Myoclonus and Dystonia as Recurrent Presenting Features in Patients with the SCA21-Associated
Dystonia
Myoclonus
Pro170Leu
SCA21
Spinocerebellar ataxia
TMEM240
Journal
Tremor and other hyperkinetic movements (New York, N.Y.)
ISSN: 2160-8288
Titre abrégé: Tremor Other Hyperkinet Mov (N Y)
Pays: England
ID NLM: 101569493
Informations de publication
Date de publication:
2024
2024
Historique:
received:
11
01
2024
accepted:
23
03
2024
medline:
15
4
2024
pubmed:
15
4
2024
entrez:
15
4
2024
Statut:
epublish
Résumé
Spinocerebellar ataxia 21 (SCA21) is a rare neurological disorder caused by heterozygous variants in We describe two newly identified families harboring the recurrent pathogenic Adding to prior preliminary observations, our series highlights the relevance of hyperkinetic movements as clinically meaningful features of SCA21.
Sections du résumé
Background
UNASSIGNED
Spinocerebellar ataxia 21 (SCA21) is a rare neurological disorder caused by heterozygous variants in
Case Series
UNASSIGNED
We describe two newly identified families harboring the recurrent pathogenic
Discussion
UNASSIGNED
Adding to prior preliminary observations, our series highlights the relevance of hyperkinetic movements as clinically meaningful features of SCA21.
Identifiants
pubmed: 38617829
doi: 10.5334/tohm.858
pmc: PMC11012930
doi:
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
16Informations de copyright
Copyright: © 2024 The Author(s).
Déclaration de conflit d'intérêts
The authors have no competing interests to declare.