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0217 Novel mutation in the gene SPG3A in hereditary spastic paraplegia

Book ID: 119466766
Publisher: Elsevier Science
Year: 2005
Tongue: English
Weight: 129 KB
Volume: 238
Category: Article
ISSN: 0022-510X
DOI: 10.1016/s0022-510x(05)80589-1

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Hereditary spastic paraplegia (HSP) is a heterogeneous condition characterised in its pure form by progressive lower limb spasticity. Mutations in SPG4 (encoding spastin) may be responsible for up to 40% of autosomal dominant (AD) cases. A cohort of 41 mostly pure HSP patients from Britain and Austr