The Parkinsonian Phenotype of Spinocerebellar Ataxia Type 2

Lu, Chin‐Song; Chou, Yah‐Huei Wu; Kuo, Pei-Chi; Chang, Hsiu‐Chen; Weng, Yi-Hsin

doi:10.1001/archneur.61.1.35

Cited by 92 publications

(70 citation statements)

References 19 publications

(20 reference statements)

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“…23,24 The results of Sobczak et al 25 showed that the CAA interruptions are major determinants of the CAG repeat folding in the SCA2 transcripts. The SCA2 transcripts interrupted by the CAA should generate shorter branched hairpins and the uninterrupted repeats transcripts form single slippery hairpins.…”

Section: Discussionmentioning

confidence: 99%

“…The patients who carried SCA2 expansions with and without interruptions show two different phenotypes. 23,24 It may be caused by the different CAG repeat folding that would interact differently with doublestranded RNA binding proteins and interfere with mRNA transcription or translation. 24 That structural organization of CAG expansions with interruption associate with phenotypic variation has been also reported in other neurodegenerative disorders such as SCA1 (see ref.…”

Section: Discussionmentioning

confidence: 99%

“…It is seen occasionally in German 28 and Japanese 10 populations. After Gwinn-Hardy et al 23 reported that four families with SCA2 were identified among 41 families with familial parkinsonism, about 10% of familial parkinsonism carried the expanded SCA2 CAG repeats in Taiwan people. Therefore, it is possible that the mutation rate of potential modifiers might account for the ethnic differences in the predisposition of parkinsonism-predominant SCA2.…”

Section: Discussionmentioning

confidence: 99%

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Genetic and clinical analysis in a Chinese parkinsonism-predominant spinocerebellar ataxia type 2 family

Sun

Satake

Zhang³

et al. 2011

J Hum Genet

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Parkinson's disease is a degenerative central nervous system disorder that often impairs motor skills, speech and other functions. We discovered a large Chinese family showing primarily parkinsonism symptoms with autosomal dominant inheritance. Six affected individuals in the family showed typical parkinsonism symptoms, including pill-rolling tremor. Two other affected individuals showed cerebellar ataxia symptoms. A whole-genome scan using the 50K single nucleotide polymorphism array with three different linkage methods detected two positive regions on chromosome 12q24.1 and 5q13.3. The ATXN2 gene, responsible for spinocerebellar ataxia type 2 (SCA2) was located precisely in the center of the positive region on chromosome 12. Further analysis of SCA2 revealed heterozygous pathological CAG expansions in the family. The affected individuals' symptoms were typical of parkinsonism, but complex. Inverse correlation between CAG repeat size and age of onset is not obvious in this pedigree. This parkinsonism-predominant SCA2 family shared the same disease gene locus with other 'standard' SCA2 families, but it is possible that variations in one or more modifier genes might account for the parkinsonism-predominant SCA2 predisposition observed in this pedigree.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Genetic and clinical analysis in a Chinese parkinsonism-predominant spinocerebellar ataxia type 2 family

Sun

Satake

Zhang³

et al. 2011

J Hum Genet

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“…Previous clinical and pathologic findings emphasize the need to evaluate the significance of polyglutamine repeat expansions of these genes in PD worldwide. [4][5][6][7][8][9] Most studies performed to date, including this study, are biased by case selection at specialist movement disorders clinics. However, to get a better estimate of the frequency of repeat expansions in such a setting, their relative contribution to disease worldwide, we performed a large multicenter study with members of the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium.…”

mentioning

confidence: 99%

“…Likewise, a study in Asian patients identified 7 SCA2 carriers that showed overlapping phenotype with ataxia such as dysarthria and postural instability. 7 However, such patients would not have been included in this study because the inclusion criterion was diagnosis of PD. Our study also did not investigate the role of interruptions in the repeats on PD, thus we cannot draw any conclusions for this subcategory of patients.…”

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confidence: 99%

Large-scale assessment of polyglutamine repeat expansions in Parkinson disease

Wang¹,

Aasly²,

Annesi³

et al. 2015

Neurology

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Objectives: We aim to clarify the pathogenic role of intermediate size repeat expansions of SCA2, SCA3, SCA6, and SCA17 as risk factors for idiopathic Parkinson disease (PD). Methods:We invited researchers from the Genetic Epidemiology of Parkinson's Disease Consortium to participate in the study. There were 12,346 cases and 8,164 controls genotyped, for a total of 4 repeats within the SCA2, SCA3, SCA6, and SCA17 genes. Fixed-and random-effects models were used to estimate the summary risk estimates for the genes. We investigated between-study heterogeneity and heterogeneity between different ethnic populations.Results: We did not observe any definite pathogenic repeat expansions for SCA2, SCA3, SCA6, and SCA17 genes in patients with idiopathic PD from Caucasian and Asian populations. Furthermore, overall analysis did not reveal any significant association between intermediate repeats and PD. The effect estimates (odds ratio) ranged from 0.93 to 1.01 in the overall cohort for the SCA2, SCA3, SCA6, and SCA17 loci.Conclusions: Our study did not support a major role for definite pathogenic repeat expansions in SCA2, SCA3, SCA6, and SCA17 genes for idiopathic PD. Thus, results of this large study do not support diagnostic screening of SCA2, SCA3, SCA6, and SCA17 gene repeats in the common idiopathic form of PD. Likewise, this largest multicentered study performed to date excludes the role of intermediate repeats of these genes as a risk factor for PD.

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When Is Ataxia Not Ataxia?

Gwinn‐Hardy¹

2004

Arch Neurol

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The Parkinsonian Phenotype of Spinocerebellar Ataxia Type 2

Cited by 92 publications

References 19 publications

Genetic and clinical analysis in a Chinese parkinsonism-predominant spinocerebellar ataxia type 2 family

Genetic and clinical analysis in a Chinese parkinsonism-predominant spinocerebellar ataxia type 2 family

Large-scale assessment of polyglutamine repeat expansions in Parkinson disease

When Is Ataxia Not Ataxia?

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