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
MRI of autosomal dominant pure spastic paraplegia
β Scribed by K. Krabbe; J. E. Nielsen; E. Fallentin; K. Fenger; M. Herning
- Book ID
- 105930282
- Publisher
- Springer
- Year
- 1997
- Tongue
- English
- Weight
- 224 KB
- Volume
- 39
- Category
- Article
- ISSN
- 0028-3940
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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
Hereditary spastic paraplegia is a clinically and genetically heterogeneous disorder characterized by progressive spasticity of the lower limbs. Seven loci for autosomal dominant pure hereditary spastic paraplegia (ADPHSP) have already been mapped on chromosomes 14q, 2p, 15q, 8p, 12q, 19q, and 2q. W