A case of Spinocerebellar Ataxia from ethnic tribe of Assam

Kayal, Ashok K; Goswami, Munindra; Das, Manas; Masaraf, Hussain

doi:10.4103/0972-2327.82802

Cited by 7 publications

(5 citation statements)

References 5 publications

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“…[51112] Almost all previously published studies suggest that there is a strong correlation of clinical presentation to CAG repeat counts. Some common undisputed genotype phenotype correlations are listed below.…”

Section: Discussionmentioning

confidence: 99%

“…The clinical and genetic profile of SCA7 is derived mostly from the Scandinavian studies[ 2 7 8 9 10 ] and a few recent Asian studies. [ 5 11 12 ] Almost all previously published studies suggest that there is a strong correlation of clinical presentation to CAG repeat counts. Some common undisputed genotype phenotype correlations are listed below.…”

Section: Discussionmentioning

confidence: 99%

“…[ 12 ] A single case of SCA7 reported from Assam in India had pure ataxic syndrome. [ 5 ] This observation may reflect the differing population genetics between the Scandinavian and Asian regions.…”

Section: Discussionmentioning

confidence: 99%

“…[2] The condition has been rarely reported from India. [45] The present report describes a family of SCA7, consisting of six affected members, from the Belgaum region of Northern Karnataka in South India.…”

Section: Introductionmentioning

confidence: 99%

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Spinocerebellar ataxia type 7: Report of an Indian family

Wali

2013

Ann Indian Acad Neurol

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Spinocerebellar ataxia type 7 (SCA7) is a form of autosomal dominant cerebellar ataxia which is associated with pigmentary retinal degeneration. It is known for its world-wide rarity except in the Scandinavian countries. It is very rarely reported from India and the neighbouring Asian countries. The present report describes the neurogenetic findings of a family of SCA7, from the northern part of Karnataka in South India. It documents the wide intrafamilial phenotypic variability, which could be correlated with the CAG repeat counts and phenomenon of anticipation. Genotype phenotype correlation highlighted certain disparities in comparison with the previous studies. The report highlights the need for multiethnic population studies and the role of genetic counseling and prenatal testing in SCA7 patients.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Spinocerebellar ataxia type 7: Report of an Indian family

Wali

2013

Ann Indian Acad Neurol

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“…A recent communication reported detection of rare SCA 7 from ethnic tribe of Assam. [45] In a recent study from Western India, Khadilkar et al . reported 14 consecutive index cases of SCA and found that SCA 2 (10/14) was the commonest.…”

Section: Introductionmentioning

confidence: 99%

An update on Spino-cerebellar ataxias

Mondal

Paul

et al. 2013

Ann Indian Acad Neurol

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The dominantly inherited ataxias, also known as Spino-cerebellar ataxias (SCAs), are rapidly expanding entities. New mutations are being identified at remarkable regularity. Recent awareness of molecular abnormalities in SCAs has addressed some of the long sought questions, but gaps in knowledge still exist. Three major categories of SCAs, according to molecular mechanisms, have evolved over recent few years: Polyglutamate expansion ataxia, non-coding zone repeat ataxia, and ataxia due to conventional mutation. Using the fulcrum of these mechanisms, the article provides an update of SCAs. Shared and specific clinical features, genetic abnormalities, and possible links between molecular abnormalities and cerebellar degeneration have been discussed. Emphasis has been placed on the mechanisms of polyglutamate toxicity.

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Genetic testing for clinically suspected spinocerebellar ataxias: report from a tertiary referral centre in India

Venkatesh

Kandasamy

Moily

et al. 2018

J Genet

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Spinocerebellar ataxias (SCAs) are a heterogeneous group of neurodegenerative syndromes, characterized by a wide range of muscular weakness and motor deficits, caused due to cerebellar degeneration. The prevalence of the syndromes of SCA varies across the world and is known to be linked to the instability of trinucleotide repeats within the high-end normal alleles, along with susceptible haplotype. We estimated sizes of the CAG or GAA repeat expansions at the SCA1, SCA2, SCA3, SCA12 and frataxin loci among 864 referrals of subjects to genetic counselling and testing (GCAT) clinic, National Institute of Mental Health and Neurosciences, Bengaluru, India, with suspected SCA. The most frequent mutations detected were SCA1 (n = 100 (11.6%)) and SCA2 (n = 98 (11.3%)) followed by SCA3 (n = 40 (4.6%)), FRDA (n = 20 (2.3%)) and SCA12 (n = 8 (0.9%)).

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A case of Spinocerebellar Ataxia from ethnic tribe of Assam

Cited by 7 publications

References 5 publications

Spinocerebellar ataxia type 7: Report of an Indian family

Spinocerebellar ataxia type 7: Report of an Indian family

An update on Spino-cerebellar ataxias

Genetic testing for clinically suspected spinocerebellar ataxias: report from a tertiary referral centre in India

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