نتایج جستجو برای: amyotrophic lateral sclerosis

تعداد نتایج: 178098  

Journal: :Journal of neurology, neurosurgery, and psychiatry 1996
P J Massman J Sims N Cooke L J Haverkamp V Appel S H Appel

OBJECTIVE To determine the prevalence and correlates of neuropsychological impairment in a large cohort (n = 146) of patients with typical, sporadic (non-familial) amyotrophic lateral sclerosis. METHODS A battery of neuropsychological tests was administered to patients with amyotrophic lateral sclerosis who were attending a monthly outpatient clinic or who were in hospital undergoing diagnost...

2018
David Brenner Rüstem Yilmaz Kathrin Müller Torsten Grehl Susanne Petri Thomas Meyer Julian Grosskreutz Patrick Weydt Wolfgang Ruf Christoph Neuwirth Markus Weber Susana Pinto Kristl G Claeys Berthold Schrank Berit Jordan Antje Knehr Kornelia Günther Annemarie Hübers Daniel Zeller Christian Kubisch Sibylle Jablonka Michael Sendtner Thomas Klopstock Mamede de Carvalho Anne Sperfeld Guntram Borck Alexander E Volk Johannes Dorst Joachim Weis Markus Otto Joachim Schuster Kelly Del Tredici Heiko Braak Karin M Danzer Axel Freischmidt Thomas Meitinger Tim M Strom Albert C Ludolph Peter M Andersen Jochen H Weishaupt Ute Weyen Andreas Hermann Tim Hagenacker Jan Christoph Koch Paul Lingor Bettina Göricke Stephan Zierz Petra Baum Joachim Wolf Andrea Winkler Peter Young Ulrich Bogdahn Johannes Prudlo Jan Kassubek.

Heterozygous missense mutations in the N-terminal motor or coiled-coil domains of the kinesin family member 5A (KIF5A) gene cause monogenic spastic paraplegia (HSP10) and Charcot-Marie-Tooth disease type 2 (CMT2). Moreover, heterozygous de novo frame-shift mutations in the C-terminal domain of KIF5A are associated with neonatal intractable myoclonus, a neurodevelopmental syndrome. These finding...

Journal: :Journal of neurology, neurosurgery, and psychiatry 1988
J Szulc-Kuberska H Stepień A Klimek D Cieślak

Secretion of prolactin in nine patients with amyotrophic lateral sclerosis and in seven healthy men was investigated with the use of metoclopramide stimulation and bromocriptine inhibition tests. Blood serum prolactin concentration was determined in the basal state and 30, 60 and 120 minutes after oral administration of 10 mg metoclopramide or 2.5 mg bromocriptine. A period of 3 days intervened...

Journal: :Einstein 2012
Alexander Joseph Moszczynski Anu Tandon Fernando Morgadinho Santos Coelho Lorne Zinman Brian Murray

OBJECTIVE To describe the prevalence and severity of periodic limb movements during sleep in amyotrophic lateral sclerosis patients and to explore this fact as a predictor of severity of the condition with respect to mortality. METHODS In this case-control study, questionnaire and polysomnographic data were analyzed from 35 amyotrophic lateral sclerosis patients. Controls were matched by age,...

2017
Rui Almeida Ana Catarina Felix Ana Luísa André Hipólito Nzwalo

We report a case of progressive symmetric brachial weakness followed by cervical muscle weakness. The electromyogram confirmed the diagnosis of amyotrophic lateral sclerosis. After 3 years the patient remained able to walk unassisted and without significant bulbar manifestations or upper neuron signs. The concomitant presence of dropped head syndrome and man-in-barrel syndrome in an amyotrophic...

Journal: :Brain : a journal of neurology 2011
Nobue K Iwata Justin Y Kwan Laura E Danielian John A Butman Fernanda Tovar-Moll Elham Bayat Mary Kay Floeter

Primary lateral sclerosis is a sporadic disorder characterized by slowly progressive corticospinal dysfunction. Primary lateral sclerosis differs from amyotrophic lateral sclerosis by its lack of lower motor neuron signs and long survival. Few pathological studies have been carried out on patients with primary lateral sclerosis, and the relationship between primary lateral sclerosis and amyotro...

Journal: :Journal of neurology, neurosurgery, and psychiatry 1995
O Bandmann M B Davis C D Marsden A E Harding

Mutations in the superoxide dismutase 1 (SOD1) gene have been detected in affected members of some families with familial amyotrophic lateral sclerosis. To evaluate the possibility of a shared genetic defect in amyotrophic lateral sclerosis and Parkinson's disease, the SOD1 gene was sequenced in index patients with familial Parkinson's disease from 23 families. No changes were detected.

Journal: :Brain : a journal of neurology 2013
Gaëlle Bruneteau Thomas Simonet Stéphanie Bauché Nathalie Mandjee Edoardo Malfatti Emmanuelle Girard Marie-Laure Tanguy Anthony Behin Frédéric Khiami Elhadi Sariali Caroline Hell-Remy François Salachas Pierre-François Pradat Emmanuel Fournier Lucette Lacomblez Jeanine Koenig Norma Beatriz Romero Bertrand Fontaine Vincent Meininger Laurent Schaeffer Daniel Hantaï

Amyotrophic lateral sclerosis is a typically rapidly progressive neurodegenerative disorder affecting motor neurons leading to progressive muscle paralysis and death, usually from respiratory failure, in 3-5 years. Some patients have slow disease progression and prolonged survival, but the underlying mechanisms remain poorly understood. Riluzole, the only approved treatment, only modestly prolo...

Journal: :Brain : a journal of neurology 2000
C Ertekin I Aydogdu N Yüceyar N Kiylioglu S Tarlaci B Uludag

We investigated the pathophysiological mechanisms of dysphagia in amyotrophic lateral sclerosis. Forty-three patients with sporadic amyotrophic lateral sclerosis were examined by clinical and electrophysiological methods that objectively measured the oropharyngeal phase of voluntarily initiated swallowing, and these results were compared with those obtained from 50 age-matched control subjects....

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