Spinocerebellar ataxia recessive type 7 due to novel compound heterozygous variants in TPP1: First report from India

•This report highlights the rare and atypical phenotype spinocerebellar ataxia autosomal recessive type 7 of TPP1 deficiency.•This is the first case of SCAR7 belonging to Indian ethnicity with novel compound heterozygous variants in TPP1 gene.•SCAR7 should be considered in patients with childhood on...

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Bibliographic Details
Published in:Parkinsonism & related disorders 2022-01, Vol.94, p.117-119
Main Authors: Holla, Vikram V., Jha, Shreyasi, Pal, Pramod Kumar, Yadav, Ravi, Phulpagar, Prashant, Muthusamy, Babylakshmi, Arunachal, Gautham
Format: Article
Language:English
Subjects:
Atypical CLN2
Autosomal recessive cerebellar ataxia
Cerebellar Ataxia
Humans
India
Mutation - genetics
SCAR7
Spinocerebellar Ataxias - genetics
TPP1
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Summary:•This report highlights the rare and atypical phenotype spinocerebellar ataxia autosomal recessive type 7 of TPP1 deficiency.•This is the first case of SCAR7 belonging to Indian ethnicity with novel compound heterozygous variants in TPP1 gene.•SCAR7 should be considered in patients with childhood onset spastic ataxic syndrome of relatively slow progression.
ISSN:1353-8020
1873-5126
DOI:10.1016/j.parkreldis.2021.12.006