2000
DOI: 10.1002/1096-8628(20001211)95:4<351::aid-ajmg10>3.0.co;2-r
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Frequency of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Australian patients with spinocerebellar ataxia

Abstract: The frequencies of various genetically defined spinocerebellar ataxias (SCAs) vary in different populations presumably due to founder effects. No data have been published on the Australian population. Although predominantly of Anglo-Celtic extraction, Australia has also received considerable influx from southeastern Europe and more recently eastern and southeastern Asia. We examined the frequency of mutations for SCA types 1, 2, 3, 6, and 7 in southeastern Australia. Of 88 pedigrees with multiple-affected memb… Show more

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Cited by 89 publications
(47 citation statements)
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“…Currently, there are 28 different SCA loci, listed as SCA1 through to SCA30 (SCA9 and SCA24 being unassigned). The SCAs may be classified according to their frequency, i.e., the more common SCAs (e.g., SCAs 1-3), the less common SCAs (e.g., SCAs 5,7,10), and the "private" SCAs, seen only in a single kindred (e.g., SCAs 20, 30) (1 ).…”
Section: Discussionmentioning
confidence: 99%
“…Currently, there are 28 different SCA loci, listed as SCA1 through to SCA30 (SCA9 and SCA24 being unassigned). The SCAs may be classified according to their frequency, i.e., the more common SCAs (e.g., SCAs 1-3), the less common SCAs (e.g., SCAs 5,7,10), and the "private" SCAs, seen only in a single kindred (e.g., SCAs 20, 30) (1 ).…”
Section: Discussionmentioning
confidence: 99%
“…Mutations in SCA1-7 genes so far account for 40-60 % of SCA probands with one or more affected relative [11,15,21,23], whereas they are rarely detected in sporadic cases [18]. We have investigated the frequency of triplet expansions at the SCA8 and SCA12 loci, in a survey of 134 Italian index cases of progressive ataxia (22 familial and 112 sporadic), negative for SCA1-7 expansions.…”
Section: Discussionmentioning
confidence: 99%
“…SCA7 is an autosomal dominant inherited neurodegenerative syndrome of progressive cerebellar ataxia and retinal degeneration with a wide geographic distribution (1)(2)(3)(4)(5)(6). The pronounced anticipation (i.e., worsening disease severity in each successive generation that transmits the mutation) in affected pedigrees made SCA7 a very likely candidate for a causal triplet repeat mutation.…”
Section: Introductionmentioning
confidence: 99%