نتایج جستجو برای: sporadic amyotrophic lateral sclerosis sals

تعداد نتایج: 198646  

2013
Yui Nakayama Satoru Morimoto Misao Yoneda Shigeki Kuzuhara Yasumasa Kokubo

Objective. Amyotrophic lateral sclerosis/parkinsonism-dementia complex is classified as one of the tauopathies. Methods. The total tau, phosphorylated tau, and amyloid β42 levels were assayed in cerebrospinal fluid from patients with Kii amyotrophic lateral sclerosis/parkinsonism-dementia complex (n = 12), Alzheimer's disease (n = 9), Parkinson's disease (n = 9), amyotrophic lateral sclerosis (...

Journal: :Genetic testing and molecular biomarkers 2012
Ali Sazci Mavi Deniz Ozel Ergul Emel Halil Atilla Idrisoglu

Studies have revealed that elevated homocysteine levels can cause damage to motor neurons through multiple neurotoxic mechanisms, thus leading to the pathogenesis of amyotrophic lateral sclerosis (ALS). One way by which homocysteine levels are increased in the body is the consequence of methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms. Therefore, to address this question, we studi...

2012
Ali Sazci Mavi Deniz Ozel Ergul Emel Halil Atilla Idrisoglu

Studies have revealed that elevated homocysteine levels can cause damage to motor neurons through multiple neurotoxic mechanisms, thus leading to the pathogenesis of amyotrophic lateral sclerosis (ALS). One way by which homocysteine levels are increased in the body is the consequence of methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms. Therefore, to address this question, we studi...

2009
Pilar Larrodé Pedro Iñarrea José L. Capablo Cristina Iñiguez José R. Ara Jesús Martin Enrique Mostacero

Background: Evidence suggests that mitochondrial dysfunction and oxidative stress may be involved in the pathogenesis of Amyotrophic Lateral Sclerosis (ALS). Some studies show the presence of altered anti-oxidative defence enzyme activity in the blood of ALS patients. It has also been demonstrated that a superoxide-dismutase-1 (SOD1) enzyme fraction is located in the mitochondria. Objective: To...

Journal: :Journal of the Korean neurological association 2022

The phosphorylated 43-kDa transactive response DNA-binding protein (TDP-43) was identified as a major disease in sporadic amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration. We present case with progressive muscle weakness who diagnosed ALS. On postmortem examination, TDP-43 immunoreactive neuronal cytoplasmic inclusions were noted motor cortex, hippocampus anterior horns...

Journal: :Brain : a journal of neurology 2005
M R Turner A Hammers A Al-Chalabi C E Shaw P M Andersen D J Brooks P N Leigh

Five to ten percent of amyotrophic lateral sclerosis (ALS) cases are associated with mutations of the superoxide dismutase-1 (SOD1) gene, and the 'D90A' mutation is associated with a unique phenotype and markedly slower disease progression (mean survival time 14 years). Relative sparing of inhibitory cortical neuronal circuits might be one mechanism contributing to the slower progression in pat...

Journal: :Archives of neurology 2010
Hussein Daoud Véronique Belzil Anne Desjarlais William Camu Patrick A Dion Guy A Rouleau

A myotrophic lateral sclerosis (ALS) is an adultonset neurodegenerative disease characterized by progressive loss of motor neurons from the spinal cord, brainstem, and cerebral cortex that typically results in death 2 to 5 years following onset. Approximately 10% of patients with ALS have a family history, of which 15% to 20% are linked to mutations in the SOD1 gene; these patients most frequen...

Journal: :Brain : a journal of neurology 2012
Javier Simón-Sánchez Elise G P Dopper Petra E Cohn-Hokke Renate K Hukema Nayia Nicolaou Harro Seelaar J Roos A de Graaf Inge de Koning Natasja M van Schoor Dorly J H Deeg Marion Smits Joost Raaphorst Leonard H van den Berg Helenius J Schelhaas Christine E M De Die-Smulders Danielle Majoor-Krakauer Annemieke J M Rozemuller Rob Willemsen Yolande A L Pijnenburg Peter Heutink John C van Swieten

There is increasing evidence that frontotemporal dementia and amyotrophic lateral sclerosis are part of a disease continuum. Recently, a hexanucleotide repeat expansion in C9orf72 was identified as a major cause of both sporadic and familial frontotemporal dementia and amyotrophic lateral sclerosis. The aim of this study was to investigate clinical and neuropathological characteristics of hexan...

2016
YongPing Chen QianQian Wei XuePing Chen ChunYu Li Bei Cao RuWei Ou Shinji Hadano Hui-Fang Shang

BACKGROUND Accumulating evidence indicates that miRNAs play an important role in the development of amyotrophic lateral sclerosis (ALS). Most of previous studies on miRNA dysregulation in ALS focused on the alterative expression in ALS animal model or in limited samples from European patients with ALS. In the present study, the miRNA expression profiles were investigated in Chinese ALS patients...

2014
Ricarda A. L. Menke Sonja Körner Nicola Filippini Gwenaëlle Douaud Steven Knight Kevin Talbot Martin R. Turner

Diagnosis, stratification and monitoring of disease progression in amyotrophic lateral sclerosis currently rely on clinical history and examination. The phenotypic heterogeneity of amyotrophic lateral sclerosis, including extramotor cognitive impairments is now well recognized. Candidate biomarkers have shown variable sensitivity and specificity, and studies have been mainly undertaken only cro...

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