Spinocerebellar ataxia: an update.
Molecular diagnosis
Next-generation sequencing
Spinocerebellar ataxia
Journal
Journal of neurology
ISSN: 1432-1459
Titre abrégé: J Neurol
Pays: Germany
ID NLM: 0423161
Informations de publication
Date de publication:
Feb 2019
Feb 2019
Historique:
received:
27
07
2018
accepted:
25
09
2018
revised:
21
09
2018
pubmed:
5
10
2018
medline:
29
5
2019
entrez:
5
10
2018
Statut:
ppublish
Résumé
Spinocerebellar ataxia (SCA) is a heterogeneous group of neurodegenerative ataxic disorders with autosomal dominant inheritance. We aim to provide an update on the recent clinical and scientific progresses in SCA where numerous novel genes have been identified with next-generation sequencing techniques. The main disease mechanisms of these SCAs include toxic RNA gain-of-function, mitochondrial dysfunction, channelopathies, autophagy and transcription dysregulation. Recent studies have also demonstrated the importance of DNA repair pathways in modifying SCA with CAG expansions. In addition, we summarise the latest technological advances in detecting known and novel repeat expansion in SCA. Finally, we discuss the roles of antisense oligonucleotides and RNA-based therapy as potential treatments.
Identifiants
pubmed: 30284037
doi: 10.1007/s00415-018-9076-4
pii: 10.1007/s00415-018-9076-4
pmc: PMC6373366
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
533-544Subventions
Organisme : Rosetrees Trust
ID : 516457
Organisme : Medical Research Council
ID : 54313
Pays : United Kingdom
Organisme : Ataxia UK
ID : 516457
Organisme : Brain Research Trust
ID : 540051
Organisme : Medical Research Council
ID : MR/S01165X/1
Pays : United Kingdom
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