Title: Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia. | Journal: Archives of neurology. 2002 Feb;59(2):281-6 | Authors: Meijer IA, Hand CK, Cossette P, Figlewicz DA, Rouleau GA. | Abstract: Hereditary spastic paraplegia (HSP) is a neurodegenerative disease characterized by progressive spasticity and weakness of the lower limbs. The most common form of HSP is caused by mutations in the SPG4 gene, which codes for spastin, an adenosine triphosphatase with various cellular activities (AAA) protein family member. | See full PubMed entry: http://www.ncbi.nlm.nih.gov/pubmed/11843700 |
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