Literature DB >> 7825577

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

J K Fink1, C T Wu, S M Jones, G B Sharp, B M Lange, A Lesicki, T Reinglass, T Varvil, B Otterud, M Leppert.   

Abstract

Autosomal dominant, uncomplicated familial spastic paraplegia (FSP) is a genetically heterogeneous disorder characterized by insidiously progressive lower-extremity spasticity. Recently, a locus on chromosome 14q was shown to be tightly linked with the disorder in one of three families. We performed linkage analysis in a kindred with autosomal dominant uncomplicated FSP. After excluding the chromosome 14q locus, we observed tight linkage of the disorder to a group of markers on chromosome 15q (maximum two-point lod score 9.70; theta = .05). Our results clearly establish the existence of a locus for autosomal dominant FSP in the centromeric region of chromosome 15q. Comparing clinical and genetic features in FSP families linked to chromosome 14q with those linked to chromosome 15q may provide insight into the pathophysiology of this disorder.

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Year:  1995        PMID: 7825577      PMCID: PMC1801321     

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


  23 in total

1.  Hereditary (familial) spastic paraplegia; further clinical and pathologic observations.

Authors:  G A SCHWARZ; C N LIU
Journal:  AMA Arch Neurol Psychiatry       Date:  1956-02

2.  Etiological heterogeneity in X-linked spastic paraplegia.

Authors:  L D Keppen; M F Leppert; P O'Connell; Y Nakamura; D Stauffer; M Lathrop; J M Lalouel; R White
Journal:  Am J Hum Genet       Date:  1987-11       Impact factor: 11.025

3.  The autosomal dominant form of "pure" familial spastic paraplegia: clinical findings and linkage analysis of a large pedigree.

Authors:  R M Boustany; E Fleischnick; C A Alper; M L Marazita; M A Spence; J B Martin; E H Kolodny
Journal:  Neurology       Date:  1987-06       Impact factor: 9.910

4.  Hereditary spastic paraplegia in Western Norway.

Authors:  H Skre
Journal:  Clin Genet       Date:  1974       Impact factor: 4.438

5.  Polymorphic DNA region adjacent to the 5' end of the human insulin gene.

Authors:  G I Bell; J H Karam; W J Rutter
Journal:  Proc Natl Acad Sci U S A       Date:  1981-09       Impact factor: 11.205

6.  Localization of the autosomal dominant HLA-linked spinocerebellar ataxia (SCA1) locus, in two kindreds, within an 8-cM subregion of chromosome 6p.

Authors:  L P Ranum; L A Duvick; S S Rich; L J Schut; M Litt; H T Orr
Journal:  Am J Hum Genet       Date:  1991-07       Impact factor: 11.025

Review 7.  A Dutch family with autosomal dominant pure spastic paraparesis (Strümpell's disease).

Authors:  P Scheltens; R P Bruyn; G J Hazenberg
Journal:  Acta Neurol Scand       Date:  1990-09       Impact factor: 3.209

8.  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

9.  Linkage studies of X-linked recessive spastic paraplegia using DNA probes.

Authors:  S Kenwrick; V Ionasescu; G Ionasescu; C Searby; A King; M Dubowitz; K E Davies
Journal:  Hum Genet       Date:  1986-07       Impact factor: 4.132

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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  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

3.  TDP-43 pathology in a case of hereditary spastic paraplegia with a NIPA1/SPG6 mutation.

Authors:  Maria Martinez-Lage; Laura Molina-Porcel; Dana Falcone; Leo McCluskey; Virginia M-Y Lee; Vivianna M Van Deerlin; John Q Trojanowski
Journal:  Acta Neuropathol       Date:  2012-08       Impact factor: 17.088

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.  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

9.  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

10.  NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6).

Authors:  Shirley Rainier; Jing-Hua Chai; Debra Tokarz; Robert D Nicholls; John K Fink
Journal:  Am J Hum Genet       Date:  2003-09-23       Impact factor: 11.025

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