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Distinct novel mutations affecting the same base in the <i>NIPA1</i> gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families

10 Jan 2005

Abstract excerpt

Hereditary spastic paraplegia (HSP) is a neurodegenerative disease characterized by lower-limb spasticity, hyperreflexia, progressive spastic gait abnormalities, and an extensor-plantar response. It is genetically very heterogeneous, with 28 Human Genome Organisation (HUGO)-approved IDs in the database (last search: August 8, 2004). Following the identification of the SPG6 gene, NIPA1, we have identified two...

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PMID: 15643603
DOI: 10.1002/humu.20126

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