amyotrophic lateral sclerosis als lou gehrig apos s disease

... Our study demonstrates that reduced levels of full-length Vgf content in the CSF of ALS patients may be a useful measure of disease progression, as assessed by scores of muscle strength Consistently, ... sequence used to raise Vgf antibodies for ELISA assays (see Materials and Methods for more information) Decreased Vgf content In CSF and serum precedes onset of ALS- type muscle weakness assessed by ... content in CSF in ALS In A, full-length Vgf was assessed by quantitative ELISA assays; in B, Vgf content decreased as a function of progression of muscle weakness assessed by manual muscle testing...

Ngày tải lên: 03/11/2012, 10:52

Ngày tải lên: 19/06/2014, 22:20

... mutation-causing disease 1.2 What is Amyotrophic lateral sclerosis? Amyotrophic lateral sclerosis (ALS) also known as Lou Gehrig s disease, motor neuron disease (MND) or Charcot s disease was first described ... ALS ALS is divided into two forms, sporadic ALS (SALS) and familiar ALS (FALS) SALS constitute the majority of ALS cases and the disease occurs apparently at random with no clear associated risk ... effects of the ALS- associated VAPB mutations Based on these results, several models of diseases pathogenesis have been proposed and they can be broadly divided into three groups First, the ALS- associated...

Ngày tải lên: 12/10/2015, 17:34

... motor neurons in amyotrophic lateral sclerosis (ALS) : immunohistochemical studies on sporadic ALS, superoxide dismutase (SOD1)-mutated familial ALS, and SOD1-mutated ALS animal models Acta Neuropathol ... recent studies have shown that ALS is not an autonomous disease; that is, various non-neuronal cells, including astrocytes and microglia, can contribute to disease progression [9–11] As plasma membrane ... determinants of disease progression in inherited amyotrophic lateral sclerosis Nat Neurosci 11, 251–253 Boillee S, Yamanaka K, Lobsiger CS, Copeland NG, Jenkins NA, Kassiotis G, Kollias G & Cleveland...

Ngày tải lên: 23/03/2014, 04:21

... vivo ALS model [16], had low GSH levels in the lumbar spinal cord during disease progression and high glutathione disulfide (GSSG) at disease onset [17] However, GSH and GSSG levels in transgenic ... cells at the first time point This might represent the initial response of cells expressing a low level of G93ASOD1, which is possibly more complex because cell homeostasis is less compromised, as ... of GSH GCLC possesses the catalytic capacity for c-glutamylcysteine synthesis [28] and its upregulation supports high levels of GSH [23,29] In our FALS1 models, GCLC increased in the G93A-NSC...

Ngày tải lên: 29/03/2014, 23:20

... considered significant at ≤0.05 Statistical analysis was performed by statistical package and service solutions (SPSS) 16 software Results were analyzed by two independent and masked researchers ... factor-A; OR, odds ratio; CI, confidence interval; Adj, adjusted Abbreviations ALS: amyotrophic lateral sclerosis; ALSFRS-R: ALS functional rating scorerevised; ANOVA: analysis of variance; CCL2: ... individuals were probable ALS and remaining 10 were possible ALS at the time of sample collection ALS- functional rating score-revised (ALSFRS-R) revealed that 11 patients had respiratory dysfunction...

Ngày tải lên: 19/06/2014, 22:20

... aspects, that is, how to transfer pre-clinical results into successful clinical treatment Abbreviations ALS, amyotrophic lateral sclerosis ALSFRS, ALS functional rating scale ALSSS, ALS severity scale ... Neuron Diseases /Amyotrophic Lateral Sclerosis of the World Federation of Neurology Research Group on Neuromuscular Diseases and the El Escorial "Clinical limits of amyotrophic lateral sclerosis" ... expression of these genes and disease progression was provided Transcriptional profiles of fibroblasts from patients with SALS, FALS and controls have been shown to be informative in distinguishing...

Ngày tải lên: 22/06/2014, 03:20

... several studies have shown also morphological and ultrastructural changes in motor neurons that may be associated with apoptosis and/or necrosis Postmortem examination of ALS patients tissues has revealed ... Introduction Amyotrophic lateral sclerosis (ALS) , which was described since 1869 by Jean Martin Charcot, is a devastating neurodegenerative disease characterized by the selective and progressive loss of ... neurons and in their degeneration process This evidence comes from studies in several tissues of ALS patients, both from biopsies or from postmortem observations, and from direct measurements of...

Ngày tải lên: 22/06/2014, 03:20

... all ALS cases, but nevertheless represent a major known cause of the disease The clinical symptoms of fALS and sALS are similar, yet fALS patients with SOD1 mutations have an earlier age of disease ... compared to apoSH (see section 4.1), while the absence of bound metals in apoS- S SOD1 increases its aggregation propensity compared to holoS -S (see also section 4.3) Several studies have described ... dismutase mutants associated with amyotrophic lateral sclerosis show enhanced formation of Mutant Cu/Zn-Superoxide Dismutase Induced Mitochondrial Dysfunction in Amyotrophic Lateral Sclerosis...

Ngày tải lên: 22/06/2014, 03:20

... in the tissue sections from fALS patients with SOD1 mutations, more investigations will be required on the tissue samples of fALS patients with several different types of SOD1 mutations Until ... apoptosis in ALS was provided by the use of transgenic models of the disease (Shibata 2001) Histological analysis of motor neurons from transgenic mice carrying G93A SOD mutant shows decreased ... pathogenesis of ALS (Subramaniam et al 2002), but the hypothesis also has its supporters (Liochev and Fridovich 2003) The Zn-deficient hypothesis was tested using cultured motor neurons and liposomes...

Ngày tải lên: 22/06/2014, 03:20

... sporadic causes (sALS), though a common mechanism is predicted as fALS and sALS patients display indistinguishable clinical phenotypes Overexpression of mutant forms of human SOD1 causes the ALS phenotype ... Alzheimer s disease (AD), Huntington s disease (HD) and ALS) , affective disorders (e.g schizophrenia, depression and anxiety), autoimmune diseases (e.g multiple sclerosis and rheumatoid arthritis), ... cells (Beers et al., 2008) decrease survival of ALS mice, demonstrating the role of immune cells in disease progression Although ALS is a non-cell autonomous disease, mutant SOD1 expressed solely...

Ngày tải lên: 22/06/2014, 03:20

... Amyotrophic Lateral Sclerosis Name of Disease Locus Gene Protein Inheritance Clinical features ALS1 21q22 SOD1 Cu/Zn superoxide dismutase AD/AR Typical ALS ALS2 2q33 ALSin ALSin AR Juvenile onset, slowly ... involvement ALS5 15q15-21 SPG11 Spatacsin AR Juvenile onset, slowly progressive ALS6 16p11.2 FUS Fused in sarcoma AD/AR Typical ALS ALS7 20p13 N.K - AD Typical ALS ALS8 20q13 VAPB VAMP-associated ... TDP-43-positive cytoplasmic inclusions are found in almost all ALS patients but they are also seen in other neurodegenerative diseases such as FTD, Huntington s, Alzheimer s, and Parkinson s disease...

Ngày tải lên: 22/06/2014, 03:20

... Summary of the Genetic Causes of Familial ALS Genetics of Familial Amyotrophic Lateral Sclerosis 519 Genetic causes of FALS 3.1 Most common genetic causes of autosomal dominant, adult onset ALS ... amyotrophic lateral sclerosis: The ALSoD and ALSGene databases Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases 12:238-49 ... Specifically, those cases with basophilic inclusions and compact neuronal cytoplasmic FUS-positive inclusions had an earlier onset than those ALS cases with skein-like neuronal cytoplasmic inclusions, in...

Ngày tải lên: 22/06/2014, 03:20

... understanding disease progression, symptom control, 560 Amyotrophic Lateral Sclerosis managing expectations, issues relating to communication, addressing end of life issues, legal issues (mental ... Rehabilitation issues in ALS Amyotrophic Lateral Sclerosis is a fatal disease with a challenging progressive course that results in a broad and ever-changing spectrum of care needs Symptoms are varied (see ... the options of certain interventions may be timelimited as the disease continues to progress Weakness Dysphagia Dyspnoea Pain Weight loss Speech issues Constipation Cough Sleep issues Emotional...

Ngày tải lên: 22/06/2014, 03:20

... aspects, that is, how to transfer pre-clinical results into successful clinical treatment Abbreviations ALS, amyotrophic lateral sclerosis ALSFRS, ALS functional rating scale ALSSS, ALS severity scale ... remains unknown There have been reports on a familial association (Burnstein, 1981) Measuring the disease The use of ALS assessment techniques such as rating scales is to monitor disease progression ... are several synonyms for Amyotrophic Lateral Sclerosis (ALS) which include Motor Neuron Disease (MND), Charcot 's disease, and Lou Gehrig' s disease The latter is named after the American baseball...

Ngày tải lên: 28/06/2014, 11:20

... diagnosis of amyotrophic lateral sclerosis Subcommittee on Motor Neuron Diseases /Amyotrophic Lateral Sclerosis of the World Federation of Neurology Research Group on Neuromuscular Diseases and ... pathological reflexes such as Babinski responses The asymmetry of leg weakness would be consistent with ALS Asymmetric weakness, however, is also consistent with an acquired neuropathic process with demyelinating ... not seen This patient had findings that could be consistent with a lower motor neuron variant of motor system disease, but the sensory loss would argue for a polyneuropathy Sensory loss unless...

Ngày tải lên: 10/08/2014, 22:20

... may consist of a classic triad of weakness, sore tongue, and paresthesias, these are not usually the chief symptoms Onset is often with a sensation of cold, numbness, or tightness in Rison and ... therapy in ALS/ MND is unsuccessful Conclusions In summary, we present an interesting case of a patient with ALS with parallel diagnoses of MGUS, possible hyperparathyroidism (normocalcemic), plus B12 ... differences in symptoms between ALS and PHP, however Patients with PHP often have stocking-glove loss of pain and vibratory sensation as well as parathesias [25] Patients with PHP may also have associated...

Ngày tải lên: 11/08/2014, 02:21

... neurodegeneration in diseases such as Alzheimer s Disease (AD), Parkinson s Disease (PD) and more recently in Amyotrophic Lateral Sclerosis (ALS) 1.1.4.1 Alzheimer s Disease AD is the most common cause of dementia, ... characterized 16 1.2 AMYOTROPHIC LATERAL SCLEROSIS ALS, also known as Lou Gehrig s disease and motor neuron disease, is a progressive and lethal neurodegenerative disorder that is characterized by ... several sALS and fALS cases (Sreedharan et al., 2008) Additionally, TDP-43 immunopositive inclusions were found in sALS as well as fALS cases carrying A4T or I113T mutations in SOD1 (Robertson et...

Ngày tải lên: 10/09/2015, 09:29

... conduction tests is used for diagnosis ALS is classified into familial ALS (FALS) and sporadic ALS (SALS), with FALS making up approximately 10% of all ALS cases It has been almost 150 years since Jean-Martin ... of ALS patients enrolled in the study recorded scores of 24 or less Usually, an ALSFRS-R score cut-off of 24 is used to distinguish high from low disease severity In short, the plasma samples ... Rating Scale (ALSFRS-R) scores [115], most of the patients were at an early stage in the disease progression when ALS is most difficult to diagnose; 75% of the patient ALSFRS-R scores were over...

Ngày tải lên: 30/09/2015, 10:12

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Ngày tải lên: 23/03/2014, 22:20