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Spastin gene mutations in Bulgarian patients with hereditary spastic paraplegia

✍ Scribed by N Ivanova; A Löfgren; I Tournev; R Rousev; A Andreeva; A Jordanova; V Georgieva; T Deconinck; V Timmerman; I Kremensky; P De Jonghe; V Mitev

Book ID: 110888279
Publisher: John Wiley and Sons
Year: 2006
Tongue: English
Weight: 163 KB
Volume: 70
Category: Article
ISSN: 0009-9163
DOI: 10.1111/j.1399-0004.2006.00705.x

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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