Results 141 to 150 of about 62,774 (200)

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
openaire   +2 more sources

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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Estimating the Prevalence of the Adult Polyglucosan Body Disease at the Gene Level for Ashkenazi Jews in the United States

, 2020
Lawrence Schwartz1*, Qing Lu2, Rongzi Liu3, Ruth Kornreich4, Lisa Edelman4, Ashley H Birch4, Alex Lossos5, Or Kahklon5 and Orhan H Akman6 1Econometrician, Volunteer Statistician, Adult Polyglucosan Body Disease Research Foundation, New York 2Department ...
Lawrence R Schwartz, Qing Lu, Rongzi Liu, R. Kornreich, L. Edelman, A. Birch, A. Lossos, Or Kahklon, Orhan H. Akman   +8 more
semanticscholar   +1 more source

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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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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Triheptanoin Supplementation Does not Affect Nutritional Status: A Case Report of Two Siblings With Adult Polyglucosan Body Disease

Journal of the American College of Nutrition, 2019
Objective: An anaplerotic diet with the odd-chain triglyceride (triheptanoin-C7TG) supplementation was tested as a therapy for Adult Polyglucosan Body Disease (APBD) and is currently being assessed for various metabolic disorders.
Ramona Silvana De Amicis, A. Leone, Stefano Ravasenghi, G. Scigliuolo, E. Mauro, E. Salsano, A. Battezzati, S. Bertoli   +7 more
semanticscholar   +1 more source

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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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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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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