Solveig Montaut1, Emmanuelle Apartis2, Jean-Baptiste Chanson3, Claire Ewenczyk4, Mathilde Renaud5, Claire Guissart6, Jean Muller7, André Pierre Legrand8, Alexandra Durr9, Vincent Laugel10, Michel Koenig6, Christine Tranchant11, Mathieu Anheim12. 1. Département de Neurologie, Hôpital de Hautepierre, CHU de Strasbourg, Strasbourg, France; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch, France. 2. AP-HP, Unité de Neurophysiologie, Hôpital Saint-Antoine, Paris, France; Institut du Cerveau et de la Moelle Epinière, Sorbonne Universités, Université Pierre et Marie Curie, University Paris 06, Unité Mixte de Recherche (UMR) 1127, Institut National de la Santé et de la Recherche Médicale (INSERM) Unité 1127, Centre National de la Recherche Scientifique UMR 7225, Groupe Hospitalier Pitié-Salpêtrière Charles-Foix, Paris, France. 3. Département de Neurologie, Hôpital de Hautepierre, CHU de Strasbourg, Strasbourg, France; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France. 4. Département de Génétique et Cytogénétique, Assistance Publique-Hôpitaux de Paris, Groupe Hospitalier Pitié-Salpêtrière Charles-Foix, Paris, France. 5. Département de Neurologie, Hôpital de Hautepierre, CHU de Strasbourg, Strasbourg, France. 6. INSERM U827, Institut Universitaire de la Recherche Clinique, 640 avenue du doyen Gaston Giraud, 34093 Montpellier cedex 5, France; Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire (CHU) Montpellier, France. 7. Laboratoire de Génétique Médicale, Institut de Génétique Médicale d'Alsace, INSERM U1112, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France; Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France. 8. ESPCI ParisTech, PSL Research University, Paris, France. 9. Institut du Cerveau et de la Moelle Epinière, Sorbonne Universités, Université Pierre et Marie Curie, University Paris 06, Unité Mixte de Recherche (UMR) 1127, Institut National de la Santé et de la Recherche Médicale (INSERM) Unité 1127, Centre National de la Recherche Scientifique UMR 7225, Groupe Hospitalier Pitié-Salpêtrière Charles-Foix, Paris, France; Département de Génétique et Cytogénétique, Assistance Publique-Hôpitaux de Paris, Groupe Hospitalier Pitié-Salpêtrière Charles-Foix, Paris, France. 10. Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France; Département de Neuropédiatrie, Hôpital de Hautepierre, CHU de Strasbourg, Strasbourg, France. 11. Département de Neurologie, Hôpital de Hautepierre, CHU de Strasbourg, Strasbourg, France; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch, France; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France. 12. Département de Neurologie, Hôpital de Hautepierre, CHU de Strasbourg, Strasbourg, France; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch, France; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France. Electronic address: mathieu.anheim@chru-strasbourg.fr.
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.
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.
Authors: Swati Khare; Kira Galeano; Yalan Zhang; Jerelyn A Nick; Harry S Nick; S H Subramony; Jacinda Sampson; Leonard K Kaczmarek; Michael F Waters Journal: Cerebellum Date: 2018-10 Impact factor: 3.847