Unknown

Dataset Information

0

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

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.

SUBMITTER: Patel H 

PROVIDER: S-EPMC1226036 | biostudies-literature | 2001 Jul

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

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

Patel H H   Hart P E PE   Warner T T TT   Houlston R S RS   Patton M A MA   Jeffery S S   Crosby A H AH  

American journal of human genetics 20010525 1

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  ...[more]

Similar Datasets

Unknown A locus for autosomal dominant "pure" hereditary spastic paraplegia maps to chromosome 19q13.
| S-EPMC1288126 | biostudies-literature
Unknown A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3.
| S-EPMC1377251 | biostudies-other
Unknown Locus and allelic heterogeneity in five families with hereditary spastic paraplegia.
| S-EPMC6344291 | biostudies-literature
Unknown Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q.
| S-EPMC1377766 | biostudies-other
Genomics GENOME STUDIES IN HEREDITARY SPASTIC PARAPLEGIA
| PRJNA313999 | ENA
Transcriptomics Transcription profiling of human hereditary spastic paraplegia patients
2007-07-29 | E-GEOD-1300 | biostudies-arrayexpress
Unknown Phenotypic and Genetic Heterogeneity of Adult Patients with Hereditary Spastic Paraplegia from Serbia.
| S-EPMC9497238 | biostudies-literature
Unknown Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19.
| S-EPMC2891134 | biostudies-literature
Unknown Characterization of a novel TFG variant causing autosomal recessive pure hereditary spastic paraplegia.
| S-EPMC11251477 | biostudies-literature
Unknown A new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity.
| S-EPMC1377983 | biostudies-other