Adult onset familiar dystonia-plus syndrome: A novel presentation of IRF2BPL-associated neurodegeneration.
Journal
Parkinsonism & related disorders
ISSN: 1873-5126
Titre abrégé: Parkinsonism Relat Disord
Pays: England
ID NLM: 9513583
Informations de publication
Date de publication:
01 2022
01 2022
Historique:
received:
23
06
2021
revised:
23
10
2021
accepted:
31
10
2021
pubmed:
6
12
2021
medline:
19
4
2022
entrez:
5
12
2021
Statut:
ppublish
Résumé
Pathogenic variants of the IRF2BPL gene have been mostly associated with early onset epileptic encephalopathy. Movement disorders such as dystonia and ataxia were also reported, with symptoms mainly developing between childhood and adolescence. Here we describe a family with several members affected by a late onset dystonic and ataxic progressive syndrome, caused by a novel heterozygous pathogenic variant in the IRF2BPL gene.
Identifiants
pubmed: 34864472
pii: S1353-8020(21)00396-5
doi: 10.1016/j.parkreldis.2021.10.033
pii:
doi:
Substances chimiques
Carrier Proteins
0
IRF2BPL protein, human
0
Nuclear Proteins
0
Types de publication
Case Reports
Letter
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
22-24Informations de copyright
Copyright © 2021 Elsevier Ltd. All rights reserved.