SCA13 causes dominantly inherited non-progressive myoclonus ataxia

Abstract Introduction Spinocerebellar ataxia 13 (SCA13) is a rare autosomal dominant cerebellar ataxia. To our knowledge, its association to movement disorders has never been described. We aimed at reporting 8 new SCA13 cases with a focus on movement disorders especially myoclonus. Methods We perfor...

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Bibliographic Details
Published in:Parkinsonism & related disorders 2017-05, Vol.38, p.80-84
Main Authors: Montaut, Solveig, Apartis, Emmanuelle, Chanson, Jean-Baptiste, Ewenczyk, Claire, Renaud, Mathilde, Guissart, Claire, Muller, Jean, Legrand, André Pierre, Durr, Alexandra, Laugel, Vincent, Koenig, Michel, Tranchant, Christine, Anheim, Mathieu
Format: Article
Language:English
Subjects:
Adolescent
Adult
Ataxins - genetics
Brain - diagnostic imaging
Cerebellar ataxia
Electroencephalography
Electromyography
Family Health
Female
Human health and pathology
Humans
Life Sciences
Male
Middle Aged
Movement disorder
Mutation - genetics
Myoclonus
Myoclonus - etiology
Myoclonus - genetics
Neurogenetics
Neurologic Examination
Neurology
Neurons and Cognition
Spinocerebellar Ataxias - complications
Spinocerebellar Ataxias - congenital
Spinocerebellar Ataxias - genetics
Young Adult
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Summary:Abstract Introduction Spinocerebellar ataxia 13 (SCA13) is a rare autosomal dominant cerebellar ataxia. To our knowledge, its association to movement disorders has never been described. We aimed at reporting 8 new SCA13 cases with a focus on movement disorders especially myoclonus. Methods We performed a detailed neurological examination and neurophysiological recording in 8 patients consecutively diagnosed with SCA13 between December 2013 and October 2015 and followed up in two French tertiary centers. Results We identified mild subcortical myoclonus in all patients, with a homogenous clinical and electrophysiological pattern. Myoclonus ataxia was very slowly progressive, like the other symptoms of the disease, whatever the age of onset. Patients with R423H mutation had an earlier age of onset than patients with R420H mutation. Conclusions Myoclonus appears to be frequent in SCA13. SCA13 should be considered facing non-progressive autosomal dominant myoclonus ataxia, and polymyographic recording should be included in the diagnosis work.
ISSN:1353-8020
1873-5126
DOI:10.1016/j.parkreldis.2017.02.012