𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Extensive genetic heterogeneity in the “pure” form of autosomal dominant familial spastic paraplegia (Strümpell's disease)

✍ Scribed by Hisashi Kobayashi; Carlos A. Garcia; Puei-Nam Tay; Eric P. Hoffman

Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
312 KB
Volume
19
Category
Article
ISSN
0148-639X

No coin nor oath required. For personal study only.

✦ Synopsis

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 autosomal dominant FSP family from North America of Italian descent for linkage to three dominant FSP loci. We excluded all three known loci with markers (D14S288, D14S269, D14S281, D2S352, D2S367, D15S210, D15S122, and D15S156) in our "pure" dominant FSP family. Our result suggests that dominant FSP is very genetically heterogeneous, and the existence of at least a fourth locus (FSP4) for the pure form of autosomal dominant FSP (Strumpell's disease).

📜 SIMILAR VOLUMES

Confirmation of locus heterogeneity in t
Confirmation of locus heterogeneity in the pure form of familial spastic paraplegia
✍ Speer, Marcy C. ;Kingston, Helen M. ;Boustany, Rose-Mary N. ;Gaskell, Peter C. ; 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 482 KB 👁 1 views

Familial spastic paraplegia (FSP), characterized by progressive spasticity of the lower extremities, is in its "pure" form generally of autosomal dominant inheritance pattern. Hazan et al. "at Genet 5:163-167, 19931 reported tight linkage of a large FSP family to the highly polymorphic microsatellit