RGD Reference Report - Refinement of the Silver syndrome locus on chromosome 11q12-q14 in four families and exclusion of eight candidate genes. - Rat Genome Database

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Refinement of the Silver syndrome locus on chromosome 11q12-q14 in four families and exclusion of eight candidate genes.

Authors: Windpassinger, C  Wagner, K  Petek, E  Fischer, R  Auer-Grumbach, M 
Citation: Windpassinger C, etal., Hum Genet. 2003 Dec;114(1):99-109. Epub 2003 Sep 16.
RGD ID: 1600602
Pubmed: PMID:13680364   (View Abstract at PubMed)
DOI: DOI:10.1007/s00439-003-1021-6   (Journal Full-text)

Silver syndrome is a rare variant of autosomal dominant complicated hereditary spastic paraparesis (HSP), in which spasticity of the lower limbs is accompanied by amyotrophy of the hands and occasionally also the lower limbs. The disease locus has been mapped to chromosome 11q12-q14. We report four Austrian families presenting with the typical clinical features of Silver syndrome. Sixteen individuals were affected upon clinical and/or electrophysiological examination. Ten persons showed mild to severe spasticity of the lower limbs. Wasting of the small hand muscles was present in nine affected family members of whom three had also gait disturbance. Three further individuals were asymptomatic. Electrophysiological studies showed normal or slightly to moderately slowed motor nerve conduction velocities, reduced amplitudes and occasionally chronodispersion of compound motor action potentials. In one patient, conduction block was observed. Sensory nerve action potentials were usually normal. Molecular genetic studies demonstrate linkage to chromosome 11q12-q14. Haplotype analysis in affected individuals indicates a common ancestor in the four families. By recombination analysis in affected individuals the Silver syndrome candidate gene interval can be reduced from 13 to 5.9 cM and can now be placed between the markers D11S1765 and D11S987. By sequence analysis of affected individuals eight functional and positional candidate genes could be excluded. Our study confirms the existence of the Silver syndrome locus on chromosome 11q12-q14 and provides the first report of nerve conduction velocity studies in Silver syndrome, which demonstrate the presence of a peripheral predominantly motor neuropathy.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
hereditary spastic paraplegia  IAGP 1600602SPG17 more ...RGD 
hereditary spastic paraplegia  ISOBSCL2 (Homo sapiens)1600602; 1600602SPG17 more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Bscl2  (BSCL2 lipid droplet biogenesis associated, seipin)

Genes (Mus musculus)
Bscl2  (BSCL2 lipid droplet biogenesis associated, seipin)

Genes (Homo sapiens)
BSCL2  (BSCL2 lipid droplet biogenesis associated, seipin)


Additional Information