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Comment & Response
February 2015

Autosomal Recessive Cerebellar Ataxia 3 Due to Homozygote c.132dupA Mutation Within the ANO10 Gene

Author Affiliations
  • 1Institute of Neuroscience and Medicine (INM-1), Research Centre Jülich GmbH, Jülich, Germany
  • 2Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany
JAMA Neurol. 2015;72(2):238-239. doi:10.1001/jamaneurol.2014.3918

To the Editor With great interest we read the article by Renaud et al1 reporting a case series of 9 patients with autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations. The authors discussed the previously reported c.132dupA mutation with a heterozygote carrier frequency of 1/184 and postulated that the homozygote state of this mutation would either have a more severe phenotype or not be viable at all.

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