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Molecular spectrum, family screening and genetic counselling of Spinocerebellar Ataxia (SCA) cases in an Indian scenario.
Vishwakarma, Priyanka; Agarwal, Sarita; Dean, Deepika Delsa; Muthuswamy, Srinivasan; Mandal, Kausik.
Afiliação
  • Vishwakarma P; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Lucknow, India.
  • Agarwal S; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Lucknow, India.
  • Dean DD; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Lucknow, India.
  • Muthuswamy S; Department of Life sciences, National Institute of Technology, Rourkela, Odisha.
  • Mandal K; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Lucknow, India.
J Neurogenet ; 35(4): 370-380, 2021.
Article em En | MEDLINE | ID: mdl-34159894
Spinocerebellar Ataxia (SCA) is a heterogeneous adult-onset disorder with an autosomal dominant inheritance pattern mainly caused by triplet repeat expansions. Clinical diagnosis of SCA is based on phenotypic features followed by confirmation through molecular diagnosis. To identify status of repeat range in Indian SCA cases and provide extended family screening, we enrolled 70 clinical SCA suspects. For molecular diagnosis, multiplex PCR (M-PCR) was used for common Indian SCA subtypes 1, 2, 3, 6, 7, 10, 12 and 17. TP-PCR was further used in SCA2, 7 and 10 to identify larger expansions. Eighteen out of 70 SCA suspects (25%) were found to be positive for various SCA subtypes- (5 SCA1 (28%), 6 SAC2 (34%), 2 SCA3 (12%), 3 SCA7 (16%) and one each for SCA6 (1%) and SCA17 (1%) subtypes). Genetic counselling and extended family screening were offered to all positive cases and yielded additional nine cases. We have established M-PCR and TP-PCR to detect the CAG repeat expansion in SCA suspects. This method can confirm SCA subtypes in a reliable, rapid and cost-effective way. Genetic characterization of SCA-related genes has great clinical relevance, as it could provide additional information and guidance to clinicians and family members regarding prognosis.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ataxias Espinocerebelares / Aconselhamento Genético Tipo de estudo: Diagnostic_studies / Guideline / Screening_studies Limite: Adult / Humans Idioma: En Revista: J Neurogenet Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Índia

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ataxias Espinocerebelares / Aconselhamento Genético Tipo de estudo: Diagnostic_studies / Guideline / Screening_studies Limite: Adult / Humans Idioma: En Revista: J Neurogenet Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Índia