Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy.
ataxia
cerebellar atrophy
exome sequencing
gene panel
neuroimaging
rare disease
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:
16 Nov 2023
16 Nov 2023
Historique:
received:
14
09
2023
revised:
01
11
2023
accepted:
09
11
2023
medline:
27
11
2023
pubmed:
25
11
2023
entrez:
25
11
2023
Statut:
epublish
Résumé
Cerebellar atrophy (CA) is a frequent neuroimaging finding in paediatric neurology, usually associated with cerebellar ataxia. The list of genes involved in hereditary forms of CA is continuously growing and reveals its genetic complexity. We investigated ten cases with early-onset cerebellar involvement with and without ataxia by exome sequencing or by a targeted panel with 363 genes involved in ataxia or spastic paraplegia. Novel variants were investigated by
Identifiants
pubmed: 38003592
pii: ijms242216400
doi: 10.3390/ijms242216400
pmc: PMC10671053
pii:
doi:
Substances chimiques
TBCD protein, human
0
Microtubule-Associated Proteins
0
CLN6 protein, human
0
Membrane Proteins
0
SETX protein, human
EC 3.6.1.-
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Instituto de Salud Carlos III
ID : PI18/00147
Organisme : Instituto de Salud Carlos III
ID : PI21/00103
Organisme : Instituto de Salud Carlos III
ID : FI19/00072
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