Clinical and neuroimaging review of triplet repeat diseases.
Computed tomography
Magnetic resonance imaging
Neurodegeneration
Triplet repeat disease
Journal
Japanese journal of radiology
ISSN: 1867-108X
Titre abrégé: Jpn J Radiol
Pays: Japan
ID NLM: 101490689
Informations de publication
Date de publication:
Feb 2023
Feb 2023
Historique:
received:
30
08
2022
accepted:
18
09
2022
pubmed:
29
9
2022
medline:
3
2
2023
entrez:
28
9
2022
Statut:
ppublish
Résumé
Triplet repeat diseases (TRDs) refer to a group of diseases caused by three nucleotide repeats elongated beyond a pathologic threshold. TRDs are divided into the following four groups depending on the pathomechanisms, although the pathomechanisms of several diseases remain unelucidated: polyglutamine disorders, caused by a pathologic repeat expansion of CAG (coding the amino acid glutamine) located within the exon; loss-of-function repeat disorders, characterized by the common feature of a loss of function of the gene within which they occur; RNA gain-of-function disorders, involving the production of a toxic RNA species; and polyalanine disorders, caused by a pathologic repeat expansion of GCN (coding the amino acid alanine) located within the exon. Many of these TRDs manifest through neurologic symptoms; moreover, neuroimaging, especially brain magnetic resonance imaging, plays a pivotal role in the detection of abnormalities, differentiation, and management of TRDs. In this article, we reviewed the clinical and neuroimaging features of TRDs. An early diagnosis of TRDs through clinical and imaging approaches is important and may contribute to appropriate medical intervention for patients and their families.
Identifiants
pubmed: 36169768
doi: 10.1007/s11604-022-01343-5
pii: 10.1007/s11604-022-01343-5
pmc: PMC9889482
doi:
Substances chimiques
RNA
63231-63-0
Amino Acids
0
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
115-130Informations de copyright
© 2022. The Author(s).
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