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Article

Spectrum of SPG4 Mutations in a Large Collection of North American Families With Hereditary Spastic Paraplegia

1 Feb 2002

Abstract excerpt

BACKGROUND: 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. OBJECTIVE: To investigate a large collection of predominantly North American...

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PMID: 11843700
DOI: 10.1001/archneur.59.2.281

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