Results 131 to 140 of about 9,468,531 (154)

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
openaire   +2 more sources

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

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

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
openaire   +2 more sources

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: 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
openaire   +2 more sources

A novel GBE1 mutation and features of polyglucosan bodies autophagy in Adult Polyglucosan Body Disease. A novel GBE1 mutation and features of polyglucosan bodies autophagy in Adult Polyglucosan Body Disease

2014
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
openaire   +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

Adult polyglucosan body disease presenting as a unilateral progressive plexopathy.

Muscle & nerve, 2017
Adult polyglucosan body disease (APBD) usually presents with progressive spastic paraparesis, neurogenic bladder, and distal lower limb sensory abnormalities. It is caused by mutations in the glycogen branching enzyme gene (GBE1).We describe a woman with an unusual phenotype manifesting as progressive left brachial more than lumbosacral plexopathies ...
Elie, Naddaf, Charles D, Kassardjian, Yasemin Gulcan, Kurt, Hasan Orhan, Akman, Anthony J, Windebank   +4 more
openaire   +1 more source