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Open Access 01-08-2015 | Original Communication

Frequency of rare recessive mutations in unexplained late onset cerebellar ataxia

Authors: M. J. Keogh, H. Steele, K. Douroudis, A. Pyle, J. Duff, R. Hussain, T. Smertenko, H. Griffin, M. Santibanez-Koref, R. Horvath, P. F. Chinnery

Published in: Journal of Neurology | Issue 8/2015

Abstract

Sporadic late onset cerebellar ataxia is a well-described clinical presentation with a broad differential diagnosis that adult neurologists should be familiar with. However, despite extensive clinical investigations, an acquired cause is identified in only a minority of cases. Thereafter, an underlying genetic basis is often considered, even in those without a family history. Here we apply whole exome sequencing to a cohort of 12 patients with late onset cerebellar ataxia. We show that 33 % of ‘idiopathic’ cases harbor compound heterozygous mutations in known ataxia genes, including genes not included on multi-gene panels, or primarily associated with an ataxic presentation.

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Title: Frequency of rare recessive mutations in unexplained late onset cerebellar ataxia
Authors: M. J. Keogh
H. Steele
K. Douroudis
A. Pyle
J. Duff
R. Hussain
T. Smertenko
H. Griffin
M. Santibanez-Koref
R. Horvath
P. F. Chinnery
Publication date: 01-08-2015
Publisher: Springer Berlin Heidelberg
Published in: Journal of Neurology / Issue 8/2015
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-015-7772-x

ACC 2024 Congress

Springer Medicine

Frequency of rare recessive mutations in unexplained late onset cerebellar ataxia

Abstract

ACC 2024 Congress

Springer Medicine

Abstract

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