## Communicated by Mireille Claustres Hereditary spastic paraplegias (HSP) constitute a heterogeneous group of neurodegenerative disorders characterized by slowly progressive spasticity of the lower extremities. Only a few different mutations in the SPG10 gene, KIF5A, have been described in pure d
High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia
β Scribed by Beetz, C.; Nygren, A.O.H.; Schickel, J.; Auer-Grumbach, M.; Burk, K.; Heide, G.; Kassubek, J.; Klimpe, S.; Klopstock, T.; Kreuz, F.; Otto, S.; Schule, R.; Schols, L.; Sperfeld, A. -D.; Witte, O. W.; Deufel, T.
- Book ID
- 119943350
- Publisher
- Lippincott Williams and Wilkins
- Year
- 2006
- Tongue
- English
- Weight
- 515 KB
- Volume
- 67
- Category
- Article
- ISSN
- 0028-3878
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Hereditary spastic paraplegia (HSP) due to mutations in the spastin gene (SPG4) located to 2p22-p21 is the most common form of autosomal dominant (AD) HSP. We performed PCR-based direct sequencing of SPG4, followed by a linkage analysis and subsequent Southern blot analysis in large Japanese kindred
## Abstract We describe a Japanese family in which inheritance of a novel mutation p.A100T in __SPG6__ resulted in an autosomal dominant form of hereditary spastic paraplegia (ADHSP). Clinical investigation showed a pure form of HSP. Our study demonstrates further allelic heterogeneity of __SPG6__.
Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs. Autosomal dominant hereditary spastic paraplegia 4 linked to chromosome 2p (SPG4) is the most co
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