Autosomal recessive spinocerebellar ataxia 20

Report of a new patient and review of literature

Anju Shukla, Priyanka Upadhyai, Jhanvi Shah, K. Neethukrishna, Stephanie Bielas, K. M. Girisha

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

Inherited ataxias are an extremely heterogeneous group of disorders. Autosomal recessive spinocerebellar ataxia 20 (SCAR20) is a recently described disorder characterized by intellectual disability, ataxia, coarse facial features, progressive loss of Purkinje cells in the cerebellum and often hearing loss and skeletal abnormalities. Mutations in the gene SNX14, which plays an important role in autophagy, have been found to cause SCAR20. The unique clinical findings of progressive coarsening of facial features makes the clinical phenotype recognizable among the various hereditary ataxias. Here we report on a child with a novel missense mutation in the SNX14 gene that appears to be debilitating for protein conformation, function and review the previously reported cases from 15 families.

Original languageEnglish
Pages (from-to)118-123
Number of pages6
JournalEuropean Journal of Medical Genetics
Volume60
Issue number2
DOIs
Publication statusPublished - 01-02-2017

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Ataxia
Spinocerebellar Degenerations
Protein Conformation
Purkinje Cells
Autophagy
Missense Mutation
Hearing Loss
Intellectual Disability
Cerebellum
Genes
Phenotype
Mutation
Spinocerebellar ataxia 20

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

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Autosomal recessive spinocerebellar ataxia 20 : Report of a new patient and review of literature. / Shukla, Anju; Upadhyai, Priyanka; Shah, Jhanvi; Neethukrishna, K.; Bielas, Stephanie; Girisha, K. M.

In: European Journal of Medical Genetics, Vol. 60, No. 2, 01.02.2017, p. 118-123.

Research output: Contribution to journalArticle

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