Distinct features in adult polyglucosan body disease: a case series.
Adult polyglucosan body disease
GBE activity assay
GBE1
Myopathy
Radiological features
Journal
Neuromuscular disorders : NMD
ISSN: 1873-2364
Titre abrégé: Neuromuscul Disord
Pays: England
ID NLM: 9111470
Informations de publication
Date de publication:
02 2023
02 2023
Historique:
received:
02
09
2022
revised:
14
12
2022
accepted:
30
12
2022
pubmed:
12
1
2023
medline:
15
2
2023
entrez:
11
1
2023
Statut:
ppublish
Résumé
Adult polyglucosan body disease (APBD) is caused by bi-allelic pathogenic variants in GBE1 and typically shows middle age onset urinary symptoms followed by progressive gait disturbances and possibly cognitive decline. Here we present a Belgian cohort of four patients from three families showing both classical and atypical signs of APBD. By clinical phenotyping, detailed neuroimaging of both central nervous system and skeletal muscle, genetic and biochemical testing, we confront our findings with the classical presentation of adult polyglucosan body disease and emphasize the importance of a multidisciplinary approach when diagnosing these patients.
Identifiants
pubmed: 36628840
pii: S0960-8966(22)00753-2
doi: 10.1016/j.nmd.2022.12.016
pii:
doi:
Types de publication
Case Reports
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
148-152Commentaires et corrections
Type : CommentIn
Informations de copyright
Copyright © 2022. Published by Elsevier B.V.
Déclaration de conflit d'intérêts
Declaration of Competing Interest None.