The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype.
作者： H. Patel , P.E. Hart , T.T. Warner , R.S. Houlston , M.A. Patton
DOI: 10.1086/321267
关键词:
摘要: The hereditary spastic paraplegias (HSPs) are a complex group of neurodegenerative disorders characterized by lower-limb spasticity and weakness. Silver syndrome (SS) is particularly disabling dominantly inherited form HSP, complicated amyotrophy the hand muscles. Having excluded multiple known HSP loci, we undertook genomewide screen for linkage SS in one large multigenerational family, which revealed evidence locus, have designated “SPG17,” to chromosome 11q12-q14. Haplotype construction analysis recombination events permitted minimal interval defining SPG17 be refined ∼13 cM, flanked markers D11S1765 D11S4136. second family was not linked SPG17, demonstrating further genetic heterogeneity even within this clinically distinct subtype.
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