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

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

^*Corresponding author for this work

Clinical Genetics

Research output: Contribution to journal › Article › Academic › peer-review

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.

Original language	English
Pages (from-to)	148-152
Number of pages	5
Journal	Neuromuscular Disorders
Volume	33
Issue number	2
DOIs	https://doi.org/10.1016/j.nmd.2022.12.016
Publication status	Published - Feb 2023

Bibliographical note

Funding Information:
This work was supported by Goldwasser-Emsens fellowship. J.B. is supported by a Senior Clinical Researcher mandate of the Research Fund - Flanders (FWO) under grant agreement N°1805021N. Solve-RD from the Horizon 2020 Research and Innovation Programme. Several authors of this publication are member of the European Reference Network for Rare Neuromuscular Diseases (ERN EURO-NMD)

Publisher Copyright: © 2022

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10.1016/j.nmd.2022.12.016

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title = "Distinct features in adult polyglucosan body disease: a case series",

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.",

author = "{De Winter}, Jonathan and Gert Cypers and Edwin Jacobs and Bossche, {Stephanie Vanden} and Tine Deconinck and {De Ridder}, Willem and Sven Dekeyzer and Jonathan Baets",

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AU - Bossche, Stephanie Vanden

AU - Deconinck, Tine

AU - De Ridder, Willem

AU - Dekeyzer, Sven

AU - Baets, Jonathan

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AB - 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.

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Distinct features in adult polyglucosan body disease: a case series

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