Exome sequencing and disease analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis

Study ID Alternative Stable ID Type
phs000359 Case Set

Study Description

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.

Archive Link Archive Accession
dbGaP phs000359

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