Literature DB >> 10677333

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

E Reid1, A M Dearlove, O Osborn, M T Rogers, D C Rubinsztein.   

Abstract

Genetic loci for autosomal dominant pure hereditary spastic paraplegia (ADPHSP) have been mapped to chromosomes 2p, 8q, 12q, 14q, and 15q. We undertook a genomewide linkage screen of a large family with ADPHSP, for which linkage at all previously identified ADPHSP loci was excluded. Analysis of markers on chromosome 19q gave a peak pairwise LOD score of 3.72 at D19S420, allowing assignment of a novel ADPHSP locus (which we have termed "SPG12") to this region. Haplotype construction and analysis of recombination events narrowed the SPG12 locus to a 16.1-cM region between markers D19S868 and D19S902.

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Year:  2000        PMID： 10677333      PMCID： PMC1288126          DOI： 10.1086/302783

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  25 in total

1.  Subclinical cognitive impairment in autosomal dominant "pure" hereditary spastic paraplegia.

Authors:  E Reid; C Grayson; D C Rubinsztein; M T Rogers; J S Rubinsztein
Journal:  J Med Genet       Date:  1999-10       Impact factor: 6.318

2.  The myelin-associated glycoprotein gene: mapping to human chromosome 19 and mouse chromosome 7 and expression in quivering mice.

Authors:  D E Barton; M Arquint; J Roder; R Dunn; U Francke
Journal:  Genomics       Date:  1987-10       Impact factor: 5.736

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

Authors:  J Hazan; C Lamy; J Melki; A Munnich; J de Recondo; J Weissenbach
Journal:  Nat Genet       Date:  1993-10       Impact factor: 38.330

4.  Faster sequential genetic linkage computations.

Authors:  R W Cottingham; R M Idury; A A Schäffer
Journal:  Am J Hum Genet       Date:  1993-07       Impact factor: 11.025

5.  Avoiding recomputation in linkage analysis.

Authors:  A A Schäffer; S K Gupta; K Shriram; R W Cottingham
Journal:  Hum Hered       Date:  1994 Jul-Aug       Impact factor: 0.444

6.  Autosomal dominant spastic paraplegia: refined SPG8 locus and additional genetic heterogeneity.

Authors:  E Reid; A M Dearlove; M L Whiteford; M Rhodes; D C Rubinsztein
Journal:  Neurology       Date:  1999-11-10       Impact factor: 9.910

7.  Multilocus linkage analysis in humans: detection of linkage and estimation of recombination.

Authors:  G M Lathrop; J M Lalouel; C Julier; J Ott
Journal:  Am J Hum Genet       Date:  1985-05       Impact factor: 11.025

8.  Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q.

Authors:  J K Fink; C T Wu; S M Jones; G B Sharp; B M Lange; A Lesicki; T Reinglass; T Varvil; B Otterud; M Leppert
Journal:  Am J Hum Genet       Date:  1995-01       Impact factor: 11.025

9.  Autosomal dominant familial spastic paraplegia: reduction of the FSP1 candidate region on chromosome 14q to 7 cM and locus heterogeneity.

Authors:  S Gispert; N Santos; R Damen; T Voit; J Schulz; T Klockgether; G Orozco; F Kreuz; J Weissenbach; G Auburger
Journal:  Am J Hum Genet       Date:  1995-01       Impact factor: 11.025

10.  Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families.

Authors:  A E Harding
Journal:  J Neurol Neurosurg Psychiatry       Date:  1981-10       Impact factor: 10.154
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  14 in total

1.  The prevalence of "pure" autosomal dominant hereditary spastic paraparesis in the island of Ireland.

Authors:  P McMonagle; S Webb; M Hutchinson
Journal:  J Neurol Neurosurg Psychiatry       Date:  2002-01       Impact factor: 10.154

2.  Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia.

Authors:  I K Svenson; A E Ashley-Koch; P C Gaskell; T J Riney; W J Cumming; H M Kingston; E L Hogan; R M Boustany; J M Vance; M A Nance; M A Pericak-Vance; D A Marchuk
Journal:  Am J Hum Genet       Date:  2001-04-16       Impact factor: 11.025

3.  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

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

Authors:  H Patel; P E Hart; T T Warner; R S Houlston; M A Patton; S Jeffery; A H Crosby
Journal:  Am J Hum Genet       Date:  2001-05-25       Impact factor: 11.025

5.  Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene.

Authors:  Eleonore Eymard-Pierre; Gaetan Lesca; Sandra Dollet; Filippo Maria Santorelli; Matteo di Capua; Enrico Bertini; Odile Boespflug-Tanguy
Journal:  Am J Hum Genet       Date:  2002-07-26       Impact factor: 11.025

Review 6.  Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.

Authors:  John K Fink
Journal:  Acta Neuropathol       Date:  2013-07-30       Impact factor: 17.088

Review 7.  Hereditary spastic paraplegia.

Authors:  John K Fink
Journal:  Curr Neurol Neurosci Rep       Date:  2006-01       Impact factor: 5.081

Review 8.  Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias.

Authors:  E Reid
Journal:  J Med Genet       Date:  2003-02       Impact factor: 6.318

9.  A novel locus for autosomal dominant "uncomplicated" hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3.

Authors:  Sylvain Hanein; Alexandra Dürr; Pascale Ribai; Sylvie Forlani; Anne-Louise Leutenegger; Isabelle Nelson; Marie-Claude Babron; Nizar Elleuch; Christel Depienne; Céline Charon; Alexis Brice; Giovanni Stevanin
Journal:  Hum Genet       Date:  2007-06-28       Impact factor: 4.132

10.  Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus.

Authors:  M Muglia; C Criscuolo; A Magariello; G De Michele; V Scarano; P D'Adamo; G Ambrosio; A L Gabriele; A Patitucci; R Mazzei; F L Conforti; T Sprovieri; L Morgante; A Epifanio; P La Spina; P Valentino; P Gasparini; A Filla; A Quattrone
Journal:  Neurogenetics       Date:  2003-12-05       Impact factor: 2.660
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