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Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex

19 Oct 2018

Abstract excerpt

Hereditary spastic paraplegias (HSPs) are rare neurological disorders caused by progressive distal degeneration of the corticospinal tracts. Among the 79 loci and 65 spastic paraplegia genes (SPGs) involved in HSPs, mutations in SPAST, which encodes spastin, responsible for SPG4, are the most frequent cause of both familial and sporadic HSP. SPG4 is characterized by a clinically pure phenotype associated with...

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Hereditary Neurological Disorders
Neurogenetic and Muscular Disorders Research
Neurological diseases and metabolism

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 30476002
DOI: 10.1093/brain/awy285

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