Results 141 to 150 of about 884 (171)

Stable neuropsychological deficits in adult polyglucosan body disease

Journal of Clinical Neuroscience, 2007
We describe a 61-year-old woman who gradually developed deficits of balance, gait, and the ability to negotiate movement in space, together with an unusual pattern of cognitive deficits. A series of non-invasive investigations over three years including EEG, CT, MRI, PET and serial neuropsychological review had not provided a diagnosis.
Greg, Savage, Fiona, Ray, Michael, Halmagyi, Angela, Blazely, Clive, Harper   +4 more
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A novel GBE1 mutation and features of polyglucosan bodies autophagy in Adult Polyglucosan Body Disease

Neuromuscular Disorders, 2015
We report the clinical, neuro-imaging, pathological and biochemical features of an Italian family in which two siblings have the Adult Polyglucosan Body Disease (APBD). APBD is a rare autosomal recessive disorder characterized by a gradually progressive involvement of both the central and peripheral nervous systems caused by the deficiency of the ...
SAMPAOLO, Simone, Esposito T, Gianfrancesco F, Napolitano F, Lombardi L, Lucà R, Roperto F, DI IORIO, Giuseppe   +7 more
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Dementia of Adult Polyglucosan Body Disease

Archives of Neurology, 1994
To characterize the dementia associated with adult polyglucosan body disease (APBD) and to correlate the cognitive deficits with abnormalities found on magnetic resonance imaging (MRI).Quantitative neuropsychological testing and MRI in one man with APBD and a review of the literature.The dementia of APBD affects cortical and subcortical functions.
Z, Rifai, M, Klitzke, R, Tawil, A M, Kazee, S, Shanske, S, DiMauro, R C, Griggs   +6 more
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Acute but transient neurological deterioration revealing adult polyglucosan body disease

Journal of the Neurological Sciences, 2013
Adult polyglucosan body disease (APBD) is a metabolic disorder usually caused by glycogen branching enzyme (GBE) deficiency. APBD associates progressive walking difficulties, bladder dysfunction and, in about 50% of the cases, cognitive decline. APBD is characterized by a recognizable leukodystrophy on brain MRI.
Ségolène, Billot, Dominique, Hervé, Hasan O, Akman, Roseline, Froissart, Christiane, Baussan, Kristl G, Claeys, Monique, Piraud, Frédéric, Sedel, Fanny, Mochel, Pascal, Laforêt   +9 more
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Adult polyglucosan body disease: ultrarare but commonly misdiagnosed

Practical Neurology
Adult polyglucosan body disease is a rare genetic condition caused by biallelic pathogenic variants in GBE-1 gene. Affected patients typically have urinary dysfunction, progressive gait disturbance and cognitive impairment. We report a 63-year-old woman with urinary incontinence, walking difficulty and episodes of forgetfulness.
Francisco Caiza-Zambrano, Mayra Aldecoa, Carlos Rugilo, Ana Lia Taratuto, Cintia Marchesoni, Luciana León-Cejas, Ricardo Reisin, Pablo Bonardo   +7 more
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Adult polyglucosan body disease: The diagnostic value of axilla skin biopsy

Annals of Neurology, 1991
AbstractThe diagnostic value of axilla skin biopsy has been investigated in a patient with adult polyglucosan body disease. The biopsy data have been compared with those of control subjects and with those from previously reported patients with Lafora's disease.
H L, Busard, A A, Gabreëls-Festen, W O, Renier, F J, Gabreëls, E M, Joosten, M A, van 't Hof, J B, Rensing   +6 more
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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
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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.
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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
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Polyglucosan bodies in intramuscular nerve branches are a poor predictor of GBE1 mutation and adult polyglucosan body disease

Muscle & Nerve, 2016
ABSTRACTIntroduction: Adult polyglucosan body disease (APBD) is associated with formation of polyglucosan bodies in peripheral nerve branches. Some muscle biopsies show these inclusions in intramuscular nerve branches. It has not been established whether the presence of multiple polyglucosan bodies in intramuscular peripheral nerve branches could or ...
Larissa V, Furtado, Sabah, Kadri, Michelle N, Wurst, Bradley C, Long, Jeremy P, Segal, Peter, Pytel   +5 more
openaire   +2 more sources