Results 121 to 130 of about 9,468,531 (154)

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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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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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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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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Adult polyglucosan body disease – Management and evolution in an intensive rehabilitation program

Rehabilitación, 2021
Adult polyglucosan body disease is a rare neuromuscular genetic disorder. It is characterized by accumulation of an abnormal structural form of glycogen, particularly in central and peripheral nervous system and muscles. Functional impairments and the rehabilitation approach of this entity is rarely reported.
I, Carneiro, M, Rodrigues, A João, Costa, R, Cadilha, A, Lima   +4 more
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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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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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