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. 2001 Jul;69(1):209-15.
doi: 10.1086/321267. Epub 2001 May 25.

The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype

H Patel  1 , P E Hart, T T Warner, R S Houlston, M A Patton, S Jeffery, A H Crosby
Affiliations

The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype

H Patel et al. Am J Hum Genet. 2001 Jul.

Abstract

The hereditary spastic paraplegias (HSPs) are a complex group of neurodegenerative disorders characterized by lower-limb spasticity and weakness. Silver syndrome (SS) is a particularly disabling dominantly inherited form of HSP, complicated by amyotrophy of the hand muscles. Having excluded the multiple known HSP loci, we undertook a genomewide screen for linkage of SS in one large multigenerational family, which revealed evidence for linkage of the SS locus, which we have designated "SPG17," to chromosome 11q12-q14. Haplotype construction and analysis of recombination events permitted the minimal interval defining SPG17 to be refined to approximately 13 cM, flanked by markers D11S1765 and D11S4136. SS in a second family was not linked to SPG17, demonstrating further genetic heterogeneity in HSP, even within this clinically distinct subtype.

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Figures

Figure 1
Figure 1
Structure of SS pedigrees 1 and 2. Blackened symbols denote affected individuals.
Figure 2
Figure 2
Chromosome 11q12-q14 haplotype. The haplotype segregating with SS is in black. Reconstructed genotypes are in parentheses. Recombination events in affected individuals restrict the critical interval to an ∼13-cM region between D11S1765 and D11S4136. Blackened symbols denote affected individuals.
Figure 3
Figure 3
Haplotype for pedigree 2, showing microsatellites in the region that shows linkage of SS in family 1. Blackened symbols denote affected individuals.
See this image and copyright information in PMC

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References

Electronic-Database Information

    1. Center for Medical Genetics, Marshfield Medical Research Foundation, http://research.marshfieldclinic.org/genetics/ (for microsatellite-marker map)
    1. Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/Omim/ (for SS [MIM 270685])

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