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Comment & Response |

GNAL Mutations and Dystonia—Reply

Kishore R. Kumar, MBBS, FRACP1,2; Kirill A. Martemyanov, PhD3; Katja Lohmann, PhD1
[+] Author Affiliations
1Institute of Neurogenetics, University of Luebeck, Luebeck, Germany
2Department of Neurogenetics, Kolling Institute of Medical Research, Royal North Shore Hospital and University of Sydney, Sydney, Australia
3Department of Neuroscience, The Scripps Research Institute, Jupiter, Florida
JAMA Neurol. 2014;71(8):1053-1054. doi:10.1001/jamaneurol.2014.1509.
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In Reply We thank Erro and colleagues for their appraisal of our article1 and wish to expand on their 2 major comments. First, they noted that the prevalence of GNAL mutations in dystonia may have initially been overestimated2 and pointed out that all of the follow-up studies reported lower frequencies. At a critical recalculation, these frequencies may even be lower than indicated in the Table by Erro and colleagues: Because Saunders-Pullman et al3 included known mutation-positive families, the correct estimation would exclude those families, resulting in a frequency estimate of 1 of 38 (2.6%). Furthermore, one of the reported variants in the study by Miao et al4 is intronic without affecting a conserved splice site and should not be counted (corrected frequency: 1 of 59 = 1.7%). Thus, in the follow-up studies, the frequency of GNAL mutations was less than 2.6%.3 This is indeed considerably lower than the initially assumed 15% in selected familial cases.2 However, even a percentage of maybe 1% would imply that each larger dystonia center (>100 patients) would statistically deal with at least 1 GNAL mutation carrier. This is specifically relevant because GNAL is the first known genetic cause of adult-onset dystonia.

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August 1, 2014
Roberto Erro, MD; Kailash P. Bhatia, MD, FRCP; John Hardy, MD
1Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology, London, England2Dipartimento di Scienze Neurologiche e del Movimento, Università di Verona, Verona, Italy
1Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology, London, England
3Department of Molecular Neuroscience, University College London Institute of Neurology, Queen Square, London, England4Reta Lila Weston Institute, University College London Institute of Neurology, London, England
JAMA Neurol. 2014;71(8):1052-1053. doi:10.1001/jamaneurol.2014.1506.
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