Diverse Phenotypic Presentation of the Welander Distal Myopathy Founder Mutation, With Myopathy and Amyotrophic Lateral Sclerosis in the Same Family.
Journal
Journal of clinical neuromuscular disease
ISSN: 1537-1611
Titre abrégé: J Clin Neuromuscul Dis
Pays: United States
ID NLM: 100887391
Informations de publication
Date de publication:
01 Sep 2024
01 Sep 2024
Historique:
medline:
20
8
2024
pubmed:
20
8
2024
entrez:
20
8
2024
Statut:
ppublish
Résumé
Welander distal myopathy is a rare myopathy with prominent and early involvement of distal upper extremity muscles, prevalent in individuals of Scandinavian origin, and caused by a founder mutation in the cytotoxic granule-associated RNA-binding protein (T-cell intracellular antigen-1; TIA1), E384K. Different pathogenic variants in the TIA1 gene, distinct from the founder 1, have recently been associated with frontotemporal dementia and amyotrophic lateral sclerosis (ALS), suggesting that TIA1-related disorders belong to the group of multisystem proteinopathies. We describe the first case of a two-generation family with the founder E384K TIA1 mutation demonstrating phenotypic variability; the mother manifested as Welander myopathy, whereas 2 daughters manifested as ALS. No other genetic cause of ALS was found in 1 of the affected daughters. We also discuss the possible mechanisms explaining this pleotropic presentation of the founder mutation.
Identifiants
pubmed: 39163160
doi: 10.1097/CND.0000000000000501
pii: 00131402-202409000-00005
doi:
Substances chimiques
T-Cell Intracellular Antigen-1
0
TIA1 protein, human
0
Types de publication
Journal Article
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
42-46Informations de copyright
Copyright © 2024 Wolters Kluwer Health, Inc. All rights reserved.
Déclaration de conflit d'intérêts
The authors report no conflicts of interest.
Références
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