Literature DB >> 8252041

Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q.

J Hazan1, C Lamy, J Melki, A Munnich, J de Recondo, J Weissenbach.   

Abstract

Autosomal dominant familial spastic paraplegia (FSP) is a degenerative disorder of unknown aetiology characterized by a progressive spasticity of the legs. Three families with autosomal dominant FSP of early onset were analysed in linkage studies using highly polymorphic microsatellite markers. Close linkage to a group of markers on chromosome 14q (maximum multipoint lodscore z = 10) was observed in one family. This chromosome 14q candidate region was entirely excluded in the two other families, providing evidence of genetic heterogeneity within a homogeneous clinical form of FSP.

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Year:  1993        PMID: 8252041     DOI: 10.1038/ng1093-163

Source DB:  PubMed          Journal:  Nat Genet        ISSN: 1061-4036            Impact factor:   38.330


  28 in total

1.  A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34.

Authors:  B Fontaine; C S Davoine; A Dürr; C Paternotte; I Feki; J Weissenbach; J Hazan; A Brice
Journal:  Am J Hum Genet       Date:  2000-02       Impact factor: 11.025

Review 2.  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

3.  Genome-Wide Analyses of Working-Memory Ability: A Review.

Authors:  E E M Knowles; S R Mathias; D R McKay; E Sprooten; John Blangero; Laura Almasy; D C Glahn
Journal:  Curr Behav Neurosci Rep       Date:  2014-12

4.  Hereditary spastic paraplegia: LOD-score considerations for confirmation of linkage in a heterogeneous trait.

Authors:  M P Dubé; M A Mlodzienski; Z Kibar; M R Farlow; G Ebers; P Harper; E H Kolodny; G A Rouleau; D A Figlewicz
Journal:  Am J Hum Genet       Date:  1997-03       Impact factor: 11.025

5.  Autosomal dominant pure spastic paraplegia: a clinical, paraclinical, and genetic study.

Authors:  J E Nielsen; K Krabbe; P Jennum; P Koefoed; L N Jensen; K Fenger; H Eiberg; L Hasholt; L Werdelin; S A Sørensen
Journal:  J Neurol Neurosurg Psychiatry       Date:  1998-01       Impact factor: 10.154

Review 6.  Pure hereditary spastic paraplegia.

Authors:  E Reid
Journal:  J Med Genet       Date:  1997-06       Impact factor: 6.318

7.  A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, maps to chromosome 3q27-q28.

Authors:  G Vazza; M Zortea; F Boaretto; G F Micaglio; V Sartori; M L Mostacciuolo
Journal:  Am J Hum Genet       Date:  2000-06-30       Impact factor: 11.025

8.  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

9.  Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q.

Authors:  P Hedera; S Rainier; D Alvarado; X Zhao; J Williamson; B Otterud; M Leppert; J K Fink
Journal:  Am J Hum Genet       Date:  1999-02       Impact factor: 11.025

10.  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

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