A dutch family with autosomal dominant pure spastic paraparesis (strümpell-lorrain)
✍ Scribed by Scheltens, Ph.; Bruyn, R.P.M.; Menko, F.H.
- Book ID
- 123332816
- Publisher
- Elsevier Science
- Year
- 1990
- Tongue
- English
- Weight
- 67 KB
- Volume
- 92
- Category
- Article
- ISSN
- 0303-8467
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Three dominantly inherited "pure" form of familial spastic paraplegia (FSP) genes have been genetically mapped to regions of chromosomes, yet no specific genes or mutations have been identified (FSPI ; chromosome 14q, FSP2; chromosome 2p and FSP3; chromosome 15q). We studied a "pure" form of autosom
We have reinvestigated a large kindred identified over 25 years ago segregating for a form of pure autosomal dominant hereditary spastic paraplegia (HSP). We have examined additional relatives in order to refine the clinical and genetic characteristics of this disorder, and performed an analysis to
The autosomal dominant hereditary spastic paraplegias (AD-HSP) are a heterogeneous group of degenerative disorders of the central motor system, characterized by progressive spasticity of the lower limbs. Five loci for pure AD-HSP have been identified to date: SPG3 at 14q, SPG4 at 2p, SPG6 at 15q, SP