The movement disorder spectrum of SCA21 (ATX-TMEM240): 3 novel families and systematic review of the literature-Reference-Cited by-同舟云学术

The movement disorder spectrum of SCA21 (ATX-TMEM240): 3 novel families and systematic review of the literature

Published:2019-05 Issue: Volume:62 Page:215-220
ISSN:1353-8020
Container-title:Parkinsonism & Related Disorders
language:en
Short-container-title:Parkinsonism & Related Disorders

Author:

Traschütz Andreas,van Gaalen Judith,Oosterloo Mayke,Vreeburg Maaike,Kamsteeg Erik-Jan,Deininger Natalie,Rieß Olaf,Reimold Matthias,Haack Tobias,Schöls Ludger,van de Warrenburg Bart P.,Synofzik Matthis

Funder

Bioblast Pharma

Actelion Pharmaceuticals

European Union’s Horizon 2020 research and innovation

BMBF

Else Kröner-Fresenius-Stiftung

ZonMw, Hersenstichting, and Radboud university medical centre

German Bundesministerium für Bildung und Forschung (BMBF)

Publisher

Elsevier BV

Subject

Neurology (clinical),Geriatrics and Gerontology,Neurology

Reference11 articles.

1. TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment;Delplanque;Brain,2014

2. Spinocerebellar ataxia type 21 exists in the Chinese Han population;Zeng;Sci. Rep.,2016

3. A Japanese Family of Spinocerebellar Ataxia Type 21: Clinical and Neuropathological Studies;Yahikozawa,2018

4. Resolution of disease phenotypes resulting from multilocus genomic variation;Posey;N. Engl. J. Med.,2017

5. A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3-p15.1;Vuillaume;Ann. Neurol.,2002

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1. Myoclonus and Dystonia as Recurrent Presenting Features in Patients with the SCA21-Associated TMEM240 p.Pro170Leu Variant;Tremor and Other Hyperkinetic Movements;2024

2. Tremor in Spinocerebellar Ataxia: A Scoping Review;Tremor and Other Hyperkinetic Movements;2024

4. Clinical gene therapy development for the central nervous system: Candidates and challenges for AAVs;Journal of Controlled Release;2023-05

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