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SPG3A mutation screening in English families with early onset autosomal dominant hereditary spastic paraplegia

✍ Scribed by P.A. Wilkinson; P.E. Hart; H. Patel; T.T. Warner; A.H. Crosby

Book ID: 119466059
Publisher: Elsevier Science
Year: 2003
Tongue: English
Weight: 171 KB
Volume: 216
Category: Article
ISSN: 0022-510X
DOI: 10.1016/s0022-510x(03)00210-7

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Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterised by progressive spasticity and hyperreflexia of the lower limbs. Autosomal dominant hereditary spastic paraplegia linked to the SPG3A locus on chromosome 14q11-2