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A novel mutation in the spastin gene in a family with spastic paraplegia

✍ Scribed by Mitsuya Morita; Mac Ho; Betsy A. Hosler; Diane McKenna-Yasek; Robert H. Brown Jr.


Book ID
117472711
Publisher
Elsevier Science
Year
2002
Tongue
English
Weight
166 KB
Volume
325
Category
Article
ISSN
0304-3940

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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