Distinct features in adult polyglucosan body disease: a case series.

Autor: De Winter J; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, Antwerp, Belgium., Cypers G; Memory Clinic, Department of Neurology, Onze-Lieve-Vrouwziekenhuis, Aalst, Belgium., Jacobs E; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands., Bossche SV; Department of Radiology, Antwerp University Hospital, Antwerp, Belgium; Department of Radiology, AZ Sint-Jan, Bruges, Belgium., Deconinck T; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., De Ridder W; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, Antwerp, Belgium., Dekeyzer S; Department of Radiology, Antwerp University Hospital, Antwerp, Belgium; Department of Radiology and Medical Imaging, Ghent University Hospital (UZG), Corneel Heymanslaan 10, Gent 9000, Belgium., Baets J; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, Antwerp, Belgium. Electronic address: Jonathan.Baets@uantwerpen.be.
Jazyk: angličtina
Zdroj: Neuromuscular disorders : NMD [Neuromuscul Disord] 2023 Feb; Vol. 33 (2), pp. 148-152. Date of Electronic Publication: 2022 Dec 31.
DOI: 10.1016/j.nmd.2022.12.016
Abstrakt: 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.
Competing Interests: Declaration of Competing Interest None.
(Copyright © 2022. Published by Elsevier B.V.)
Databáze: MEDLINE
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