TDP-43 pathology in a case of hereditary spastic paraplegia with aNIPA1/SPG6 mutation
โ Scribed by Maria Martinez-Lage, Laura Molina-Porcel, Dana Falcone, Leo McCluskey, Virginia M.-Y. Lee, Vivianna M. Van Deerlin, John Q. Trojanowski
- Book ID
- 113039466
- Publisher
- Springer-Verlag
- Year
- 2012
- Tongue
- English
- Weight
- 597 KB
- Volume
- 124
- Category
- Article
- ISSN
- 0001-6322
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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__.
Mutations in the SPG7 gene encoding a mitochondrial protein termed paraplegin, are responsible for a recessive form of hereditary spastic paraparesis. Only few studies have so far been performed in large groups of hereditary spastic paraplegia (HSP) patients to determine the frequency of SPG7 mutati