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Sorrentino, U. ; Romito, L.M.* ; Garavaglia, B.* ; Fichera, M.* ; Colangelo, I.* ; Prokisch, H. ; Winkelmann, J. ; Necpál, J.* ; Jech, R.* ; Zech, M.

Myoclonus and dystonia as recurrent presenting features in patients with the SCA21-associated TMEM240 p.Pro170Leu variant.

Tremor Other Hyperkinet. Mov. 14:16 (2024)
Publ. Version/Full Text DOI PMC
Open Access Gold
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BACKGROUND: Spinocerebellar ataxia 21 (SCA21) is a rare neurological disorder caused by heterozygous variants in TMEM240. A growing, yet still limited number of reports suggested that hyperkinetic movements should be considered a defining component of the disease. CASE SERIES: We describe two newly identified families harboring the recurrent pathogenic TMEM240 p.Pro170Leu variant. Both index patients and the mother of the first proband developed movement disorders, manifesting as myoclonic dystonia and action-induced dystonia without co-occurring ataxia in one case, and pancerebellar syndrome complicated by action-induced dystonia in the other. We reviewed the literature on TMEM240 variants linked to hyperkinetic disorders, comparing our cases to described phenotypes. DISCUSSION: Adding to prior preliminary observations, our series highlights the relevance of hyperkinetic movements as clinically meaningful features of SCA21. TMEM240 mutation should be included in the differential diagnosis of myoclonic dystonia and ataxia-dystonia syndromes.
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Publication type Article: Journal article
Document type Review
Corresponding Author
Keywords Dystonia ; Myoclonus ; Pro170leu ; Sca21 ; Spinocerebellar Ataxia ; Tmem240
ISSN (print) / ISBN 2160-8288
e-ISSN 2160-8288
Journal Tremor and other hyperkinetic movements
Quellenangaben Volume: 14, Issue: , Pages: , Article Number: 16 Supplement: ,
Publisher Center for Digital Research and Scholarship
Publishing Place New York, NY
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Neurogenomics (ING)
Grants
European Joint Programme on Rare Diseases
German Federal Ministry of Education and Research (BMBF, Bonn, Germany)
Federal Ministry of Education and Research (BMBF)
Free State of Bavaria under the Excellence Strategy of the Federal Government
Laender
Technical University of Munich - Institute for Advanced Study
Else Kroner-Fresenius-Stiftung
National Institute for Neurological Research, Czech Republic, Programme EXCELES
European Union - Next Generation EU
Charles University: Cooperation Program in Neuroscience
Italian Ministry of Health
Fondazione Mariani
German Research Foundation