The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates.

@article{Giunti1998TheRO,
  title={The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates.},
  author={Paola Giunti and G. Sabbadini and Mary G. Sweeney and M. B. Davis and Liana Veneziano and Elide Mantuano and Antonio Federico and Rosaria Plasmati and Marina Frontali and N. W. Wood},
  journal={Brain : a journal of neurology},
  year={1998},
  volume={121 ( Pt 3)},
  pages={
          459-67
        }
}
The spinocerebellar ataxia type 2 (SCA2) is caused by a trinucleotide (CAG) expansion in the coding region of the ataxin 2 gene on chromosome 12q.89 families with autosomal dominant cerebellar ataxia (ADCA) types I, II and III, and 47 isolated cases with idiopathic late onset cerebellar ataxia (ILOCA), were analysed for this mutation. The identification of the SCA2 mutation in 31 out of 38 families with the ADCA I phenotype, but in none of those with ADCA II, ADCA III or ILOCA confirms the… 
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Clinical and molecular studies of 73 Italian families with autosomal dominant cerebellar ataxia type I: SCA1 and SCA2 are the most common genotypes
TLDR
Analysis of triplet repeat numbers in parent-offspring pairs showed greater meiotic instability, which was associated with an earlier onset of the disease in SCA2 families than inSCA1 families, a significant inverse correlation between expansion size and age at onset.
Molecular analysis of autosomal dominant hereditary ataxias in the Indian population: high frequency of SCA2 and evidence for a common founder mutation
TLDR
An analysis of ataxias in 42 Indian families indicates that SCA2 is the most frequent amongst all the ADCAs and the presence of a common founder chromosome for the expanded allele in the Indian population is indicated.
Clinical and molecular analysis of 11 Sicilian SCA2 families: influence of gender on age at onset
TLDR
The data suggest that in SCA2 an unknown sexlinked factor may play a role in the modulation of toxic effects of the polyglutamine tract.
Molecular and clinical study of 18 families with ADCA type II: evidence for genetic heterogeneity and de novo mutation.
TLDR
Analysis of the clinical features in the patients with SCA7 confirmed that the most frequently associated features are pigmentary maculopathy, pyramidal tract involvement, and slow saccades, and it is provided evidence that these repeats represent intermediate alleles that are prone to further expansion.
Molecular epidemiology of spinocerebellar ataxias in Cuba: Insights into SCA2 founder effect in Holguin
Autosomal dominant cerebellar ataxia: SCA2 is the most frequent mutation in eastern India
TLDR
Although slow ocular saccades are highly suggestive of SCA2, it is concluded that they are not universal, nor are they exclusive to this disorder andSCA2 is likely to be the commonest dominant ataxia in eastern India, with further evidence for a founder effect.
A review of the inherited ataxias: recent advances in genetic, clinical and neuropathologic aspects.
SCA2 in the Indian population: Unified haplotype and variable phenotypic patterns in a large case series.
High prevalence of spinocerebellar ataxia type 1 (SCA1) in an isolated region of Japan
A Comprehensive Review of Spinocerebellar Ataxia Type 2 in Cuba
TLDR
The comprehensive characterization reached in Cuba through clinical, neuroepidemiological, neurochemical, and neurophysiological evaluation of SCA2 patients and pre-symptomatic subjects, which has allowed the identification of new disease biomarkers and therapeutical opportunities are highlighted.
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References

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TLDR
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The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia.
TLDR
Haplotype analysis provided no evidence for a single founder chromosome, and diverse ethnic origins were observed among SCA2 kindreds, including typical mild dominant ataxia, the MJD phenotype with facial fasciculations and lid retraction, and early-onset ataxIA with a rapid course, chorea, and dementia.
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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