Analysis of spinocerebellar ataxia types 1, 2, 3, and 6, dentatorubral-pallidoluysian atrophy, and Friedreich's ataxia genes in spinocerebellar ataxia patients in the UK

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dc.contributor.authorLeggo J.
dc.contributor.authorDalton A.
dc.contributor.authorMorrison P.J.
dc.contributor.authorDodge A.
dc.contributor.authorConnarty M.
dc.contributor.authorKotze M.J.
dc.contributor.authorRubinsztein D.C.
dc.date.accessioned2011-05-15T16:03:35Z
dc.date.available2011-05-15T16:03:35Z
dc.date.issued1997
dc.description.abstractAccurate clinical diagnosis of the spino-cerebellar ataxias (SCAs) can be diffcult because of overlap in phenotype with other disorders and variation in clinical manifestations. Six SCA loci have been mapped and four disease causing genes identified, in addition to the causative gene for Friedreich's ataxia (FA). All of the identified mutations are expansions of trinucleotide repeat tracts. The SCA2 and SCA6 genes were published recently. The extent of the normal CAG size ranges at these loci and the relative frequencies of the known causes of SCA in the UK are not known. This study first investigated the normal size ranges of the SCA2 and SCA6 loci by genotyping control populations of West African and South African subjects, since African populations generally show the greatest allelic diversity. We found one allele larger than the previously determined normal range for SCA2, and our results at the SCA6 locus agreed with the previously reported normal range. The second component of the study assessed the relative frequencies of the SCA1, 2, 3, and 6, DRPLA, and FA trinucleotide repeat mutations in 146 patients presenting with SCA-like symptoms referred to genetic diagnostic laboratories in the UK. We detected mutations in 14% of patients referred with a diagnosis of autosomal dominant SCA, and in 15% of patients referred with spinocerebellar ataxia where we did not have sufficient family history data available to allow categorisation as familial or sporadic cases. Friedreich's ataxia accounted for 3% of the latter category of cases in our sample, but the most common causes of SCA were SCA2 and SCA6.
dc.description.versionArticle
dc.identifier.citationJournal of Medical Genetics
dc.identifier.citation34
dc.identifier.citation12
dc.identifier.issn222593
dc.identifier.urihttp://hdl.handle.net/10019.1/12687
dc.subjectafrica
dc.subjectaged
dc.subjectallele
dc.subjectarticle
dc.subjectautosomal dominant disorder
dc.subjectcerebellar ataxia
dc.subjectchild
dc.subjectcontrolled study
dc.subjectdentatorubropallidoluysian atrophy
dc.subjectfemale
dc.subjectfriedreich ataxia
dc.subjectgene
dc.subjectgene frequency
dc.subjectgene mutation
dc.subjectgenotype
dc.subjecthuman
dc.subjectmajor clinical study
dc.subjectmale
dc.subjectpreschool child
dc.subjectpriority journal
dc.subjecttrinucleotide repeat
dc.subjectunited kingdom
dc.subjectAdolescent
dc.subjectAdult
dc.subjectAged
dc.subjectCalcium Channels
dc.subjectChild
dc.subjectChild, Preschool
dc.subjectFemale
dc.subjectFriedreich Ataxia
dc.subjectGreat Britain
dc.subjectHumans
dc.subjectMale
dc.subjectMiddle Aged
dc.subjectNerve Tissue Proteins
dc.subjectNuclear Proteins
dc.subjectProteins
dc.subjectSpinocerebellar Degenerations
dc.titleAnalysis of spinocerebellar ataxia types 1, 2, 3, and 6, dentatorubral-pallidoluysian atrophy, and Friedreich's ataxia genes in spinocerebellar ataxia patients in the UK
dc.typeArticle
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