A new hereditary form of ectopic atrial tachycardia with autosomal dominant inheritance
โ Scribed by Nikolaos Dagres; Achim Gutersohn; Heinrich Wieneke; Stefan Sack; Raimund Erbel
- Book ID
- 117352387
- Publisher
- Elsevier Science
- Year
- 2004
- Tongue
- English
- Weight
- 115 KB
- Volume
- 93
- Category
- Article
- ISSN
- 0167-5273
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๐ SIMILAR VOLUMES
## 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