Literature DB >> 9341882

Another pedigree with pure autosomal dominant spastic paraplegia (AD-FSP) from Tibet mapping to 14q11.2-q24.3.

S Huang1, H Li, W H Lo, C Fischer, F Vogel.   

Abstract

The mutant in a family with autosomal-dominant spastic paresis in Northern Tibet was mapped by linkage analysis with several microsatellite markers to a gene locus at 14q11.2-q24.3, an area to which a few mutants leading to a condition with similar clinical signs have previously been mapped. The mutant observed in this pedigree probably arose de novo. Gene loci at 2p21-p24 and 15q, which have been found for other pedigrees with dominant spastic paresis, were excluded. The data in this pedigree do not contradict the hypothesis proposed by another group that there might be anticipation.

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Mesh:

Year:  1997        PMID: 9341882     DOI: 10.1007/s004390050563

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  4 in total

Review 1.  Hereditary spastic paraparesis: a review of new developments.

Authors:  C McDermott; K White; K Bushby; P Shaw
Journal:  J Neurol Neurosurg Psychiatry       Date:  2000-08       Impact factor: 10.154

2.  A new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity.

Authors:  E Reid; A M Dearlove; M Rhodes; D C Rubinsztein
Journal:  Am J Hum Genet       Date:  1999-09       Impact factor: 11.025

3.  A locus for autosomal dominant "pure" hereditary spastic paraplegia maps to chromosome 19q13.

Authors:  E Reid; A M Dearlove; O Osborn; M T Rogers; D C Rubinsztein
Journal:  Am J Hum Genet       Date:  2000-02       Impact factor: 11.025

4.  Quality assessment of whole genome mapping data in the refined familial spastic paraplegia interval on chromosome 14q.

Authors:  C Paternotte; D Rudnicki; C Fizames; C S Davoine; D Mavel; A Dürr; D Samson; C Marquette; D Muselet; N Vega-Czarny; N Drouot; T Voit; B Fontaine; G Gyapay; G Auburger; J Weissenbach; J Hazan
Journal:  Genome Res       Date:  1998-11       Impact factor: 9.043

  4 in total

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