Distinct features in adult polyglucosan body disease: a case series

Jonathan De Winter; Gert Cypers; Edwin Jacobs; Stephanie Vanden Bossche; Tine Deconinck; Willem De Ridder; Sven Dekeyzer; Jonathan Baets

doi:10.1016/j.nmd.2022.12.016

Distinct features in adult polyglucosan body disease: a case series

Neuromuscul Disord. 2023 Feb;33(2):148-152. doi: 10.1016/j.nmd.2022.12.016. Epub 2022 Dec 31.

Authors

Jonathan De Winter¹, Gert Cypers², Edwin Jacobs³, Stephanie Vanden Bossche⁴, Tine Deconinck⁵, Willem De Ridder¹, Sven Dekeyzer⁶, Jonathan Baets⁷

Affiliations

¹ 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.
² Memory Clinic, Department of Neurology, Onze-Lieve-Vrouwziekenhuis, Aalst, Belgium.
³ Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands.
⁴ Department of Radiology, Antwerp University Hospital, Antwerp, Belgium; Department of Radiology, AZ Sint-Jan, Bruges, Belgium.
⁵ Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
⁶ Department of Radiology, Antwerp University Hospital, Antwerp, Belgium; Department of Radiology and Medical Imaging, Ghent University Hospital (UZG), Corneel Heymanslaan 10, Gent 9000, Belgium.
⁷ 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.

PMID: 36628840
DOI: 10.1016/j.nmd.2022.12.016

Abstract

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.

Keywords: Adult polyglucosan body disease; GBE activity assay; GBE1; Myopathy; Radiological features.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Central Nervous System
Glycogen Storage Disease* / diagnosis
Glycogen Storage Disease* / genetics
Glycogen Storage Disease* / pathology
Humans
Middle Aged
Muscle, Skeletal / pathology
Nervous System Diseases* / diagnostic imaging
Nervous System Diseases* / genetics

Supplementary concepts

Polyglucosan Body Disease, Adult Form