SCA2 in the Indian population: Unified haplotype and variable phenotypic patterns in a large case series

Spinocerebellar ataxia-2 is one of the most prevalent SCA type across the world and one of the commonest in India. We aimed to characterize SCA2 patients both clinically and genetically (ATXN2-CAG repeats and its haplotypic background). A total of 436 SCA2 patients were recruited consecutively compr...

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Veröffentlicht in:	Parkinsonism & related disorders 2021-08, Vol.89, p.139-145
Hauptverfasser:	Sonakar, Akhilesh K, Shamim, Uzma, Srivastava, MV Padma, Faruq, Mohd, Srivastava, Achal K
Format:	Artikel
Sprache:	eng
Schlagworte:	ADCA-Autosomal dominant cerebellar ataxia Adolescent Adult Aged Alleles Ataxia - ethnology Ataxia - genetics Ataxin-2 - genetics ATXN2 gene Child Female Haplotype Haplotypes Humans India - ethnology Male Middle Aged Phenotype Saccades - genetics SCA2-Spinocerebellar ataxia Type-2 Spinocerebellar Ataxias - ethnology Spinocerebellar Ataxias - genetics Tremor - ethnology Tremor - genetics Trinucleotide repeats Whites - ethnology Whites - genetics Young Adult
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