Novel SPG3A and SPG4 mutations in dominant spastic paraplegia families
✍ Scribed by J. L. Loureiro; L. Miller-Fleming; C. Thieleke-Matos; P. Magalhães; V. T. Cruz; P. Coutinho; J. Sequeiros; I. Silveira
- Book ID
- 109338841
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 227 KB
- Volume
- 119
- Category
- Article
- ISSN
- 0001-6314
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📜 SIMILAR VOLUMES
We set up a new denaturing high-performance liquid chromatography (DHPLC)-based protocol to screen patients with autosomal dominant hereditary spastic paraplegia (AD-HSP) for mutations in SPG4. Six patients had a complicated form and 49 a pure HSP phenotype. We also analyzed 19 unrelated patients pr
## 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 characterised by progressive spasticity and hyperreflexia of the lower limbs. Autosomal dominant hereditary spastic paraplegia linked to the SPG3A locus on chromosome 14q11-2