Results 151 to 160 of about 62,774 (200)

Extensive white-matter changes in case of adult polyglucosan body disease

Neuroradiology, 2001
Extensive white matter signal changes were observed on T2-weighted images of a 49-year-old man. He presented with a slowly progressive gait disorder, and finally developed severe dementia. Extensive metabolic and infectious investigations failed to disclose the underlying cause during life. Autopsy revealed adult polyglucosan body disease.
M, Berkhoff, J, Weis, G, Schroth, M, Sturzenegger   +3 more
openaire   +2 more sources

Dementia of frontal lobe type due to adult polyglucosan body disease

Journal of Neurology, 1995
We describe a patient with adult polyglucosan body disease (APBD) who presented with a dementia of frontal lobe type (FLD), with a neurogenic bladder but no symptoms of sensory motor peripheral neuropathy. Diagnosis was made from a cerebral biopsy specimen which showed an accumulation of intra-axonal polyglucosan bodies in the central nervous system ...
P, Boulan-Predseil, A, Vital, B, Brochet, D, Darriet, P, Henry, C, Vital   +5 more
openaire   +2 more sources

Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource.

Molecular Genetics and Metabolism, 2023
R. Koch, Claudia Soler-Alfonso, B. Kiely, A. Asai, Ariana L. Smith, Deeksha S. Bali, P. Kang, Andrew P Landstrom, H. Akman, T. Burrow, J. Orthmann-Murphy, Deberah Goldman, S. Pendyal, A. El-Gharbawy, S. Austin, L. Case, R. Schiffmann, M. Hirano, P. Kishnani   +18 more
semanticscholar   +1 more source

Adult polyglucosan body disease (APBD)

2004
Abstract The sural nerve specimen demonstrated frequent polyglucosan bodies in axons, and an axillary skin biopsy specimen showed them in the luminal cells of apocrine glands. Muscle biopsy showed diastase-resistant, periodic acid-Schiff (PAS)-positive material in a small population of muscle fibers.
openaire   +1 more source

Adult polyglucosan body disease: A case report of a manifesting heterozygote

Muscle & Nerve, 2005
AbstractA 62‐year‐old man developed progressive gait instability, bladder dysfunction, proximal weakness, distal sensory loss, and mild cognitive impairment over 6 years. Neurologic examination revealed upper and lower motor neuron dysfunction in the lower extremities, with distal sensory loss.
Eroboghene E, Ubogu, Stacey Tay Kiat, Hong, Hasan Orhan, Akman, Salvatore, Dimauro, Bashar, Katirji, David C, Preston, Barbara E, Shapiro   +6 more
openaire   +2 more sources

An exon trap with proper poly-A site in the GBE1 is the common missing cause in Adult Polyglucosan Body Disease (S42.006)

Neurology, 2015
OBJECTIVE: Identify the underlying genetic cause of glycogen branching enzyme (GBE) deficiency in manifesting heterozygous patients of adult polyglucosan body disease (APBD).
Orhan H. Akman, O. Kakhlon, Jorida Coku, L. Peverelli, H. Rosenmann, Lea Rozenstein-Tsalkovich, J. Turnbull, V. Meiner, L. Chama, I. Lerer, S. Shpitzen, E. Leitersdorf, C. P. López, M. Wallace, R. Schiffmann, S. Dimauro, A. Lossos, B. Minassian   +17 more
semanticscholar   +1 more source

Novel brain MRI clues to diagnose adult polyglucosan body disease - a commentary

Neuromuscular Disorders, 2023
F. Mochel
semanticscholar   +1 more source

Adult polyglucosan body disease—an atypical compound heterozygous with a novel GBE1 mutation

Neurological Sciences, 2021
Andreia Carvalho, J. Nunes, R. Taipa, M. Melo Pires, Jorge Pinto Basto, P. Barros   +5 more
semanticscholar   +1 more source

[Fatal cardiomyopathy in adult in polyglucosan body disease].

Der Pathologe, 2002
Adult polyglucosan body disease (APBD) is a rare genetic disorder, inherited in an autosomal recessive mode. The disease is caused by mutations of the gene coding for the glycogen-branching enzyme, which is essential for branching of polyglucose chains in the normal glycogen molecule.
E, Postler, E, Sindern, M, Vorgerd, I, Schmitz, J P, Malin, K M, Müller   +5 more
openaire   +1 more source

Familial dementia due to adult polyglucosan body disease.

Clinical neuropathology, 1997
Adult polyglucosan body disease (APBD) is a rare disorder, presenting with varying combinations and severity of upper and lower motor neuron dysfunction, sensory deficits, dementia, and urinary incontinence. Onset is in the 40s or 50s. The diagnosis is made by finding polyglucosan bodies (PB) in histologic sections of brain or spinal cord, peripheral ...
E H, Bigio, M F, Weiner, F J, Bonte, C L, White   +3 more
openaire   +1 more source