Pseudo-dominant' inheritance in Friedreich's ataxia: Clinical and genetic study of a Brazilian family
β Scribed by Germiniani, F.M. Branco; Moro, A.; Munhoz, R.; Arruda, W.O.; Raskin, S.; Martinez, A.; Teive, H.A.G.
- Book ID
- 122970350
- Publisher
- Elsevier Science
- Year
- 2013
- Tongue
- English
- Weight
- 56 KB
- Volume
- 333
- Category
- Article
- ISSN
- 0022-510X
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## Abstract We report a family with 5 affected individuals manifesting either essential tremor (ET), Parkinsonism, or both, consistent with pseudoβdominant inheritance of PARK2. Two homozygotes presented postural and kinetic tremor several years before the onset of Parkinsonism. Postural and kineti
## 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