Spinocerebellar ataxias (SCAs) caused by common mutations.
Ca2+ homeostasis
Common mutations
Disease mechanisms
Spinocerebellar ataxias
Journal
Neurogenetics
ISSN: 1364-6753
Titre abrégé: Neurogenetics
Pays: United States
ID NLM: 9709714
Informations de publication
Date de publication:
10 2021
10 2021
Historique:
received:
09
06
2021
accepted:
21
06
2021
pubmed:
18
8
2021
medline:
4
2
2022
entrez:
17
8
2021
Statut:
ppublish
Résumé
The term SCA refers to a phenotypically and genetically heterogeneous group of autosomal dominant spinocerebellar ataxias. Phenotypically they present as gait ataxia frequently in combination with dysarthria and oculomotor problems. Additional signs and symptoms are common and can include various pyramidal and extrapyramidal signs and intellectual impairment. Genetic causes of SCAs are either repeat expansions within disease genes or common mutations (point mutations, deletions, insertions etc.). Frequently the two types of mutations cause indistinguishable phenotypes (locus heterogeneity). This article focuses on SCAs caused by common mutations. It describes phenotype and genotype of the presently 27 types known and discusses the molecular pathogenesis in those 21 types where the disease gene has been identified. Apart from the dominant types, the article also summarizes findings in a variant caused by mutations in a mitochondrial gene. Possible common disease mechanisms are considered based on findings in the various SCAs described.
Identifiants
pubmed: 34401960
doi: 10.1007/s10048-021-00662-5
pii: 10.1007/s10048-021-00662-5
pmc: PMC8426233
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
235-250Informations de copyright
© 2021. The Author(s).
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