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.
Memory Clinic, Department of Neurology, Onze-Lieve-Vrouwziekenhuis, Aalst, Belgium.
Neuromuscul Disord. 2023 Feb;33(2):148-152. doi: 10.1016/j.nmd.2022.12.016. Epub 2022 Dec 31.
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.
成人多形体包涵体病（APBD）由 GBE1 中的双等位致病性变异引起，通常表现为中年起病的尿症状，随后出现进行性步态障碍，可能伴有认知能力下降。本研究报道了来自三个比利时家族的四名患者，他们均表现出典型和非典型的 APBD 征象。通过临床表型分析、中枢神经系统和骨骼肌的详细神经影像学检查、基因和生化检测，我们将研究结果与成人多形体包涵体病的典型表现进行了对比，并强调了对这些患者进行多学科诊断的重要性。
