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Brucellosis causing subacute motor polyradiculopathy and the pathological correlation of pseudomyopathic electromyography: A case report.
Clin Neurophysiol Pract
June 2020
Neuromuscular Unit, King Fahad Medical Research Center, King Abdulaziz University, Jeddah, Saudi Arabia.
Introduction: Brucellosis is a rare cause of polyradiculopathy. We aim to present a case of subacute motor polyradiculopathy (SAMPR), along with the electromyographic pseudomyopathic changes, and their histopathological correlation.
Case Presentation: A 24-year-old man presented with gradually progressive bilateral lower limb weakness for three weeks that progressed to a loss of ambulation in seven weeks.
Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.
Brain
February 2015
2 Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, New South Wales, 2145, Australia 3 Discipline of Paediatrics and Child Health, Faculty of Medicine, The University of Sydney, Sydney, New South Wales, 2006, Australia 24 Murdoch Children's Research Institute. The Royal Children's Hospital, Parkville Victoria 3052 Australia 25 Department of Paediatrics, University of Melbourne Parkville Victoria 3010 Australia.
Spinal muscular atrophy is a disorder of lower motor neurons, most commonly caused by recessive mutations in SMN1 on chromosome 5q. Cases without SMN1 mutations are subclassified according to phenotype. Spinal muscular atrophy, lower extremity-predominant, is characterized by lower limb muscle weakness and wasting, associated with reduced numbers of lumbar motor neurons and is caused by mutations in DYNC1H1, which encodes a microtubule motor protein in the dynein-dynactin complex and one of its cargo adaptors, BICD2.
View Article and Find Full Text PDFPseudomyopathic changes in needle electromyography in lambert-eaton myasthenic syndrome.
Case Rep Neurol Med
August 2013
Department of Neurology, Tokyo Metropolitan Neurological Hospital, 2-6-1 Musashidai, Fuchu, Tokyo 183-0042, Japan ; Department of Neurology, The Jikei University School of Medicine, Japan.
Lambert-Eaton myasthenic syndrome (LEMS) is a rare presynaptic disorder of the neuromuscular junction in association with cancer and subsequently in cases in which no neoplasm has been detected (O'Neill et al., 1988). The diagnosis of LEMS is based on the combination of fluctuating muscle weakness, diminished or absent reflexes, and a more than 60% increment of compound muscle action potential (CMAP) amplitude after brief exercise or 50 Hz stimulation for 1 s in a repetitive nerve stimulation (RNS) test (Oh et al.
View Article and Find Full Text PDFGPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex.
Brain
November 2010
Service de Neurologie pédiatrique, Assistance Publique-Hôpitaux de Paris (AP-HP), hôpital Necker, Paris, France.
GPR56 mutations cause an autosomal recessive polymicrogyria syndrome that has distinctive radiological features combining bilateral frontoparietal polymicrogyria, white matter abnormalities and cerebellar hypoplasia. Recent investigations of a GPR56 knockout mouse model suggest that bilateral bifrontoparietal polymicrogyria shares some features of the cobblestone brain malformation and demonstrate that loss of GPR56 leads to a dysregulation of the maintenance of the pial basement membrane integrity in the forebrain and the rostral cerebellum. In light of these findings and other data in the literature, this study aimed to refine the clinical features with the first description of a foetopathological case and to define the range of cobblestone-like features in GPR56 bilateral bifrontoparietal polymicrogyria in a sample of 14 patients.
View Article and Find Full Text PDFFamilial ALS with SOD1 mutation misdiagnosed with polyradiculopathy and myopathy.
Amyotroph Lateral Scler
February 2010
Neuromuscular Center, Neurological Institute, Cleveland Clinic, 9500 Euclid Avenue/S90, Cleveland, OH 44195, USA.
We report a 54-year-old male with progressive and asymmetrical lower extremity weakness caused by familial amyotrophic lateral sclerosis (FALS) with a Cu/Zn superoxidase dismutase 1 (SOD1) gene mutation. He was initially misdiagnosed with a lumbosacral polyradiculopathy because of spinal stenosis and underwent a laminectomy surgery with no benefit. He was also misdiagnosed with a myopathy due to moderate CK elevation from acute denervation and pseudomyopathic changes on muscle biopsies from chronic denervation.
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