Literature DB >> 7833913

Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p.

J Hazan1, B Fontaine, R P Bruyn, C Lamy, J C van Deutekom, C S Rime, A Dürr, J Melki, O Lyon-Caen, Y Agid.   

Abstract

Autosomal dominant familial spastic paraplegia (AD-FSP) is a genetically heterogeneous neurodegenerative disorder characterized by a spasticity of the lower limbs. A locus causing AD-FSP (FSP1) has been previously mapped to chromosome 14q. We now report linkage of a second AD-FSP locus (FSP2) to chromosome 2p21-p24 in five of seven French families and one large Dutch pedigree. The analysis of recombination events and multipoint linkage place FSP2 within a 4 cM interval flanked by loci D2S400 and D2S367.

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Year:  1994        PMID： 7833913     DOI： 10.1093/hmg/3.9.1569

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


  26 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

Review 3.  Patterns of Weakness, Classification of Motor Neuron Disease, and Clinical Diagnosis of Sporadic Amyotrophic Lateral Sclerosis.

Authors:  Jeffrey M Statland; Richard J Barohn; April L McVey; Jonathan S Katz; Mazen M Dimachkie
Journal:  Neurol Clin       Date:  2015-09-08       Impact factor: 3.806

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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