Results 131 to 140 of about 884 (171)

Glycogen branching enzyme deficiency in adult polyglucosan body disease

Annals of Neurology, 1993
AbstractBranching enzyme activity was assayed in muscle, peripheral nerve, and leukocytes from 2 Ashkenazi‐Jewish patients with adult polyglucosan body disease and 1 African‐American and 3 Caucasian patients with the same clinical and pathological features.
Bruno C., Servidei S., Shanske S., Karpati G., Carpenter S., McKee D., Barohn R. J., Hirano M., Rifai Z., Dimauro S.   +9 more
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Adult polyglucosan body disease in a patient originally diagnosed with Fabry’s disease

Neuromuscular Disorders, 2014
Adult polyglucosan body disease is a rare autosomal recessive disease, caused by glycogen branching enzyme gene mutations, characterised by urinary dysfunction, spastic paraplegia with vibration sense loss, peripheral neuropathy, and cognitive impairment.
Sagnelli, A, Savoiardo, M, Marchesi, C, Morandi, L, Mora, M, Morbin, M, Farina, L, MAZZEO, Anna, TOSCANO, Antonio, Pagliarani, S, Lucchiari, S, Comi, GP, Salsano, E, Pareyson, D.   +13 more
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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
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Case 318: Adult Polyglucosan Body Disease

Radiology, 2023
A 72-year-old man sought care for a cognitive deterioration over the past 5 years. There was a documented decline in his performance on the Mini-Mental State Examination (30 of 30 in 2016, 23 of 30 in 2021), with mainly episodic memory impairment. A more detailed history revealed a gait problem, paresthesia in both feet, and nocturnal urinary frequency.
Eline Van den Borre, Gert Cypers, Piet Vanhoenacker, Sven Dekeyzer   +3 more
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Adult Polyglucosan Body Disease (APBD)

Journal of Neuropathology and Experimental Neurology, 1988
Three patients aged 63, 63 and 74 years had various combinations of progressive lower and upper motor neuron dysfunction, sensory loss, urinary incontinence and dementia. Postmortem examinations in two cases showed moderate cerebral and spinal atrophy, ill-defined areas of incomplete myelin loss in white matter and small necrotic foci in the white ...
F, Gray, R, Gherardi, A, Marshall, I, Janota, J, Poirier   +4 more
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Adult polyglucosan body disease

Neurology, 2003
Autopsy of a 50-year-old woman with adult polyglucosan body disease and missense mutations (Arg515His, Arg524Gln) in the glycogen branching enzyme gene (GBE) revealed accumulation of polyglucosan bodies in the heart, brain, and nerve. GBE activity was decreased in the morphologically affected tissues but was normal in unaffected tissues.
E, Sindern, F, Ziemssen, T, Ziemssen, T, Podskarbi, Y, Shin, F, Brasch, K M, Müller, J M, Schröder, J-P, Malin, M, Vorgerd   +9 more
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Frequent misdiagnosis of adult polyglucosan body disease

Journal of Neurology, 2015
Adult polyglucosan body disease (APBD) is a rare glycogenosis manifesting progressive spastic paraparesis, sensorimotor polyneuropathy and neurogenic bladder. Misdiagnosis of APBD may lead to unnecessary investigations and to potentially harmful therapeutic interventions. To examine the frequency of misdiagnosis of APBD, we retrospectively reviewed the
Mark A, Hellmann, Or, Kakhlon, Ezekiel H, Landau, Menachem, Sadeh, Nir, Giladi, Ilana, Schlesinger, Daphne, Kidron, Oded, Abramsky, Avinoam, Reches, Zohar, Argov, Jose M, Rabey, Joab, Chapman, Hanna, Rosenmann, Aya, Gal, J, Moshe Gomori, Vardiella, Meiner, Alexander, Lossos   +16 more
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A type of adult polyglucosan body disease

Acta Neuropathologica, 1982
Polyglucosan bodies in the nervous system and other viscera are the main findings at autopsy of a 64-year-old woman who had a chronic neurologic disorder of 20 years' duration. The clinical features included muscle weakness, sensory disturbances, neurogenic bladder, dementia, and cataracts.
K, Okamoto, J F, Llena, A, Hirano
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Adult polyglucosan body disease presenting as a unilateral progressive plexopathy

Muscle & Nerve, 2016
Elie Naddaf, Charles D. Kassardjian, Yasemin Gulcan Kurt, Hasan Orhan Akman, Anthony J. Windebank   +4 more
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Spinal Cord MRI in Adult Polyglucosan Body Disease

Journal of Computer Assisted Tomography, 1992
MRI appearance of adult polyglucosan body disease is described. A 67-year-old man presenting with a chronic progressive degenerative neurologic disorder was found to have marked atrophy of the entire cord, without signal abnormalities on long TR images. Autopsy revealed atrophy of the cord, diffuse gliosis, and numerous corpora amylacea.
C, Negishi, G, Sze
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