CIDR: Genome Wide Association Study in Familial Parkinson Disease (PD)

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Ancestry (1)

  • CLUSTERS_AS_CAUCASIAN - Individuals were within the bounds of the main cluster derived from the first two components of the multidimensional scaling algorithm in plink utilizing all case-control samples as well as CEU, YRI and CHB_JPT HapMap controls (CHB_JPT data was downloaded from Illumina) (phv00065479.v1.p1)

Demographics (7)

Disease Events (52)

  • AFFECTION_STATUS - Affection status (phv00054649.v2.p1)
  • ENCEPHALITIS - History of encephalitis (phv00045191.v1.p1)
  • FAMILY_HISTORY - Family history of disease (one or more first degree relatives with Parkinson disease) (phv00045174.v1.p1)
  • Family_History_Amyotrophic_lat - The presence or absence of amyotrophic lateral sclerosis in the subject blood relatives as documented based on clinician interview (see phs000004: NINDS Repository Neurologically Normal Control Collection): present= The individual themselves have a history or diagnosis of amyotrophic lateral sclerosis; absent=The individual themselves have no history or diagnosis of amyotrophic lateral sclerosis (phv00045247.v1.p1)
  • Family_History_Ataxia - The presence or absence of ataxia in the subject blood relatives as documented based on clinician interview (see phs000004: NINDS Repository Neurologically Normal Control Collection) (phv00045248.v1.p1)
  • Family_History_Autism - The presence or absence of autism in the subject blood relatives as documented based on clinician interview (see phs000004: NINDS Repository Neurologically Normal Control Collection) (phv00045249.v1.p1)
  • Family_History_Bipolar - The presence or absence of bipolar disorder in the subject blood relatives as documented based on clinician interview (see phs000004: NINDS Repository Neurologically Normal Control Collection) (phv00045250.v1.p1)
  • Family_History_Brain_aneurysm - The presence or absence of brain aneurysm in the subject blood relatives as documented based on clinician interview (see phs000004: NINDS Repository Neurologically Normal Control Collection) (phv00045251.v1.p1)
  • Family_History_Cancer - The presence or absence of cancer in the subject blood relatives, to be delineated, as documented based on clinician interview of the subject (see phs000004: NINDS Repository Neurologically Normal Control Collection) (phv00045252.v1.p1)
  • Family_History_Dementia - The presence or absence of dementia in the subject blood relatives, to be delineated, as documented based on clinician interview of the subject (see phs000004: NINDS Repository Neurologically Normal Control Collection) (phv00045253.v1.p1)
  • Family_History_Depression - The presence or absence of depression in the subject blood relatives, to be delineated, as documented based on clinician interview of the subject (see phs000004: NINDS Repository Neurologically Normal Control Collection) (phv00045254.v1.p1)
  • Family_History_Diabetes - The presence or absence of diabetes in the subject blood relatives, to be delineated, as documented based on clinician interview of the subject (see phs000004: NINDS Repository Neurologically Normal Control Collection) (phv00045255.v1.p1)
  • Family_History_Dystonia - The presence or absence of dystonia in the subject blood relatives, to be delineated, as documented based on clinician interview of the subject (see phs000004: NINDS Repository Neurologically Normal Control Collection) (phv00045256.v1.p1)
  • Family_History_Epilepsy - The presence or absence of epilepsy in the subject blood relatives, to be delineated, as documented based on clinician interview of the subject (see phs000004: NINDS Repository Neurologically Normal Control Collection) (phv00045257.v1.p1)
  • Family_History_Heart_disease - The presence or absence of heart disease in the subject blood relatives, to be delineated, as documented based on clinician interview of the subject (see phs000004: NINDS Repository Neurologically Normal Control Collection) (phv00045258.v1.p1)
  • Family_History_Hypertension - The presence or absence of hypertension in the subject blood relatives, to be delineated, as documented based on clinician interview of the subject (see phs000004: NINDS Repository Neurologically Normal Control Collection) (phv00045259.v1.p1)
  • Family_History_memory_loss - The presence or absence of memory loss in the subject blood relatives, to be delineated, as documented based on clinician interview of the subject (see phs000004: NINDS Repository Neurologically Normal Control Collection) (phv00045260.v1.p1)
  • Family_History_Migraine - The presence or absence of migraine in the subject blood relatives, to be delineated, as documented based on clinician interview of the subject (see phs000004: NINDS Repository Neurologically Normal Control Collection) (phv00045261.v1.p1)
  • Family_History_Multiple_scleros - The presence or absence of multiple sclerosis in the subject blood relatives, to be delineated, as documented based on clinician interview of the subject (see phs000004: NINDS Repository Neurologically Normal Control Collection) (phv00045262.v1.p1)
  • Family_History_Muscle_disease - The presence or absence of muscle disease of any type in the subject blood relatives, to be delineated, as documented based on clinician interview of the subject (see phs000004: NINDS Repository Neurologically Normal Control Collection) (phv00045263.v1.p1)
  • Family_History_Obsessive_Comp - The presence or absence of obsessive compulsive disorder in the subject's blood relatives as determined by clinician's interview (see phs000004: NINDS Repository Neurologically Normal Control Collection) (phv00045264.v1.p1)
  • Family_History_Parkinson_s - The presence or absence of Parkinson disease in the subject blood relatives, to be delineated, as documented based on clinician interview of the subject (see phs000004: NINDS Repository Neurologically Normal Control Collection) (phv00045266.v1.p1)
  • Family_History_Schizophrenia - The presence or absence of schizophrenia in the subject blood relatives, to be delineated, as documented based on clinician interview of the subject (see phs000004: NINDS Repository Neurologically Normal Control Collection) (phv00045267.v1.p1)
  • Family_History_Stroke - The presence or absence of cerebrovascular disease in the subject blood relatives, to be delineated, as documented based on clinician interview of the subject (see phs000004: NINDS Repository Neurologically Normal Control Collection) (phv00045268.v1.p1)
  • Family_History_Suicide_Attempt - The presence or absence of suicide attempt in the subject's blood relatives as documented based on clinician interview of the subject (see phs000004: NINDS Repository Neurologically Normal Control Collection) (phv00045269.v1.p1)
  • Family_History_Tourettes - The presence or absence of Tourette's syndrome in the subject's blood relatives as determined by clinician's interview (see phs000004: NINDS Repository Neurologically Normal Control Collection) (phv00045270.v1.p1)
  • HEAD_INJURY - History of traumatic brain injury prior to onset of symptoms (phv00045183.v1.p1)
  • MED_HISTORY_AD - Clinical features/course suggesting Alzheimer disease or other dementing illness distinct from Parkinson disease (phv00045193.v1.p1)
  • Medical_History_Amyotrophic_lat - The presence or absence of amyotrophic lateral sclerosis in the subject themselves as documented based on clinician interview (see phs000004: NINDS Repository Neurologically Normal Control Collection) (phv00045272.v1.p1)
  • Medical_History_Ataxia - The presence or absence of ataxia in the subject themselves as documented based on clinician interview (see phs000004: NINDS Repository Neurologically Normal Control Collection) (phv00045273.v1.p1)
  • Medical_History_Autism - The presence or absence of autism in the subject themselves as documented based on clinician interview (see phs000004: NINDS Repository Neurologically Normal Control Collection) (phv00045274.v1.p1)
  • Medical_History_Bipolar - The presence or absence of bipolar disorder in the subjects themselves as documented based on clinician interview (see phs000004: NINDS Repository Neurologically Normal Control Collection) (phv00045275.v1.p1)
  • Medical_History_Brain_aneurysm - The presence or absence of brain aneurysm in the subjects themselves as documented based on clinician interview (see phs000004: NINDS Repository Neurologically Normal Control Collection) (phv00045276.v1.p1)
  • Medical_History_Cancer - The presence or absence of cancer in the subjects themselves as documented based on clinician interview (see phs000004: NINDS Repository Neurologically Normal Control Collection) (phv00045277.v1.p1)
  • Medical_History_Dementia - The presence or absence of dementia in the subjects themselves as documented based on clinician interview (see phs000004: NINDS Repository Neurologically Normal Control Collection) (phv00045278.v1.p1)
  • Medical_History_Depression - The presence or absence of depression in the subjects themselves as documented based on clinician interview (see phs000004: NINDS Repository Neurologically Normal Control Collection) (phv00045279.v1.p1)
  • Medical_History_Diabetes - The presence or absence of diabetes in the subjects themselves as documented based on clinician interview (see phs000004: NINDS Repository Neurologically Normal Control Collection) (phv00045280.v1.p1)
  • Medical_History_Dystonia - The presence or absence of dystonia in the subjects themselves as documented based on clinician interview (see phs000004: NINDS Repository Neurologically Normal Control Collection) (phv00045281.v1.p1)
  • Medical_History_Epilepsy - The presence or absence of epilepsy in the subjects themselves as documented based on clinician interview (see phs000004: NINDS Repository Neurologically Normal Control Collection) (phv00045282.v1.p1)
  • Medical_History_Heart_disease - The presence or absence of heart disease in the subjects themselves as documented based on clinician interview (see phs000004: NINDS Repository Neurologically Normal Control Collection) (phv00045283.v1.p1)
  • Medical_History_Hypertension - The presence or absence of hypertension in the subjects themselves as documented based on clinician interview (see phs000004: NINDS Repository Neurologically Normal Control Collection) (phv00045284.v1.p1)
  • Medical_History_memory_loss - The presence or absence of memory loss in the subjects themselves as documented based on clinician interview (see phs000004: NINDS Repository Neurologically Normal Control Collection) (phv00045285.v1.p1)
  • Medical_History_Migraine - The presence or absence of migraine in the subjects themselves as documented based on clinician interview (see phs000004: NINDS Repository Neurologically Normal Control Collection) (phv00045286.v1.p1)
  • Medical_History_Multiple_scleros - The presence or absence of multiple sclerosis in the subjects themselves as documented based on clinician interview (see phs000004: NINDS Repository Neurologically Normal Control Collection) (phv00045287.v1.p1)
  • Medical_History_Muscle_disease - The presence or absence of muscle disease in the subjects themselves as determined by clinical interview; if present, the clinical interview will describe the type of muscle disease and thus may capture disorders that result in weakness, but are not considered to be a disease of the muscle (see phs000004: NINDS Repository Neurologically Normal Control Collection) (phv00045288.v1.p1)
  • Medical_History_Obsessive_Comp - The presence or absence of obsessive compulsive disorder in the subjects themselves as determined by clinician's interview (see phs000004: NINDS Repository Neurologically Normal Control Collection) (phv00045289.v1.p1)
  • Medical_History_Parkinson_s - The presence or absence of Parkinson disease in the subjects themselves as documented based on clinician interview (see phs000004: NINDS Repository Neurologically Normal Control Collection) (phv00045291.v1.p1)
  • Medical_History_Schizophrenia - The presence or absence of schizophrenia in the subjects themselves as documented based on clinician interview (see phs000004: NINDS Repository Neurologically Normal Control Collection) (phv00045292.v1.p1)
  • Medical_History_Stroke - The presence or absence of cerebrovascular disease in the subjects themselves as documented based on clinician interview (see phs000004: NINDS Repository Neurologically Normal Control Collection) (phv00045293.v1.p1)
  • Medical_History_Suicide_Attempt - The subject themselves endorses a past suicide attempt as documented based on clinician interview (see phs000004: NINDS Repository Neurologically Normal Control Collection) (phv00045294.v1.p1)
  • Medical_History_Tourettes - The presence or absence of Tourette's syndrome in the subjects themselves as determined by clinician's interview (see phs000004: NINDS Repository Neurologically Normal Control Collection) (phv00045295.v1.p1)
  • STROKE_OR_STEPWISE - History of strokes with stepwise progression of parkinsonian features (phv00045187.v1.p1)

Geography (1)

  • Country_Origin - Subject's country of birth (see phs000004: NINDS Repository Neurologically Normal Control Collection) (phv00045244.v1.p1)

Mental Health (2)

  • MMSE - Mini-Mental Status Exam total score (phv00045194.v1.p1)
  • MMSE_score - Mini Mental Status Score (the subject has a score on the Folstein Mini mental status exam as specified) (see phs000004: NINDS Repository Neurologically Normal Control Collection) (phv00045297.v1.p1)

Race and Ethnicity (4)

Substance Use (5)

  • SMOKING_1YR - Smoked? 1 cigarette/day for 1 year? (phv00045188.v1.p1)
  • SMOKING_5PK - Smoked less than 5 packs of cigarettes in their lifetime (phv00045189.v1.p1)
  • SMOKING_CURRENT - Smokes currently (phv00045190.v1.p1)
  • Smoking_history - A record of an individual's background in regard to smoking tobacco. This would include such factors as start date, end date (if applicable), number of cigarette smoked, attempts to quit, and others. (Current indicates a current smoker; former indicates the subject smoked in the past but does not smoke now; never indicates that the individual has never smoked). (See phs000004: NINDS Repository Neurologically Normal Control Collection) (phv00045299.v1.p1)
  • Years_smoking - How many years did the person smoke, if the person is a current or former smoker? (Number of years smoked total). (See phs000004: NINDS Repository Neurologically Normal Control Collection) (phv00045300.v1.p1)

Other (93)

  • ANALYTE_TYPE - Analyte type (phv00266093.v1.p1)
  • ASYMMETRIC_ONSET - Asymmetric onset of disease symptoms (phv00045176.v1.p1)
  • B1 - UPRDS (Unified Parkinson Disease Rating Scale) II Question 1 - Speech: 0 = Normal; 1 = Mildly affected, no difficulty being understood; 2 = Moderately affected, sometimes asked to repeat statements; 3 = Severely affected, frequently asked to repeat statements; 4 = Unintelligible most of the time; U = Unavailable (phv00045196.v1.p1)
  • B10 - UPRDS (Unified Parkinson Disease Rating Scale) II Question 10 - Freezing when walking: 0 = None; 1 = Rare freezing when walking, may have start hesitation; 2 = Occasional freezing when walking; 3 = Frequent freezing, occasionally falls from freezing; 4 = Frequent falls because of freezing; U = Unavailable (phv00045205.v1.p1)
  • B11 - UPRDS (Unified Parkinson Disease Rating Scale) II Question 11 - Walking: 0 = Normal; 1 = Mild difficulty, may not swing arms or may tend to drag leg; 2 = Moderate difficulty, but requires little or no assistance; 3 = Severe disturbance of walking, requires assistance; 4 = Cannot walk at all, even with assistance; U = Unavailable (phv00045206.v1.p1)
  • B12 - UPRDS (Unified Parkinson Disease Rating Scale) II Question 12 - Tremor: 0 = Absent; 1 = Slight and infrequently present; 2 = Moderate, bothersome to patient; 3 = Severe, interferes with many activities; 4 = Marked, interferes with most activities; U = Unavailable (phv00045207.v1.p1)
  • B13 - UPRDS (Unified Parkinson Disease Rating Scale) II Question 13 - Sensory complaints related to parkinsonism: 0 = None; 1 = Occasionally has numbness, tingling, or mild aching; 2 = Frequently has numbness, tingling, or aching, not distressing; 3 = Frequent painful sensations; 4 = Excruciating pain; U = Unavailable (phv00045208.v1.p1)
  • B14 - UPRDS (Unified Parkinson Disease Rating Scale) III Question 14 - Speech: 0 = Normal; 0.5=Intermediate between normal and slight loss of expression, diction, and/or volume; 1 = Slight loss of expression, diction, and/or volume; 1.5=Intermediate between slight loss of expression, diction, and/or volume and monotone, slurred but understandable, moderately impaired; 2 = Monotone, slurred but understandable, moderately impaired; 2.5=Intermediate between monotone, slurred but understandable, moderately impaired and marked impairment, difficult to understand; 3 = Marked impairment, difficult to understand; 4 = Unintelligible; U = Unavailable (phv00045209.v1.p1)
  • B15 - UPRDS (Unified Parkinson Disease Rating Scale) III Question 15 - Facial expression: 0 = Normal; 0.5=Intermediate between normal and minimal hypomimia, could be normal poker face ; 1 = Minimal hypomimia, could be normal poker face ; 1.5=Intermediate between minimal hypomimia, could be normal poker face and slight but definitely abnormal diminution of facial expression ; 2 = Slight but definitely abnormal diminution of facial expression ; 2.5=Intermediate between slight but definitely abnormal diminution of facial expression and moderate hypomimia, lips parted some of the time ; 3 = Moderate hypomimia, lips parted some of the time ; 3.5=Intermediate between moderate hypomimia, lips parted some of the time and masked or fixed facies, with severe or complete loss of facial expression, lips parted 1/4 inch or more ; 4 = Masked or fixed facies, with severe or complete loss of facial expression, lips parted 1/4 inch or more ; U = Unavailable (phv00045210.v1.p1)
  • B16A - UPRDS (Unified Parkinson Disease Rating Scale) III Question 16A - Tremor at rest: face, lips+chin: 0 = Absent; 0.5=Intermediate between absent and slight and infrequently present; 1 = Slight and infrequently present; 1.5=Intermediate between slight and infrequently present and mild in amplitude and persistent, or moderate in amplitude but only intermittently present; 2 = Mild in amplitude and persistent, or moderate in amplitude but only intermittently present; 2.5=Intermediate between mild in amplitude and persistent, or moderate in amplitude but only intermittently present and moderate in amplitude and present most of the time; 3 = Moderate in amplitude and present most of the time; 4 = Marked in amplitude and present most of the time; U = Unavailable (phv00045211.v1.p1)
  • B16B - UPRDS (Unified Parkinson Disease Rating Scale) III Question 16B - Tremor at rest: right hand: 0 = Absent; 0.5=Intermediate between absent and slight and infrequently present; 1 = Slight and infrequently present; 1.5=Intermediate between slight and infrequently present and mild in amplitude and persistent, or moderate in amplitude but only intermittently present; 2 = Mild in amplitude and persistent, or moderate in amplitude but only intermittently present; 2.5=Intermediate between mild in amplitude and persistent, or moderate in amplitude but only intermittently present and moderate in amplitude and present most of the time; 3 = Moderate in amplitude and present most of the time; 3.5=Intermediate between moderate in amplitude and present most of the time and marked in amplitude and present most of the time; 4 = Marked in amplitude and present most of the time; U = Unavailable (phv00045212.v1.p1)
  • B16C - UPRDS (Unified Parkinson Disease Rating Scale) III Question 16C - Tremor at rest: left hand: 0 = Absent; 0.5=Intermediate between absent and slight and infrequently present; 1 = Slight and infrequently present; 1.5=Intermediate between slight and infrequently present and mild in amplitude and persistent, or moderate in amplitude but only intermittently present; 2 = Mild in amplitude and persistent, or moderate in amplitude but only intermittently present; 2.5=Intermediate between mild in amplitude and persistent, or moderate in amplitude but only intermittently present and moderate in amplitude and present most of the time; 3 = Moderate in amplitude and present most of the time; 4 = Marked in amplitude and present most of the time; U = Unavailable (phv00045213.v1.p1)
  • B16D - UPRDS (Unified Parkinson Disease Rating Scale) III Question 16D - Tremor at rest: right foot: 0 = Absent; 0.5=Intermediate between absent and slight and infrequently present; 1 = Slight and infrequently present; 1.5=Intermediate between slight and infrequently present and mild in amplitude and persistent, or moderate in amplitude but only intermittently present; 2 = Mild in amplitude and persistent, or moderate in amplitude but only intermittently present; 2.5=Intermediate between mild in amplitude and persistent, or moderate in amplitude but only intermittently present; 3 = Moderate in amplitude and present most of the time; 4 = Marked in amplitude and present most of the time; U = Unavailable (phv00045214.v1.p1)
  • B16E - UPRDS (Unified Parkinson Disease Rating Scale) III Question 16E - Tremor at rest. left foot: 0 = Absent; 0.5=Intermediate between absent and slight and infrequently present; 1 = Slight and infrequently present; 1.5=Intermediate between slight and infrequently present and mild in amplitude and persistent, or moderate in amplitude but only intermittently present; 2 = Mild in amplitude and persistent, or moderate in amplitude but only intermittently present; 2.5=Intermediate between mild in amplitude and persistent, or moderate in amplitude but only intermittently present and moderate in amplitude and present most of the time ; 3 = Moderate in amplitude and present most of the time; 4 = Marked in amplitude and present most of the time; U = Unavailable (phv00045215.v1.p1)
  • B17A - UPRDS (Unified Parkinson Disease Rating Scale) III Question 17A - Action or postural tremor of hands. Right hand: 0 = Absent; 0.5=Intermediate between absent and slight, present with action; 1 = Slight, present with action; 1.5=Intermediate between slight, present with action and moderate in amplitude, present with action; 2 = Moderate in amplitude, present with action; 2.5=Intermediate between moderate in amplitude, present with action and moderate in amplitude, present with posture-holding as well as with action; 3 = Moderate in amplitude, present with posture-holding as well as with action; 4 = Marked in amplitude, interferes with feeding; U = Unavailable (phv00045216.v1.p1)
  • B17B - UPRDS (Unified Parkinson Disease Rating Scale) III Question 17B - Action or postural tremor of hands. Left hand: 0 = Absent; 0.5=Intermediate between absent and slight, present with action; 1 = Slight, present with action; 1.5=Intermediate between slight, present with action and moderate in amplitude, present with action; 2 = Moderate in amplitude, present with action; 2.5=Intermediate between moderate in amplitude, present with action and moderate in amplitude, present with posture-holding as well as with action; 3 = Moderate in amplitude, present with posture-holding as well as with action; 4 = Marked in amplitude, interferes with feeding; U = Unavailable (phv00045217.v1.p1)
  • B18A - UPRDS (Unified Parkinson Disease Rating Scale) III Question 18A - Rigidity (judged on passive movement of major joints with subject relaxed in sitting position, cogwheeling to be ignored). Neck: 0 = Absent; 0.5=Intermediate between absent and slight or detectable only when activated by mirror or other movements; 1 = Slight or detectable only when activated by mirror or other movements; 1.5=Intermediate between slight or detectable only when activated by mirror or other movements and mild to moderate; 2 = Mild to moderate; 2.5=Intermediate between mild to moderate and marked, but full range of motion easily achieved; 3 = Marked, but full range of motion easily achieved; 3.5=Intermediate between marked, but full range of motion easily achieved and severe, range of motion achieved with difficulty; 4 = Severe, range of motion achieved with difficulty; U = Unavailable (phv00045218.v1.p1)
  • B18B - UPRDS (Unified Parkinson Disease Rating Scale) III Question 18B - Rigidity (judged on passive movement of major joints with subject relaxed in sitting position, cogwheeling to be ignored). RUE: 0 = Absent; 0.5=Intermediate between absent and slight or detectable only when activated by mirror or other movements; 1 = Slight or detectable only when activated by mirror or other movements; 1.5=Intermediate between slight or detectable only when activated by mirror or other movements and mild to moderate; 2 = Mild to moderate;2.5=Intermediate between mild to moderate and marked, but full range of motion easily achieved; 3 = Marked, but full range of motion easily achieved; 4 = Severe, range of motion achieved with difficulty; U = Unavailable (phv00045219.v1.p1)
  • B18C - UPRDS (Unified Parkinson Disease Rating Scale) III Question 18C - Rigidity (judged on passive movement of major joints with subject relaxed in sitting position, cogwheeling to be ignored). LUE: 0 = Absent; 0.5=Intermediate between absent and slight or detectable only when activated by mirror or other movements; 1 = Slight or detectable only when activated by mirror or other movements; 1.5=Intermediate between slight or detectable only when activated by mirror or other movements and mild to moderate; 2 = Mild to moderate; 2.5=Intermediate between mild to moderate and marked, but full range of motion easily achieved; 3 = Marked, but full range of motion easily achieved; 3.5=Intermediate between marked, but full range of motion easily achieved and severe, range of motion achieved with difficulty; 4 = Severe, range of motion achieved with difficulty; U = Unavailable (phv00045220.v1.p1)
  • B18D - UPRDS (Unified Parkinson Disease Rating Scale) III Question 18D - Rigidity (judged on passive movement of major joints with subject relaxed in sitting position, cogwheeling to be ignored). RLE: 0 = Absent; 0.5=Intermediate between absent and slight or detectable only when activated by mirror or other movements; 1 = Slight or detectable only when activated by mirror or other movements;1.5=Intermediate between slight or detectable only when activated by mirror or other movements and mild to moderate; 2 = Mild to moderate; 2.5=Intermediate between mild to moderate and marked, but full range of motion easily achieved; 3 = Marked, but full range of motion easily achieved; 3.5=Intermediate between marked, but full range of motion easily achieved severe, range of motion achieved with difficulty; 4 = Severe, range of motion achieved with difficulty; U = Unavailable (phv00045221.v1.p1)
  • B18E - UPRDS (Unified Parkinson Disease Rating Scale) III Question 18E - Rigidity (judged on passive movement of major joints with subject relaxed in sitting position, cogwheeling to be ignored). LLE: 0 = Absent; 0.5=Intermediate between absent and slight or detectable only when activated by mirror or other movements; 1 = Slight or detectable only when activated by mirror or other movements; 1.5=Intermediate between slight or detectable only when activated by mirror or other movements and mild to moderate; 2 = Mild to moderate; 2.5=Intermediate between mild to moderate and marked, but full range of motion easily achieved; 3 = Marked, but full range of motion easily achieved; 3.5=Intermediate between marked, but full range of motion easily achieved and severe, range of motion achieved with difficulty; 4 = Severe, range of motion achieved with difficulty; U = Unavailable (phv00045222.v1.p1)
  • B19A - UPRDS (Unified Parkinson Disease Rating Scale) III Question 19A - Finger taps (subject taps thumb with index finger in rapid succession with widest amplitude possible, each hand separately). Right hand: 0 = Normal (less than 15/5 sec); 0.5=Intermediate between normal (less than 15/5 sec) and mild slowing and/or reduction in amplitude (11-14/5 sec); 1 = Mild slowing and/or reduction in amplitude (11-14/5 sec); 1.5=Intermediate between mild slowing and/or reduction in amplitude (11-14/5 sec) and moderately impaired, definite and early fatiguing, may have occasional arrests in movement (7-10/5 sec); 2 = Moderately impaired, definite and early fatiguing, may have occasional arrests in movement (7-10/5 sec); 2.5=Intermediate between moderately impaired, definite and early fatiguing, may have occasional arrests in movement (7-10/5 sec) and severely impaired, frequent hesitation in initiating movements or arrests in ongoing movement (3-6/5 sec); 3 = Severely impaired, frequent hesitation in initiating movements or arrests in ongoing movement (3-6/5 sec); 3.5=Intermediate between severely impaired, frequent hesitation in initiating movements or arrests in ongoing movement (3-6/5 sec) and can barely perform the task (0-2/5 sec);4 = Can barely perform the task (0-2/5 sec); U = Unavailable (phv00045223.v1.p1)
  • B19B - UPRDS (Unified Parkinson Disease Rating Scale) III Question 19B - Finger taps (subject taps thumb with index finger in rapid succession with widest amplitude possible, each hand separately). Left hand: (phv00045224.v1.p1)
  • B2 - UPRDS (Unified Parkinson Disease Rating Scale) II Question 2 - Salivation: 0 = Normal; 1 = Slight but definite excess of saliva in mouth, may have night-time drooling; 2 = Moderately excessive saliva, may have minimal drooling; 3 = Marked excess of saliva, some drooling; 4 = Marked drooling, requires constant use of tissue or handkerchief; U = Unavailable (phv00045197.v1.p1)
  • B20A - UPRDS (Unified Parkinson Disease Rating Scale) III Question 20A - Hand movements (subject opens and closes hands in rapid succession with widest amplitude possible, each hand separately). Right hand: 0 = Normal; 0.5=Intermediate between normal and mild slowing and/or reduction in amplitude; 1 = Mild slowing and/or reduction in amplitude; 1.5=Intermediate between mild slowing and/or reduction in amplitude and moderately impaired, definite and early fatiguing, may have occasional arrests in movement ; 2 = Moderately impaired, definite and early fatiguing, may have occasional arrests in movement; 2.5=Intermediate between moderately impaired, definite and early fatiguing, may have occasional arrests in movement and severely impaired, frequent hesitation in initiating movements or arrests in ongoing movement; 3 = Severely impaired, frequent hesitation in initiating movements or arrests in ongoing movement; 3.5=Intermediate between severely impaired, frequent hesitation in initiating movements or arrests in ongoing movement and can barely perform the task; 4 = Can barely perform the task; U = Unavailable (phv00045225.v1.p1)
  • B20B - UPRDS (Unified Parkinson Disease Rating Scale) III Question 20B - Hand movements (subject opens and closes hands in rapid succession with widest amplitude possible, each hand separately). Left hand: 0 = Normal; 0.5=Intermediate between normal and mild slowing and/or reduction in amplitude; 1 = Mild slowing and/or reduction in amplitude; 1.5=Intermediate between mild slowing and/or reduction in amplitude and moderately impaired, definite and early fatiguing, may have occasional arrests in movement; 2 = Moderately impaired, definite and early fatiguing, may have occasional arrests in movement; 2.5=Intermediate between moderately impaired, definite and early fatiguing, may have occasional arrests in movement and severely impaired, frequent hesitation in initiating movements or arrests in ongoing movement; 3 = Severely impaired, frequent hesitation in initiating movements or arrests in ongoing movement; 3.5=Intermediate between severely impaired, frequent hesitation in initiating movements or arrests in ongoing movement and can barely perform the task; 4 = Can barely perform the task; U = Unavailable (phv00045226.v1.p1)
  • B21A - UPRDS (Unified Parkinson Disease Rating Scale) III Question 21A - Rapid alternating movements of hands (pronation-supination movements of hands, vertically or horizontally, with as large an amplitude as possible, both hands simultaneously). Right hand: 0 = Normal; 0.5=Intermediate between normal and mild slowing and/or reduction in amplitude; 1 = Mild slowing and/or reduction in amplitude; 1.5=Intermediate between mild slowing and/or reduction in amplitude and moderately impaired, definite and early fatiguing, may have occasional arrests in movement; 2 = Moderately impaired, definite and early fatiguing, may have occasional arrests in movement; 2.5=Intermediate between moderately impaired, definite and early fatiguing, may have occasional arrests in movement and severely impaired, frequent hesitation in initiating movements or arrests in ongoing movement; 3 = Severely impaired, frequent hesitation in initiating movements or arrests in ongoing movement; 3.5=Intermediate between severely impaired, frequent hesitation in initiating movements or arrests in ongoing movement and can barely perform the task; 4 = Can barely perform the task; U = Unavailable (phv00045227.v1.p1)
  • B21B - UPRDS (Unified Parkinson Disease Rating Scale) III Question 21B - Rapid alternating movements of hands (pronation-supination movements of hands, vertically or horizontally, with as large an amplitude as possible, both hands simultaneously), left hand: 0 = Normal; 0.5=Intermediate between normal and mild slowing and/or reduction in amplitude; 1 = Mild slowing and/or reduction in amplitude; 1.5=Intermediate between mild slowing and/or reduction in amplitude and moderately impaired, definite and early fatiguing, may have occasional arrests in movement; 2 = Moderately impaired, definite and early fatiguing, may have occasional arrests in movement; 2.5=Intermediate between moderately impaired, definite and early fatiguing, may have occasional arrests in movement and severely impaired, frequent hesitation in initiating movements or arrests in ongoing movement ; 3 = Severely impaired, frequent hesitation in initiating movements or arrests in ongoing movement; 3.5=Intermediate between severely impaired, frequent hesitation in initiating movements or arrests in ongoing movement and can barely perform the task; 4 = Can barely perform the task; U = Unavailable (phv00045228.v1.p1)
  • B22A - UPRDS (Unified Parkinson Disease Rating Scale) III Question 22A - Leg agility (subject taps heel on ground in rapid succession, picking up entire leg, amplitude should be about 3 inches), right leg: 0 = Normal; 0.5=Intermediate between normal and mild slowing and/or reduction in amplitude; 1 = Mild slowing and/or reduction in amplitude; 1.5=Intermediate between mild slowing and/or reduction in amplitude and moderately impaired, definite and early fatiguing, may have occasional arrests in movement; 2 = Moderately impaired, definite and early fatiguing, may have occasional arrests in movement; 2.5=Intermediate between moderately impaired, definite and early fatiguing, may have occasional arrests in movement and severely impaired, frequent hesitation in initiating movements or arrests in ongoing movement; 3 = Severely impaired, frequent hesitation in initiating movements or arrests in ongoing movement; 3.5=Intermediate between severely impaired, frequent hesitation in initiating movements or arrests in ongoing movement and can barely perform the task; 4 = Can barely perform the task; U = Unavailable (phv00045229.v1.p1)
  • B22B - UPRDS (Unified Parkinson Disease Rating Scale) III Question 22B - Leg agility (subject taps heel on ground in rapid succession, picking up entire leg, amplitude should be about 3 inches), left leg: 0 = Normal; 0.5=Intermediate between normal and mild slowing and/or reduction in amplitude; 1 = Mild slowing and/or reduction in amplitude; 1.5=Intermediate between mild slowing and/or reduction in amplitude and moderately impaired, definite and early fatiguing, may have occasional arrests in movement; 2 = Moderately impaired, definite and early fatiguing, may have occasional arrests in movement; 2.5=Intermediate between moderately impaired, definite and early fatiguing, may have occasional arrests in movement and severely impaired, frequent hesitation in initiating movements or arrests in ongoing movement; 3 = Severely impaired, frequent hesitation in initiating movements or arrests in ongoing movement; 3.5=Intermediate between severely impaired, frequent hesitation in initiating movements or arrests in ongoing movement and can barely perform the task; 4 = Can barely perform the task; U = Unavailable (phv00045230.v1.p1)
  • B23 - UPRDS (Unified Parkinson Disease Rating Scale) III Question 23 - Arising from chair (subject attempts to arise from a straight-back wood or metal chair, with arms folded across chest): 0 = Normal; 0.5=Intermediate between normal and slow or may need more than one attempt; 1 = Slow or may need more than one attempt; 1.5=Intermediate between slow or may need more than one attempt and pushes self up from arms of seat; 2 = Pushes self up from arms of seat; 2.5=Intermediate between pushes self up from arms of seat and tends to fall back and may have to try more than one time but can get up without help; 3 = Tends to fall back and may have to try more than one time but can get up without help; 3.5=Intermediate between tends to fall back and may have to try more than one time but can get up without help and unable to arise without help; 4 = Unable to arise without help; U = Unavailable (phv00045231.v1.p1)
  • B24 - UPRDS (Unified Parkinson Disease Rating Scale) III Question 24 - Posture: 0 = Normal erect; 0.5=Intermediate between normal erect and not quite erect, slightly stooped posture, could be normal for older person; 1 = Not quite erect, slightly stooped posture, could be normal for older person; 1.5=Intermediate between not quite erect, slightly stooped posture, could be normal for older person and moderately stooped posture, definitely abnormal, can be slightly leaning to one side; 2 = Moderately stooped posture, definitely abnormal, can be slightly leaning to one side; 2.5=Intermediate between moderately stooped posture, definitely abnormal, can be slightly leaning to one side and severely stooped posture with kyphosis, can be moderately leaning to one side but can get up without help; 3 = Severely stooped posture with kyphosis, can be moderately leaning to one side but can get up without help; 3.5=Intermediate between severely stooped posture with kyphosis, can be moderately leaning to one side but can get up without help and marked flexion, with extreme abnormality of posture; 4 = Marked flexion, with extreme abnormality of posture; U = Unavailable (phv00045232.v1.p1)
  • B25 - UPRDS (Unified Parkinson Disease Rating Scale) III Question 25 - Gait: 0 = Normal; 0.5=Intermediate between normal and walks slowly, may shuffle with short steps, but no festination or propulsion; 1 = Walks slowly, may shuffle with short steps, but no festination or propulsion; 1.5=Intermediate between walks slowly, may shuffle with short steps, but no festination or propulsion and walks with difficulty but requires little or no assistance, may have some festination, short steps, or propulsion ; 2 = Walks with difficulty but requires little or no assistance, may have some festination, short steps, or propulsion; 2.5=Intermediate between walks with difficulty but requires little or no assistance, may have some festination, short steps, or propulsion and severe disturbance of gait, requiring assistance; 3 = Severe disturbance of gait, requiring assistance; 3.5=Intermediate between severe disturbance of gait, requiring assistance and cannot walk at all, even with assistance; 4 = Cannot walk at all, even with assistance; U = Unavailable (phv00045233.v1.p1)
  • B26 - UPRDS (Unified Parkinson Disease Rating Scale) III Question 26 - Postural Stability (response to sudden posterior displacement produced by pull on shoulders while subject is erect, with eyes open and feet slightly apart; subject is prepared): 0 = Normal; 0.5=Intermediate between normal and retropulsion, but recovers unaided; 1 = Retropulsion, but recovers unaided; 1.5=Intermediate between retropulsion, but recovers unaided and absence of postural response, would fall if not caught by examiner; 2 = Absence of postural response, would fall if not caught by examiner; 2.5=Intermediate between absence of postural response, would fall if not caught by examiner and very unstable, tends to lose balance spontaneously; 3 = Very unstable, tends to lose balance spontaneously; 3.5=Intermediate between very unstable, tends to lose balance spontaneously and unable to stand without assistance; 4 = Unable to stand without assistance; U = Unavailable (phv00045234.v1.p1)
  • B27 - UPRDS (Unified Parkinson Disease Rating Scale) III Question 27 - Body bradykinesia and hypokinesia (combining slowness, hesitancy, decreased arm swing, small amplitude, and poverty of movement in general): 0 = None; 0.5=Intermediate between none and minimal slowness, giving movement a deliberate character, could be normal for some persons, possibly reduced amplitude; 1 = Minimal slowness, giving movement a deliberate character, could be normal for some persons, possibly reduced amplitude; 1.5=Intermediate between minimal slowness, giving movement a deliberate character, could be normal for some persons, possibly reduced amplitude and mild degree of slowness and poverty of movement which is definitely abnormal, alternatively, some reduced amplitude; 2 = Mild degree of slowness and poverty of movement which is definitely abnormal, alternatively, some reduced amplitude; 2.5=Intermediate between mild degree of slowness and poverty of movement which is definitely abnormal, alternatively, some reduced amplitude and moderate slowness, poverty or small amplitude of movement; 3 = Moderate slowness, poverty or small amplitude of movement; 3.5=Intermediate between moderate slowness, poverty or small amplitude of movement and marked slowness, poverty or small amplitude of movement; 4 = Marked slowness, poverty or small amplitude of movement; U = Unavailable (phv00045235.v1.p1)
  • B3 - UPRDS (Unified Parkinson Disease Rating Scale) II Question 3 - Swallowing: 0 = Normal; 1 = Rare choking; 2 = Occasional choking; 3 = Requires soft food; 4 = Requires nasogastric tube or gastrostomy feeding; U = Unavailable (phv00045198.v1.p1)
  • B4 - UPRDS (Unified Parkinson Disease Rating Scale) II Question 4 - Handwriting: 0 = Normal; 1 = Slightly slow or small; 2 = Moderately slow or small, all words are legible; 3 = Severely affected, not all words are legible; 4 = The majority of words are not legible; U = Unavailable (phv00045199.v1.p1)
  • B5 - UPRDS (Unified Parkinson Disease Rating Scale) II Question 5 - Cutting food and handling utensils: 0 = Normal; 1 = Somewhat slow and clumsy, but no help needed; 2 = Can cut most foods, although clumsy and slow, some help needed; 3 = Food must be cut by someone, but can still feed slowly; 4 = Needs to be fed; U = Unavailable (phv00045200.v1.p1)
  • B6 - UPRDS (Unified Parkinson Disease Rating Scale) II Question 6 - Dressing: 0 = Normal; 1 = Somewhat slow, but no help needed; 2 = Occasional assistance needed with buttoning, getting arms in sleeves; 3 = Considerable help required, but can do some things alone; 4 = Helpless; U = Unavailable (phv00045201.v1.p1)
  • B7 - UPRDS (Unified Parkinson Disease Rating Scale) II Question 7 - Hygiene: 0 = Normal; 1 = Somewhat slow, but no help needed; 2 = Needs help to shower or bathe, very slow in hygienic care; 3 = Requires assistance for washing, brushing teeth, combing hair, going to bathroom; 4 = Needs Foley catheter or other mechanical aids; U = Unavailable (phv00045202.v1.p1)
  • B8 - UPRDS (Unified Parkinson Disease Rating Scale) II Question 8 - Turning in bed and adjusting bedclothes: 0 = Normal; 1 = Somewhat slow and clumsy, but no help needed; 2 = Can turn alone or adjust sheets, but with great difficulty; 3 = Can initiate attempt, but cannot turn or adjust sheets alone; 4 = Helpless; U = Unavailable (phv00045203.v1.p1)
  • B9 - UPRDS (Unified Parkinson Disease Rating Scale) II Question 9 - Falling (unrelated to freezing): 0 = None; 1 = Rare falling; 2 = Occasionally falls, less than once daily; 3 = Falls an average of once daily; 4 = Falls more than once daily; U = Unavailable (phv00045204.v1.p1)
  • BODY_SITE - Body site where sample was collected (phv00266092.v1.p1)
  • BRADYKINESIA - Presence of bradykinesia (phv00045177.v1.p1)
  • CEREBELLAR_SIGNS - Cerebellar signs (phv00045186.v1.p1)
  • CLINICAL_DX - Clinical diagnosis (phv00045175.v1.p1)
  • CLUSTERS_AS_CAUCASIAN - Individuals were within the bounds of the main cluster derived from the first two components of the multidimensional scaling algorithm in plink utilizing all case-control samples as well as CEU, YRI and CHB_JPT HapMap controls (CHB_JPT data was downloaded from Illumina) (phv00065472.v1.p1)
  • Comment - Comments (phv00266089.v1.p1)
  • CONSENT - Consent group as determined by DAC (phv00054646.v2.p1)
  • DNA_SOURCE - Source of DNA (phv00065474.v1.p1)
  • DNA_SOURCE - Source of DNA (phv00065481.v1.p1)
  • FAM_NO - Family number (1000-1999 from PROGENI; 2000-2999 from GenePD) (phv00045166.v1.p1)
  • FAM_NO - Family number (3000-3999 from Coriell) (see phs000004: NINDS Repository Neurologically Normal Control Collection) (phv00048458.v1.p1)
  • FAM_NO - Family ID (phv00051859.v2.p1)
  • Family_History_Other - The clinician interviewing the subject asks about any other known medical illnesses in blood relatives and writes in as comments if so (see phs000004: NINDS Repository Neurologically Normal Control Collection) (phv00045265.v1.p1)
  • FATHER - Father's subject ID (phv00051861.v2.p1)
  • GAIT - Presence of gait dysfunction (phv00045181.v1.p1)
  • Handedness - The subject has a hand preference (left, right), or uses both hands equally well (ambidextrous) (see phs000004: NINDS Repository Neurologically Normal Control Collection) (phv00045296.v1.p1)
  • Hoehn&Yahr - Hoehn and Yahr stage : 0=Asymptomatic; 1=Unilateral involvement only; 1.5=Unilateral and axial involvement; 2=Bilateral involvement without impairment of balance; 2.5=Mild bilateral involvement with recovery on retropulsion (pull) test without rater assistance; 3=Mild to moderate bilateral involvement, some postural instability but physically independent, needs assistance to recover from pull test; 3.5=Intermediate between mild to moderate bilateral involvement, some postural instability but physically independent, needs assistance to recover from pull test and severe disability, still able to walk or stand unassisted; 4=Severe disability, still able to walk or stand unassisted; 5=Wheelchair bound or bedridden unless aided; U = Unavailable (phv00045195.v1.p1)
  • IS_TUMOR - Tumor status (phv00266094.v1.p1)
  • LOW_CALL_RATE - Call rate below 96% (phv00065475.v1.p1)
  • LOW_CALL_RATE - Call rate below 96% (phv00065482.v1.p1)
  • LOW_INTENSITY_CNV - Poor data quality for copy number variant data (standard deviation for log R ratio for chromosome 1 above 0.25) (phv00065476.v1.p1)
  • LOW_INTENSITY_CNV - Poor data quality for copy number variant data (standard deviation for log R ratio for chromosome 1 above 0.25) (phv00065483.v1.p1)
  • LRRK2_STATUS - Individual is known to harbor a LRRK2 mutation (phv00045963.v1.p1)
  • MARKED_DOP_REPLACEMENT_RESPONSE - Marked response to levodopa therapy (phv00045182.v1.p1)
  • Medical_History_Other - The clinician interviewing the subject asks about any other medical illnesses and writes in as comments if so (see phs000004: NINDS Repository Neurologically Normal Control Collection) (phv00045290.v1.p1)
  • MOTHER - Mother's subject ID (phv00051862.v2.p1)
  • Neurological_exam - The subject either did (yes) or did not (no) undergo a neurological examination (see phs000004: NINDS Repository Neurologically Normal Control Collection) (phv00045298.v1.p1)
  • OCULOGYRIC_CRISIS - History of oculogyric crisis (phv00045192.v1.p1)
  • POSTURAL_INSTABILITY - Presence of postural instability (phv00045180.v1.p1)
  • ref - Coriell ID (phv00045236.v1.p1)
  • RESTING_TREMOR - Presence of resting tremor (phv00045178.v1.p1)
  • RIGIDITY - Presence of rigidity (phv00045179.v1.p1)
  • SAMPLE_ID - Sample ID (phv00266087.v1.p1)
  • SAMPLE_ID - De-identified sample ID (phv00266091.v1.p1)
  • SAMPLE_USE - Sample Use (phv00266090.v1.p1)
  • SOURCE_SUBJID - Subject ID used in the Source Repository (phv00054648.v2.p1)
  • SUBJ_SOURCE - Source repository where subjects originate (phv00054647.v2.p1)
  • SUBJECT_ID - Individual number (First 4 digits reference the Family number) (phv00045167.v2.p1)
  • SUBJECT_ID - Individual number (first digit is always a 3 and is followed by the numerical portion of the Coriell ID) (see phs000004: NINDS Repository Neurologically Normal Control Collection) (phv00048459.v2.p1)
  • SUBJECT_ID - Unique subject ID (phv00051860.v2.p1)
  • SUBJECT_ID - Subject ID (phv00054645.v2.p1)
  • SUBJECT_ID - Subject ID (phv00266088.v1.p1)
  • SUPRANUCLEAR_GAZE_PALSY - Supranuclear gaze palsy with downgaze less than 50% of normal (phv00045185.v1.p1)
  • SUSTAINED_REMISSION - Sustained remission of parkinsonian symptoms (phv00045184.v1.p1)
  • Type_of_Control - Defines the type of control (see phs000004: NINDS Repository Neurologically Normal Control Collection) (phv00045301.v1.p1)
  • USED_IN_MARKER_QC - Clean dataset used to create marker QC filter thresholds (phv00065478.v1.p1)
  • USED_IN_MARKER_QC - Clean dataset used to create marker QC filter thresholds (phv00065485.v1.p1)
  • USED_IN_PRELIM_ANALYSES - Clean dataset used to perform "pre-computes" of association analyses (phv00065477.v1.p1)
  • USED_IN_PRELIM_ANALYSES - Clean dataset used to perform "pre-computes" of association analyses (phv00065484.v1.p1)
  • XO_OR_XO_MOSAIC - XO (only one X chromosome and no Y chromosome observed) or XO mosaic -- possible Turner syndrome, probable artifact of the cell line (phv00065473.v1.p1)
  • XO_OR_XO_MOSAIC - XO (only one X chromosome and no Y chromosome observed) or XO mosaic - possible Turner syndrome, probable artifact of the cell line (phv00065480.v1.p1)