Literature DB >> 6504324

Spinocerebellar ataxia in a large kindred: age at onset, reproduction, and genetic linkage studies.

J L Haines, L J Schut, L R Weitkamp, M Thayer, V E Anderson.   

Abstract

We studied a large kindred with autosomal dominant spinocerebellar ataxia (SCA) to assess reproductive performance, the impact of genetic counseling, and linkage relationships of the SCA locus. Reproduction was not lower in those with SCA than in unaffected sibs or first cousins. Genetic counseling reduced reproduction during the risk period for development of SCA. Given autosomal dominant transmission of a single gene, we found strong evidence that the locus for SCA in this kindred is linked to the HLA loci.

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Year:  1984        PMID： 6504324     DOI： 10.1212/wnl.34.12.1542

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  19 in total

Review 1.  SCA1-phosphorylation, a regulator of Ataxin-1 function and pathogenesis.

Authors:  Harry T Orr
Journal:  Prog Neurobiol       Date:  2012-04-16       Impact factor: 11.685

2.  Spinocerebellar ataxia: multipoint linkage analysis of genes associated with the disease locus.

Authors:  P J Wilkie; L J Schut; S S Rich
Journal:  Hum Genet       Date:  1991-08       Impact factor: 4.132

3.  Brain acetylcholinesterase activity is markedly reduced in dominantly-inherited olivopontocerebellar atrophy.

Authors:  S J Kish; L Schut; J Simmons; J Gilbert; L J Chang; M Rebbetoy
Journal:  J Neurol Neurosurg Psychiatry       Date:  1988-04       Impact factor: 10.154

4.  The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps telomeric to the HLA complex and is closely linked to the D6S89 locus in three large kindreds.

Authors:  H Y Zoghbi; C Jodice; L A Sandkuijl; T J Kwiatkowski; A E McCall; S A Huntoon; P Lulli; M Spadaro; M Litt; H M Cann
Journal:  Am J Hum Genet       Date:  1991-07       Impact factor: 11.025

5.  The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps centromeric to D6S89 and shows no recombination, in nine large kindreds, with a dinucleotide repeat at the AM10 locus.

Authors:  T J Kwiatkowski; H T Orr; S Banfi; A E McCall; C Jodice; F Persichetti; A Novelletto; F LeBorgne-DeMarquoy; L A Duvick; M Frontali
Journal:  Am J Hum Genet       Date:  1993-08       Impact factor: 11.025

6.  Tight linkage of the gene for spinocerebellar ataxia to D6S89 on the short arm of chromosome 6 in a kindred for which close linkage to both HLA and F13A1 is excluded.

Authors:  B J Keats; M S Pollack; A McCall; M A Wilensky; L J Ward; M Lu; H Y Zoghbi
Journal:  Am J Hum Genet       Date:  1991-11       Impact factor: 11.025

7.  Confirmation of the SCA-2 locus as an alternative locus for dominantly inherited spinocerebellar ataxias and refinement of the candidate region.

Authors:  I Lopes-Cendes; E Andermann; E Attig; F Cendes; S Bosch; M Wagner; F Gerstenbrand; F Andermann; G A Rouleau
Journal:  Am J Hum Genet       Date:  1994-05       Impact factor: 11.025

8.  Spinocerebellar ataxia: localization of an autosomal dominant locus between two markers on human chromosome 6.

Authors:  S S Rich; P Wilkie; L Schut; G Vance; H T Orr
Journal:  Am J Hum Genet       Date:  1987-10       Impact factor: 11.025

Review 9.  The unstable repeats--three evolving faces of neurological disease.

Authors:  David L Nelson; Harry T Orr; Stephen T Warren
Journal:  Neuron       Date:  2013-03-06       Impact factor: 17.173

10.  Molecular heterogeneity of autosomal dominant cerebellar ataxia: analysis of flanking microsatellites of the spinocerebellar ataxia 1 locus in a northern European family unequivocally demonstrates non-linkage.

Authors:  A Lunkes; S Gispert; J Enczmann; G Auburger
Journal:  Hum Genet       Date:  1993-05       Impact factor: 4.132
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