New Case of Spinocerebellar Ataxia, Autosomal Recessive 4, Due to
Leigh syndrome
VPS13D
mitochondrial dysfunction
spinocerebellar ataxia
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
08 May 2024
08 May 2024
Historique:
received:
05
04
2024
revised:
06
05
2024
accepted:
07
05
2024
medline:
25
5
2024
pubmed:
25
5
2024
entrez:
25
5
2024
Statut:
epublish
Résumé
Movement disorders such as bradykinesia, tremor, dystonia, chorea, and myoclonus most often arise in several neurodegenerative diseases with basal ganglia and white matter involvement. While the pathophysiology of these disorders remains incompletely understood, dysfunction of the basal ganglia and related brain regions is often implicated. The
Identifiants
pubmed: 38791166
pii: ijms25105127
doi: 10.3390/ijms25105127
pii:
doi:
Substances chimiques
VPS13D protein, human
0
Vesicular Transport Proteins
0
Proteins
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM