Screening of hereditary spastic paraplegia patients for alterations at NIPA1 mutational hotspots
✍ Scribed by Christian Beetz; Rebecca Schüle; Stephan Klebe; Sven Klimpe; Thomas Klopstock; Arnaud Lacour; Susanne Otto; Anne-Dorte Sperfeld; Bart van de Warrenburg; Ludger Schöls; Thomas Deufel
- Book ID
- 119302583
- Publisher
- Elsevier Science
- Year
- 2008
- Tongue
- English
- Weight
- 332 KB
- Volume
- 268
- Category
- Article
- ISSN
- 0022-510X
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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
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