A study of posterior column function in familial spastic paraplegia.
โ Scribed by Dimitrijevic, M R; Lenman, J A; Prevec, T; Wheatly, K
- Book ID
- 121787671
- Publisher
- BMJ Publishing Group
- Year
- 1982
- Tongue
- English
- Weight
- 625 KB
- Volume
- 45
- Category
- Article
- ISSN
- 0022-3050
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๐ SIMILAR VOLUMES
Familial spastic paraplegia (FSP), characterized by progressive spasticity of the lower extremities, is in its "pure" form generally of autosomal dominant inheritance pattern. Hazan et al. "at Genet 5:163-167, 19931 reported tight linkage of a large FSP family to the highly polymorphic microsatellit
## Abstract We describe a Brazilian family in which inheritance of a G106R mutation in the __SPG6__ gene (also know as __NIPA1__) resulted in an autosomal dominant form of hereditary spastic paraplegia (ADHSP). Clinical investigations indicated that this family has a pure form of spastic paraplegia