Journal of the neurological sciences
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Review Case Reports
Exon 8-17 deletions of SPAST in a Chinese family with hereditary spastic paraplegia: a case report and literature review.
Hereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous neurodegenerative disorders. SPG4 is the most common autosomal dominant form of HSP subtypes and is caused by mutations of the SPAST gene. ⋯ The patients with deletions of exons in the SPAST gene showed pure HSP, and the age at onset showed interfamily and intrafamily variations. This study suggests that exon deletion should be examined routinely in patients who are clinically diagnosed with HSP.