Hereditary spastic paraplegia (HSP) describes a heterogeneous group of inherited neurodegenerative disorders in which the cardinal pathological feature is upper motor neurone degeneration leading to progressive spasticity and weakness of the lower limbs. Using samples from a large Omani family we re
A clinical, genetic and candidate gene study of Silver syndrome, a complicated form of hereditary spastic paraplegia
β Scribed by Thomas T. Warner; Heema Patel; Christos Proukakis; Johanna A. Reed; Laura McKie; Adrian Wills; Michael A. Patton; Andrew H. Crosby
- Book ID
- 106092452
- Publisher
- Springer
- Year
- 2004
- Tongue
- English
- Weight
- 277 KB
- Volume
- 251
- Category
- Article
- ISSN
- 0340-5354
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
## 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
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