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
Genetic heterogeneity in inherited spastic paraplegia associated with epilepsy
β Scribed by Cristiana Lo Nigro; Roberto Cusano; Gian Luigi Gigli; Paola Forabosco; Mariarosaria Valente; Roberto Ravazzolo; Marina Diomedi; Marco Seri
- Publisher
- John Wiley and Sons
- Year
- 2003
- Tongue
- English
- Weight
- 93 KB
- Volume
- 117A
- Category
- Article
- ISSN
- 1552-4825
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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
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