Spinocerebellar ataxia type 10 (SCA10): Mutation analysis and common haplotype based inference suggest its rarity in Indian population

Goel, Divya; Suroliya, Varun; Shamim, Uzma; Mathur, Anurag; Faruq, Mohammed

doi:10.1016/j.ensci.2019.100211

Cited by 2 publications

(1 citation statement)

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“…Anjanappa et al, 2019* [85] B a n g a l o r e 3 8 --1 8 ------Goel et al, 2019 [86] 4 6 1 --------reported with varying disease progression. [66] Early onset of the spinocerebellar ataxia has also been known to be associated with large CAG expansion mutations in respective genes.…”

Section: Discussionmentioning

confidence: 99%

Genetics of Ataxias in Indian Population: A Collative Insight from a Common Genetic Screening Tool

Sharma

Sonakar²,

Tyagi

et al. 2022

Advanced Genetics

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Cerebellar ataxias (CAs) represent a group of autosomal dominant and recessive neurodegenerative disorders affecting cerebellum with or without spinal cord. Overall, CAs have preponderance for tandem nucleotide repeat expansions as an etiological factor (10 TREs explain nearly 30–40% of ataxia cohort globally). The experience of 10 years of common genetic ataxia subtypes for ≈5600 patients’ referrals (Pan‐India) received at a single center is shared herein. Frequencies (in %, n) of SCA types and FRDA in the sample cohort are observed as follows: SCA12 (8.6%, 490); SCA2 (8.5%, 482); SCA1 (4.8%, 272); SCA3 (2%, 113); SCA7 (0.5%, 28); SCA6 (0.1%, 05); SCA17 (0.1%, 05), and FRDA (2.2%, 127). A significant amount of variability in TRE lengths at each locus is observed, we noted presence of biallelic expansion, co‐occurrence of SCA‐subtypes, and the presence of premutable normal alleles. The frequency of mutated GAA‐FRDA allele in healthy controls is 1/158 (0.63%), thus an expected FRDA prevalence of 1:100 000 persons. The data of this study are relevant not only for clinical decision making but also for guidance in direction of genetic investigations, transancestral comparison of genotypes, and lastly provide insight for policy decision for the consideration of SCAs under rare disease category.

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Section: Discussionmentioning

confidence: 99%

Genetics of Ataxias in Indian Population: A Collative Insight from a Common Genetic Screening Tool

Sharma

Sonakar²,

Tyagi

et al. 2022

Advanced Genetics

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Spinocerebellar ataxia type 10 and Huntington disease‐like 2 in Venezuela: Further evidence of two different ancestral founder effects

Paradisi,

Arias,

Ikonomu

2024

Annals of Human Genetics

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IntroductionThe American continent populations have a wide genetic diversity, as a product of the admixture of three ethnic groups: Amerindian, European, and African Sub‐Saharan. Spinocerebellar ataxia type 10 (SCA10) and Huntington disease‐like 2 (HDL2) have very ancient ancestral origins but are restricted to two populations: Amerindian and African Sub‐Saharan, respectively. This study aimed to investigate the genetic epidemiological features of these diseases in Venezuela.MethodsIn‐phase haplotypes with the expanded alleles were established in seven unrelated index cases diagnosed with SCA10 and in 11 unrelated index cases diagnosed with HDL2. The origins of remote ancestors were recorded.ResultsThe geographic origin of the ancestors showed grouping in clusters. SCA10 had a minimal general prevalence of 1:256,174 families in the country, but within the identified geographic clusters, the prevalence ranged from 5 per 100,000 to 43 per 100,000 families. HDL2 had a general prevalence of 1:163,016 families, however, within the clusters, the prevalence ranged from 31 per 100,000 to 60 per 100,000 families. The locus‐specific haplotype shared by all families worldwide, including the Venezuelans, supports a single old ancestral origin in each case.ConclusionKnowing the genetic ancestry and geographic origins of patients in Ibero‐American mixed populations could have significant diagnostic implications; thus, both diseases in Venezuela should always be first explored in patients with a suggestive phenotype and ancestors coming from the same known geographic clusters.

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Spinocerebellar ataxia type 10 (SCA10): Mutation analysis and common haplotype based inference suggest its rarity in Indian population

Abstract: HighlightsGenetic screening of SCA10 in large cohort of Indian SCA patients.Estimation of at-risk haplotype using population genetics approach in south Asians.Suggestive rarity of SCA10 in the Indian Population.

Cited by 2 publications

References 28 publications

Genetics of Ataxias in Indian Population: A Collative Insight from a Common Genetic Screening Tool

Genetics of Ataxias in Indian Population: A Collative Insight from a Common Genetic Screening Tool

Spinocerebellar ataxia type 10 and Huntington disease‐like 2 in Venezuela: Further evidence of two different ancestral founder effects

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