Polyglucosan body myopathy type 1 (PGBM1, OMIM #615895.) is a rare autosomal recessive disorder caused by RBCK1 mutations. The patients displayed polyglucosan accumulation in skeletal and cardiac muscles, giving rise to loss of ambulation and heart failure with or without immune system dysregulation. So far, only 24 patients have been reported, all of whom exhibited symptoms before adulthood. Here, we reported the first case of an adult-onset PGBM1 patient with a novel compound heterozygous RBCK1 gene mutation consisting of a nonsense and synonymous variant affecting splicing.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1111/cge.14350 | DOI Listing |
Handb Clin Neurol
September 2024
Neurology Department, University of Montpellier, Montpellier University Hospital, INSERM, Reference Center for Adult-Onset Leukoencephalopathies, Montpellier, France. Electronic address:
Inherited white matter disorders include a wide range of disorders of various origins with distinct genetic, pathophysiologic, and metabolic backgrounds. Although most of these diseases have nonspecific clinical and radiologic features, some display distinct clinical and/or imaging (magnetic resonance imaging, MRI) characteristics that might suggest the causative gene. Recent advances in genetic testing allow assessing gene panels that include several hundred genes; however, an MRI-based diagnostic approach is important to narrow the choice of candidate genes, particularly in countries where these techniques are not available.
View Article and Find Full Text PDFNeurotherapeutics
September 2024
Department of Biochemistry and Molecular Biology, College of Medicine, University of Florida, Gainesville, FL, USA; Center for Advanced Spatial Biomolecule Research (CASBR), University of Florida, Gainesville, FL, USA. Electronic address:
Polyglucosan bodies are accumulations of insoluble glucose polymers and proteins that form intracytoplasmic inclusions in the brain, large numbers of which can be indicative of neurodegenerative diseases such as Lafora disease. Montserrat orioles () are an icterid passerine endemic to Montserrat with conservation populations maintained in captivity abroad. We demonstrate that polyglucosan bodies are unusually abundant in the cerebellar molecular and Purkinje cell layers and cerebellar peduncles of captive-bred and wild-caught Montserrat orioles.
View Article and Find Full Text PDFJ Neuroophthalmol
August 2024
Departments of Neurology (AD, NJA, CP, SLG, SNG) and Ophthalmology (CP, SLG), New York University Grossman School of Medicine, New York, New York.
Background: Adult polyglucosan body disease (APBD) is caused by a deficiency in glycogen branching enzyme that leads to polyglucosan accumulation in multiple organs. It has a progressive clinical course with prominent neurologic manifestations. We aim to describe the neuro-ophthalmic manifestations of APBD.
View Article and Find Full Text PDFJ Neurol Sci
September 2024
Division of Neurogenetics, Department of Neurology, NYU Grossman School of Medicine, New York, NY, USA. Electronic address:
Adult polyglucosan body disease (APBD) is a rare autosomal recessive glycogen storage disorder that leads to slowly progressive multi-organ dysfunction in adulthood. A novel disease-specific patient-reported outcome measure was created and administered to assess symptom burden and health-related quality of life (HR-QOL) in APBD. Thirty-six participants between 30 and 79 years of age (83% ≥60 years, 56% male) completed the anonymous questionnaire independently or with a caregiver proxy (75% self-report).
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!