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Comment & Response |

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

Martina Minnerop, MD1; Peter Bauer, MD2
[+] 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.
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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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February 1, 2015
Michel Koenig, MD, PhD; Christine Tranchant, MD; Mathieu Anheim, MD, PhD
1Laboratoire de Génétique de Maladies Rares, Laboratoire de Génétique Moléculaire, Centre Hospitalo–Universitaire de Montpellier, Institut Universitaire de Recherche Clinique, Université de Montpellier, Montpellier, France
2Département de Neurologie, Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, Strasbourg, France
JAMA Neurol. 2015;72(2):239. doi:10.1001/jamaneurol.2014.3921.
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