Dystonic Tremor as Main Clinical Manifestation of SCA21
Dystonic tremor can represent the core clinical feature of SCA21, even in absence of overt cerebellar ataxia. Therefore, TMEM240 pathogenic variants should be considered disease-causing in subjects displaying dystonic tremor, variably associated with ataxia, parkinsonism, neurodevelopmental disorders, and cognitive impairment.
Authors
- Claudio Baiata (ORCID: https://orcid.org/0009-0008-6333-0679)
- Elena Moro (ORCID: https://orcid.org/0000-0002-7968-5908)
- Edoardo Monfrini (ORCID: https://orcid.org/0000-0003-4720-9234)
- Alessio Di Fonzo (ORCID: https://orcid.org/0000-0001-6478-026X)
- Gloria Brescia
- Vidal Yahya (ORCID: https://orcid.org/0000-0002-7781-653X)
- Sandrine Correia
Institutions
- University of Milan (IT)
- Centre Hospitalier Universitaire de Grenoble (FR)
- Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (IT)
- Ospedale Maggiore (IT)
- Grenoble Institute of Neurosciences (FR)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- Ferrari (Italy) (IT)
- University of Milano-Bicocca (IT)
- Université Grenoble Alpes (FR)
Publication Details
- Journal
- Movement Disorders Clinical Practice
- Published
- 2024-09-28
- DOI
- https://doi.org/10.1002/mdc3.14220
- Citations
- 1
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.27
Funders
- Ministero della Salute
- Fondazione Regionale per la Ricerca Biomedica