<p>The study involves a single consanguineous Palestinian family with Hereditary Spastic Paraparesis (HSP). The affected individuals suffer from spasticity of the lower limbs and abnormal gait. Using exome sequencing and homozygosity mapping, our analysis implicated the causative mutation in the motor domain of KIF1A, a gene that functions in anterograde axonal transportation.</p>

KIF1A Hereditary Spastic Paraparesis

Spastic Paraplegia, Hereditary study with SNP Genotypes (Array), CLONEEND + 1 more data on dbGaP (4 participants)

KIF1A Hereditary Spastic Paraparesis

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