Analysis of CAG repeats in SCA1, SCA2, SCA3, SCA6, SCA7 and DRPLA loci in spinocerebellar ataxia patients and distribution of CAG repeats at the SCA1, SCA2 and SCA6 loci in nine ethnic populations of eastern India

Basu, P.; Chattopadhyay, Biplab; Gangopadhaya, Prasanta K.; Mukherjee, Subhas; Sinha, Krishna K.; Das, Shyamal Kumar; Roychoudhury, Susanta; Majumder, Partha P.; Bhattacharyya, Nitai P.

doi:10.1007/s004390000320

Cited by 62 publications

(46 citation statements)

References 29 publications

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“…The authors also found evidence of a common founding mutation 43 . Basu et al, investigating a series of nine different ethnic populations in India, concluded that SCA 2 was the most common 44 . Velazquez-Perez studied 125 families with SCA in Cuba and concluded that SCA 2 (present in 120 families) was the most common form.…”

Section: Scamentioning

confidence: 99%

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Spinocerebellar ataxias

Teive¹

2009

Arq. Neuro-Psiquiatr.

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-Spinocerebellar ataxias (SCAs) constitute a heterogeneous group of neurodegenerative diseases characterized by progressive cerebellar ataxia in association with some or all of the following conditions: ophthalmoplegia, pyramidal signs, movement disorders, pigmentary retinopathy, peripheral neuropathy, cognitive dysfunction and dementia. Objective: To carry out a clinical and genetic review of the main types of SCA. Method: The review was based on a search of the PUBMED and OMIM databases. Results: Thirty types of SCAs are currently known, and 16 genes associated with the disease have been identified. The most common types are SCA type 3, or Machado-Joseph disease, SCA type 10 and SCA types 7, 2, 1 and 6. SCAs are genotypically and phenotypically very heterogeneous. A clinical algorithm can be used to distinguish between the different types of SCAs. Conclusions: Detailed clinical neurological examination of SCA patients can be of great help when assessing them, and the information thus gained can be used in an algorithm to screen patients before molecular tests to investigate the correct etiology of the disease are requested.KEY WORDS: spinocerebellar ataxias, cerebellar atrophy, genotype, phenotype. Ataxias espinocerebelaresResumo -As ataxias espinocerebelares (AECs) compreendem um grupo heterogeneo de enfermidades neurodegenerativas, que se caracterizam pela presença de ataxia cerebelar progressiva, associada de forma variada com oftalmoplegia, sinais piramidais, distúrbios do movimento, retinopatia pigmentar, neuropatia periférica, disfunção cognitiva e demência. Objetivo: Realizar uma revisão clínico-genética dos principais tipos de AECs. Método: A revisão foi realizada através da pesquisa pelo sistema do PUBMED e do OMIM. Resultados: Na atualidade existem cerca de 30 tipos de AECs, com a descoberta de 16 genes. Os tipos mais comuns são a AEC tipo 3, ou doença de Machado-Joseph, a AEC tipo 10, e as AECs tipo 7, 2 1, e 6. As AECs apresentam grande heterogeneidade genotípica e fenotípica. Pode-se utilizar um algoritmo clínico para a pesquisa dos diferentes tipos de AECs. Conclusões: O exame clínico neurológico minucioso nos pacientes com AECs pode auxiliar sobremaneira na avaliação clínica destes pacientes, utilizando-se desta forma de um algoritmo, com os dados clínicos, que pode servir como um instrumento de triagem para a solicitação dos testes de genética molecular, para a correta investigação etiológica.

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Section: Scamentioning

confidence: 99%

“…SCA 2 locus has been mapped to chromosome 12 (12q24.13), and the genetic mutation responsible for the disease is a CAG trinucleotide expansion with between 34 and 59 repeats [3][4][5][6][7][8][9][10][43][44][45] .…”

Section: Scamentioning

confidence: 99%

Spinocerebellar ataxias

Teive¹

2009

Arq. Neuro-Psiquiatr.

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“…There is a wide variation in the prevalence of SCA1 amongst ADCA families between the different ethnic and geographical groups. It varies from as high as 41% in the South African and Russian ADCA pedigrees to intermediate in the Indian (7-16%), Italian (21%), German (9%), Chinese (7%) and Korean (12%) ADCA families and has an extremely low prevalence in Taiwan (1.2%) (Illarioshkin et al 1996;Schols et al 1997;Basu et al 2000;Saleem et al 2000;Zhou et al 2001;Bryer et al 2003;Lee et al 2003;Brusco et al 2004;Sinha et al 2004;Tsai et al 2004). Even within the Japanese population, the prevalence is very heterogeneous varying from 3% to 25% (Takano et al 1998;Onodera et al 2000;Sasaki et al 2000;Maruyama et al 2002;Matsumura et al 2003;Sasaki et al 2003).…”

Section: Introductionmentioning

confidence: 96%

Insights into the mutational history and prevalence of SCA1 in the Indian population through anchored polymorphisms

et al. 2005

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There is a wide variation in prevalence of spinocerebellar ataxia type 1 (SCA1) in different populations. In the present study, we observed SCA1 in approximately 22% (37/167 families) of the autosomal dominant cerebellar ataxias (ADCAs) in the Indian population. We investigated the role of various genetic factors like repeat length, interruption pattern and chromosomal background in predisposing the repeats to instability in these families. We analyzed 12 markers (9 SNPs and 3 microsatellite markers) and found 3 of them, spanning a region of approximately 65 kbp to be linked with the disease locus in the Indian population. The haplotype C-4-C defined by rs1476464 (SNP9)-D6S288-rs2075974 (SNP1), which was extremely rare in nonaffected chromosomes (approximately 3%), was observed to be significantly (P<0.0000) associated with the expanded chromosomes in approximately 44% of SCA1 families. This haplotype was found in all nonhuman primates. SNP1 (C/T), which showed a skewed allelic distribution between large (LN > 30 repeats) and small normal (SN

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“…The disease is progressive and patients become dependent on others within a few years of onset. SCA-2 is among the three (with SCA3 and SCA6) most frequent types of SCAs worldwide [1,7,8,] whereas it has been reported as the most common SCA phenotype in India [9,10,11,12]. …”

Section: Introductionmentioning

confidence: 99%

Quantitative Profiling and Identification of Plasma Proteins of Spinocerebellar Ataxia Type 2 Patients

Swarup

Srivastava²,

Padma³

et al. 2013

Neurodegener Dis

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Background: Spinocerebellar ataxia type 2 (SCA2) is an autosomal-dominant hereditary ataxia characterized by progressive gait and limb ataxia, dysarthria, slow saccades, neuropathy and dementia. The expansion of trinucleotide CAG repeats in the coding region of the ATXN-2 gene leads to expanded polyglutamine stretch in the mutated protein which causes neuronal death. Objective: In this study, we investigated the blood plasma of SCA2 patients to find protein biomarkers. Methods: Thirty-two ataxia patients clinically suspected for SCA2 were evaluated by the International Co-operative Ataxia Rating Scale followed by genetic analysis using PCR. Plasma proteomics of SCA2 patients and age- and gender-matched healthy controls was done using 2D-difference in-gel electrophoresis, LC-MS/MS and Western blot. Results: Genetic analysis confirmed 10 of 32 suspected SCA2 patients. Proteomic data revealed nine differentially expressed proteins in SCA2. These proteins find good association with oxidative stress, calcium-dependent apoptosis, neuropathy, and cognitive impairment in SCA2 patients. Interestingly, the elevated levels of the voltage-dependent calcium channel γ-3 subunit showed a direct correlation with calcium-generated apoptosis of Purkinje cells. The cognitive deficit, a common symptom in SCA2 patients, seems to correlate with decreased levels of transthyretin and retinol-binding protein-4. Conclusions: Some of these identified proteins in SCA2 can be useful for therapeutic, diagnostic and prognostic purposes.

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Analysis of CAG repeats in SCA1, SCA2, SCA3, SCA6, SCA7 and DRPLA loci in spinocerebellar ataxia patients and distribution of CAG repeats at the SCA1, SCA2 and SCA6 loci in nine ethnic populations of eastern India

Cited by 62 publications

References 29 publications

Spinocerebellar ataxias

Spinocerebellar ataxias

Insights into the mutational history and prevalence of SCA1 in the Indian population through anchored polymorphisms

Quantitative Profiling and Identification of Plasma Proteins of Spinocerebellar Ataxia Type 2 Patients

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