نتایج جستجو برای: motor neuron disorder

تعداد نتایج: 774054  

Journal: :American journal of human genetics 2013
Emily C Oates Alexander M Rossor Majid Hafezparast Michael Gonzalez Fiorella Speziani Daniel G MacArthur Monkol Lek Ellen Cottenie Mariacristina Scoto A Reghan Foley Matthew Hurles Henry Houlden Linda Greensmith Michaela Auer-Grumbach Thomas R Pieber Tim M Strom Rebecca Schule David N Herrmann Janet E Sowden Gyula Acsadi Manoj P Menezes Nigel F Clarke Stephan Züchner Francesco Muntoni Kathryn N North Mary M Reilly

Dominant congenital spinal muscular atrophy (DCSMA) is a disorder of developing anterior horn cells and shows lower-limb predominance and clinical overlap with hereditary spastic paraplegia (HSP), a lower-limb-predominant disorder of corticospinal motor neurons. We have identified four mutations in bicaudal D homolog 2 (Drosophila) (BICD2) in six kindreds affected by DCSMA, DCSMA with upper mot...

Journal: :iranian journal of neurology 0
majid ghasemi neuroscience research center and department of neurology, school of medicine, ‎isfahan university of medical sciences, isfahan, iran‎

amyotrophic lateral sclerosis (als) misdiagnosis has many broad implications for the patient and the neurologist. potentially curative treatments exist for certain als mimic syndromes, but delay in starting these therapies may have an unfavorable effect on outcome. hence, it is important to exclude similar conditions. in this review, we discuss some of the important mimics of als.

Journal: :Neuron 2010
Virginia Le Verche Serge Przedborski

SOD1 is a cause of the fatal, paralytic disorder ALS. Although mechanisms underlying mutant SOD1 neurotoxicity remain uncertain, this protein associates with mitochondria. In this issue of Neuron, Israelson et al. show that mutant SOD1 binds and inhibits the mitochondrial channel VDAC1. This finding sheds light onto possible molecular links between mutant SOD1, mitochondrial dysfunction, and sp...

2012
Dhruv Sareen Allison D. Ebert Brittany M. Heins Jered V. McGivern Loren Ornelas Clive N. Svendsen

Spinal muscular atrophy (SMA) is a genetic disorder caused by a deletion of the survival motor neuron 1 gene leading to motor neuron loss, muscle atrophy, paralysis, and death. We show here that induced pluripotent stem cell (iPSC) lines generated from two Type I SMA subjects-one produced with lentiviral constructs and the second using a virus-free plasmid-based approach-recapitulate the diseas...

Journal: :The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 1989
T R Winder R N Auer

A 53 year old man developed symptoms of motor neuron disease in childhood. There was a family history of a similar disorder and it was felt to represent a form of Kugelberg-Welander disease. In addition to the motor deficits, sensory abnormalities in his legs were documented during life. Autopsy revealed anterior horn cell loss throughout the length of the spinal cord, with preservation of the ...

Journal: :Current opinion in biotechnology 2009
Sophia T Papadeas Nicholas J Maragakis

Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disorder characterized primarily by motor neuron loss in the motor cortex and spinal cord leading to progressive disability and death. Despite the relative selectivity of motor neuron loss, recent studies have implicated other cell types including astrocytes and microglia as contributors to this cell death. This understanding has result...

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease characterized by death of motor neurons leading to devastating muscle weakness and wasting and weight loss. It causes mixed picture of lower motor neuron (LMN) and upper motor neuron (UMN) dysfunction. The wide spectrums of atypical presentations can frequently lead to expensive work-up and undue delay in diagnosis o...

Journal: :Brain research 2010
Isabel Carreras Sinan Yuruker Nurgul Aytan Lokman Hossain Ji-Kyung Choi Bruce G Jenkins Neil W Kowall Alpaslan Dedeoglu

The relationship between exercise and amyotrophic lateral sclerosis (ALS), a neurodegenerative disorder characterized by motor neuron loss, rapidly progressive weakness and early death has been controversial. We studied the effect of a high (HEX) and moderate-level exercise (MEX) on body weight, motor performance and motor neuron counts in the ventral horn of spinal cords in a transgenic mouse ...

Journal: :Neurology 2002
J S Katz R J Barohn S Kojan G I Wolfe S P Nations D S Saperstein A A Amato

BACKGROUND Conduction block is considered an essential finding for the distinction between motor neuropathies and lower motor neuron disorders. Only a small number of reports describe patients with multifocal motor neuropathies who lack overt conduction block, although in these cases other features of demyelination still suggest the presence of a demyelinating disorder. In contrast, a purely ax...

Journal: :physiology and pharmacology 0
maryam anjomshoaa khadije karbalaei shahnaz razavi mohammad mardani somayeh tanhaei mohammad hossien nasr esfahani dept. stem cells, royan institute, tehran, iran

introduction: the aim of this study was evaluate the ability of notochord to induce neural induction and/or differentiation of mouse embryonic stem cell to neuron and motor neuron, respectively. methods: in order to produce embryoid bodies, es cells line royan b1 were grown in suspension in the absence of lif for 4 days. ebs were divided into 4 groups. ebs in group 1 & 2 were further cultured i...

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