amyotrophic lateral sclerosis

Top PDF amyotrophic lateral sclerosis:

Wnt Signaling Alteration in the Spinal Cord of Amyotrophic Lateral Sclerosis Transgenic Mice: Special Focus on Frizzled-5 Cellular Expression Pattern.

Wnt Signaling Alteration in the Spinal Cord of Amyotrophic Lateral Sclerosis Transgenic Mice: Special Focus on Frizzled-5 Cellular Expression Pattern.

Based on previous studies demonstrating the expression of Wnts and their transcriptional regulation during Amyotrophic lateral sclerosis development, we have analyzed the mRNA expression of several Wnt signaling components in the spinal cord of SOD1 G93A transgenic mice at different stages of the disease by using real time quantitative PCR analysis. Strik- ingly, one of the molecules that seemed not to be altered at mRNA level, Frizzled-5, showed a clear up-regulation at late stages in neurons, as evidenced by immunofluorescence assays. Moreover, increased Frizzled-5 appears to correlate with a decrease in NeuN sig- nal in these cells, suggesting a correlation between neuronal affectation and the increased expression of this receptor.
Mostrar mais

17 Ler mais

Amyotrophic lateral sclerosis in Brazil: 1998 national survey

Amyotrophic lateral sclerosis in Brazil: 1998 national survey

ABSTRACT - Objectives: To assess the epidemiologic characteristics of amyotrophic lateral sclerosis (ALS) in Brazil in 1998. Method: Structured Clinical Report Forms (CRFs) sent to 2,505 Brazilian neurologists from January to September 1998 to be filled with demographic and clinical data regarding any ALS patient seen at any time during that year. Results: Five hundred and forty CRFs were returned by 168 neurologists. Data on 443 patients meeting the criteria of probable or definite ALS according to El Escorial definition were analysed: 63 probable (14.2%) and 380 definite (85.8%). Two hundred and fifty-nine (58.5%) of the patients were male, mean age of onset was 52. Spinal onset occurred in 306 patients (69%); bulbar onset in 82 (18.5%), and both in 52 (11.7%). Twenty-six (5.9%) had a family history of ALS. Two hundred and fifty-nine (58.6%) were seen by private practitioners, and 178 (40.2%) at a hospital clinic. Age-ajusted incidence shows a peak incidence at the 65-74 years old range. Conclusions: The disease’s characteristics are similar to those described in international studies, except for age of onset (Brazilian patients are younger). This difference is not confirmed when figures are age-adjusted.
Mostrar mais

9 Ler mais

Immunoglobulins from amyotrophic lateral sclerosis patients enhance the frequency of glycine-mediated spontaneous inhibitory postsynaptic currents in rat hypoglossal motoneurons

Immunoglobulins from amyotrophic lateral sclerosis patients enhance the frequency of glycine-mediated spontaneous inhibitory postsynaptic currents in rat hypoglossal motoneurons

In our previous studies, the effects of ALS IgGs on spontaneous release of glutamate were tested on hippocampal cells in culture. It was reported that ALS IgGs induce a significant increase in frequency but not in amplitude of spontaneous and miniature glutamatergic currents through a mechanism that is independent of external calcium (Andjus et al., ImmunoglobulIns From AmyotrophIc lAterAl sclerosIs pAtIents enhAnce the Frequency oF glycIne-medIAted spontAneous InhIbItory postsynAptIc

5 Ler mais

Identification of epigenetically altered genes in sporadic amyotrophic lateral sclerosis.

Identification of epigenetically altered genes in sporadic amyotrophic lateral sclerosis.

Literature mining analysis. A literature mining approach was used to obtain a comprehensive list of potential ALS-associated targets (genes/proteins). SciMiner, a web-based literature mining tool [89,90], retrieves, processes documents, and identifies potential ALS-associated targets from the ALS-related literature, defined by a PubMed-style query of ‘‘Amyotrophic Lateral Sclerosis’’. The concordant epigenes were compared against the literature-derived ALS-associated targets that were observed in at least 2 or more papers and whose frequency (in terms of the number of papers) was significantly different from the background. Fisher’s exact test (p- value ,0.05) was used to determine whether each gene’s frequency was significantly different from the complete collection of abstracts of over 20 million papers in PubMed. The concordant genes identified by the high-throughput arrays were compared with these literature-derived ALS-related genes to identify which known disease-relevant genes are most highly methylated/expressed and, consequently, likely involved in disease pathogenesis. The resulting genes were designated as literature-derived ALS-associated epi- genes.
Mostrar mais

15 Ler mais

Are Amyotrophic Lateral Sclerosis Caregivers at Higher Risk for Health Problems?

Are Amyotrophic Lateral Sclerosis Caregivers at Higher Risk for Health Problems?

Amyotrophic lateral sclerosis (ALS) is the most com- mon motor neuron disease (MND) characterized by the progressive loss of the upper and lower motor neurons function without notable sensory symptoms. Idiopathic and fatal, about 5% - 10% of ALS are familial and there is a genetic overlap with other progressive neurodegenerative syndromes such as front temporal dementia (FTD), with 20% - 50% of ALS patients fulfilling the consensus criteria for probable or definite FTD. 1-3

7 Ler mais

Amyotrophic lateral sclerosis in a Brazilian Kayapó-Xikrin native

Amyotrophic lateral sclerosis in a Brazilian Kayapó-Xikrin native

Amyotrophic lateral sclerosis (ALS) is one of the ma- jor neurodegenerative disorders alongside Alzheimer’s disease and Parkinson’s disease. It is a progressive disor- der that involves degeneration of motor system at all lev- els, leading to muscle weakness and fatal course. Physical signs of this disease thus encompass both upper and low- er motor neurons.The former is characterized by brisk re- lexes and signs of pyramidal release such as Babinski sign, and the latter by muscle atrophy and fasciculation 1 . The

3 Ler mais

Frontostriatal grey matter atrophy in amyotrophic lateral sclerosis

Frontostriatal grey matter atrophy in amyotrophic lateral sclerosis

ABSTRACT. Amyotrophic lateral sclerosis (ALS) is characterised by frontostriatal grey matter changes similar to those in frontotemporal dementia (FTD). However, these changes are usually detected at a group level, and simple visual magnetic resonance imaging (MRI) cortical atrophy scales may further elucidate frontostriatal changes in ALS. Objective: To investigate whether frontostriatal changes are detectable using simple visual MRI atrophy rating scales applied at an individual patient level in ALS. Methods: 21 ALS patients and 17 controls were recruited and underwent an MRI scan. Prefrontal cortex sub-regions of the medial orbitofrontal cortex (MOFC), lateral orbitofrontal cortex (LOFC) and anterior cingulate cortex (ACC), striatal sub-regions of the caudate nucleus (CN) and nucleus accumbens (NAcc) were rated using visual grey matter atrophy 5-point Likert scales. Results: Significantly higher atrophy ratings in the bilateral MOFC only in ALS patients versus controls was observed (p<.05). Patients with greater MOFC atrophy had significantly higher atrophy of the CN (p<.05) and LOFC (p<.05). Conclusion: Use of simple visual atrophy rating scales on an individual level reliably detects frontostriatal deficits specific to ALS, showing MOFC atrophy differences with associated CN and LOFC atrophy. This is an applicable method that could be used to support clinical diagnosis and management. Key words: amyotrophic lateral sclerosis, magnetic resonance imaging, orbitofrontal cortex, striatum, visual atrophy rating scale.
Mostrar mais

6 Ler mais

Quality of life of patients with Amyotrophic Lateral Sclerosis

Quality of life of patients with Amyotrophic Lateral Sclerosis

This study identified factors that negatively impacted the quality of life of patients with Amyotro- phic Lateral Sclerosis through the specific quality of life instrument for patients with Amyotrophic Lateral Sclerosis. The physical mobility domains and activi- ties of daily living have impaired the quality of life. However, the feeding and communication domains were more impaired in patients with bulbar amyotro- phic lateral sclerosis. Variables such as age, gender, and type of treatment had no relation to quality of life. Problems with health care and lack of social support to the caregiver are factors that negatively correlated with the patient´s quality of life.
Mostrar mais

8 Ler mais

Conjugal amyotrophic lateral sclerosis in Brazil

Conjugal amyotrophic lateral sclerosis in Brazil

abstract – The origin of amyotrophic lateral sclerosis (ALS) remains unknown, although it seems to be multifactorial. The role of environmental factors has been frequently investigated and suspicion of its influence can be obtained when clusters of a rare disease are described. Objective: To describe conjugal cases of ALS in Brazil. Method: We describe 2 couples in which both spouses were affected by ALS. Both couples had lived in southeast Brazil and were married for at least 20 years. Results: There was a great variability in clinical presentation of ALS in our patients. In both couples the interval between disease onsets was short. No precise environmental factors could be identified at the origin of these conjugal cases. Conclusion: The occurrence of ALS in couples living in the same area may be epidemiologically important, but we cannot exclude that cases may be due to a chance association.
Mostrar mais

4 Ler mais

Platelet serotonin level predicts survival in amyotrophic lateral sclerosis.

Platelet serotonin level predicts survival in amyotrophic lateral sclerosis.

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder affecting both lower motor neurons (LMN) and upper motor neurons (UMN), and leads to death within 2 to 5 years of onset. Clinical features and progression are highly heterogeneous among patients (for review see [1]). There are currently few identified disease-modifying factors accounting for this heteroge- neity. Among these, energy metabolism abnormalities have been shown in ALS patients [2,3,4,5] and their potential contribution to the course of the disease has been stressed [6], but little is known about the factors triggering these abnormalities.
Mostrar mais

5 Ler mais

Investigating Default Mode and Sensorimotor Network Connectivity in Amyotrophic Lateral Sclerosis.

Investigating Default Mode and Sensorimotor Network Connectivity in Amyotrophic Lateral Sclerosis.

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative condition characterized by degeneration of upper motor neurons (UMN) arising from the motor cortex in the brain and lower motor neurons (LMN) in the brainstem and spinal cord. Cerebral changes create dif- ferences in brain activity captured by functional magnetic resonance imaging (fMRI), including the spontaneous and simultaneous activity occurring between regions known as the resting state networks (RSNs). Progressive neurodegeneration as observed in ALS may lead to a disruption of RSNs which could provide insights into the disease process. Previous studies have reported conflicting findings of increased, decreased, or unaltered RSN functional connectivity in ALS and do not report the contribution of UMN changes to RSN connectivity. We aimed to bridge this gap by exploring two networks, the default mode network (DMN) and the sensorimotor network (SMN), in 21 ALS patients and 40 age-matched healthy volunteers. An UMN score dichotomized patients into UMN+ and UMN- groups. Subjects underwent resting state fMRI scan on a high field MRI operating at 4.7 tesla. The DMN and SMN changes between subject groups were compared. Corre- lations between connectivity and clinical measures such as the ALS Functional Rating Scale—Revised (ALSFRS-R), disease progression rate, symptom duration, UMN score and finger tapping were assessed. Significant group differences in resting state networks between patients and controls were absent, as was the dependence on degree of UMN burden. However, DMN connectivity was increased in patients with greater disability and faster progression rate, and SMN connectivity was reduced in those with greater motor impairment. These patterns of association are in line with literature supporting loss of inhibitory interneurons.
Mostrar mais

14 Ler mais

Characterization of FUS mutations in amyotrophic lateral sclerosis using RNA-Seq.

Characterization of FUS mutations in amyotrophic lateral sclerosis using RNA-Seq.

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease resulting in severe muscle weakness and eventual death by respiratory failure. Although little is known about its pathogenesis, mutations in fused in sarcoma/translated in liposarcoma (FUS) are causative for familial ALS. FUS is a multifunctional protein that is involved in many aspects of RNA processing. To elucidate the role of FUS in ALS, we overexpressed wild-type and two mutant forms of FUS in HEK-293T cells, as well as knocked-down FUS expression. This was followed by RNA-Seq to identify genes which displayed differential expression or altered splicing patterns. Pathway analysis revealed that overexpression of wild-type FUS regulates ribosomal genes, whereas knock-down of FUS additionally affects expression of spliceosome related genes. Furthermore, cells expressing mutant FUS displayed global transcription patterns more similar to cells overexpressing wild-type FUS than to the knock-down condition. This observation suggests that FUS mutants do not contribute to the pathogenesis of ALS through a loss-of-function. Finally, our results demonstrate that the R521G and R522G mutations display differences in their influence on transcription and splicing. Taken together, these results provide additional insights into the function of FUS and how mutations contribute to the development of ALS.
Mostrar mais

8 Ler mais

Amyotrophic lateral sclerosis: considerations on diagnostic criteria

Amyotrophic lateral sclerosis: considerations on diagnostic criteria

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder, compromising the motor neuron, characterized by progressive muscle weakness, with reserved prognosis. The diagnosis is based on inclusion and exclusion clinical criteria, since there is no specific confirmation test. The objective of this research is to critically examine the main diagnosis instrument - El Escorial revisited, from the World Federation of Neurology (1998). Of the 540 patients with initial ALS diagnosis, either probable or definite, seen at UNIFESP-EPM, 190 underwent thorough investigation, following regular clinical and therapeutic treatment for over two years. Thirty patients (15.78%) had their diagnosis completely changed. The false-positive diagnoses were related to: early age, clinical presentation of symmetry, weakness greater than atrophy, symptomatic exacerbation. In addition, three patients with myasthenia gravis developed framework for ALS, suggesting the post-synaptic disability as a sign of early disease.
Mostrar mais

6 Ler mais

Axonal hyperpolarization in amyotrophic lateral sclerosis

Axonal hyperpolarization in amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis (ALS) is a progressive fatal neurodegenerative disorder of uncertain pathogenesis. The disorder is named for its underlying pathophysiology, with “amyotrophy” referring to the atrophy of muscle fibers, a consequence of anterior horn cells degeneration. “Lateral sclerosis” refers to the changes seen in the lateral columns of the spinal cord as upper motor neuron (UMN) axons are replaced by fibrous astrocytes (gliosis) following Wallerian degeneration (Charcot and Joffroy, 1869). In its classic form, ALS affects motor neurons at two or more regions of the body. It affects lower motor neurons (LMNs) that reside in the anterior horn of the spinal cord and brainstem, and corticospinal UMNs that are located in the precentral gyrus (Swash and Desai, 2000).
Mostrar mais

56 Ler mais

Elevated serum ferritin is associated with reduced survival in amyotrophic lateral sclerosis.

Elevated serum ferritin is associated with reduced survival in amyotrophic lateral sclerosis.

Background: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder caused by the loss of motor neurons. Its etiology remains unknown, but several hypothesis have been raised to explain motor neuron death, including oxidative stress. Dysregulation of cellular iron metabolism can lead to increased oxidative stress, and existing data argue for a role of iron metabolism in ALS pathophysiology.

6 Ler mais

Study of the electromyographic signal dynamic behavior in Amyotrophic Lateral Sclerosis (ALS)

Study of the electromyographic signal dynamic behavior in Amyotrophic Lateral Sclerosis (ALS)

Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease characterized by motor neurons degeneration, which reduces muscular force, being very difficult to diag- nose. Mathematical methods are used in order to analyze the surface electromiographic signal’s dynamic behavior (Fractal Dimension (FD) and Multiscale Entropy (MSE)), eval- uate different muscle group’s synchronization (Coherence and Phase Locking Factor (PLF)) and to evaluate the signal’s complexity (Lempel-Ziv (LZ) techniques and Detrended Fluc- tuation Analysis (DFA)). Surface electromiographic signal acquisitions were performed in upper limb muscles, being the analysis executed for instants of contraction for ipsilat- eral acquisitions for patients and control groups. Results from LZ, DFA and MSE anal- ysis present capability to distinguish between the patient group and the control group, whereas coherence, PLF and FD algorithms present results very similar for both groups. LZ, DFA and MSE algorithms appear then to be a good measure of corticospinal path- ways integrity. A classification algorithm was applied to the results in combination with extracted features from the surface electromiographic signal, with an accuracy percentage higher than 70% for 118 combinations for at least one classifier. The classification results demonstrate capability to distinguish members between patients and control groups. These results can demonstrate a major importance in the disease diagnose, once surface electromyography (sEMG) may be used as an auxiliary diagnose method.
Mostrar mais

100 Ler mais

Nutritional care in motor neurone disease/ amyotrophic lateral sclerosis

Nutritional care in motor neurone disease/ amyotrophic lateral sclerosis

Patients with amyotrophic lateral sclerosis (ALS) often present changes in nutritional status. Based on weight loss and on difficulty in nutri- tional management, this study aims to review the different possibilities and to present guidelines concerning nutritional treatment to such patients. Diet characteristics, types of treatment and nutritional therapy indicating administration routes and discussing the details of the disease are described herein. Nutritional therapy has been a substantial therapeutic resource for ALS development.

7 Ler mais

CX3CR1 is a modifying gene of survival and progression in amyotrophic lateral sclerosis.

CX3CR1 is a modifying gene of survival and progression in amyotrophic lateral sclerosis.

The objective of this study was to investigate the association of functional variants of the human CX3CR1 gene (Fractalkine receptor) with the risk of Amyotrophic Lateral Sclerosis (ALS), the survival and the progression rate of the disease symptoms in a Spanish ALS cohort. 187 ALS patients (142 sporadic [sALS] and 45 familial) and 378 controls were recruited. We investigated CX3CR1 V249I (rs3732379) and T280M (rs3732378) genotypes and their haplotypes as predictors of survival, the progression rate of the symptoms (as measured by ALSFRS-R and FVC decline) and the risk of suffering ALS disease. The results indicated that sALS patients with CX3CR1 249 I/I or 249 V/I genotypes presented a shorter survival time (42.2764.90)
Mostrar mais

8 Ler mais

Amyotrophic lateral sclerosis (ALS): three letters that change the people's life. For ever

Amyotrophic lateral sclerosis (ALS): three letters that change the people's life. For ever

The speciic term “Motor Neuron Disease” (MND) is used in europe as progressive neurodegenerative disor- ders with different etiologist and clinical variability, but a common inal event: loss of upper and / or lower mo- tor neurons. Depending on which motor neurons are af- fected, there are four main forms identiied, but they may overlap: (1) primary lateral sclerosis (pls) is a condition in which upper motor neuron signs occur in the absence of lower motor neuron signs, and pathologic changes are re- stricted to the motor cortex and corticospinal tracts. it is characterized by spasticity, hiperelexia, Babinski’s signal. it represents the least common form of MND, affecting less those 2% of all cases; (2) progressive muscular atrophy (pMA) is a condition in which lower motor neuron signs correlating with a loss of anterior horn cells occur in the absence of upper motor neurons signs, and in which the motor neurons signs are preserved. it is characterized by muscle weakness and wasting, weight loss and fascicula- tion. it represents around 5% of all MND cases; (3) progres- sive bulbar palsy (pBp), affecting the muscles of the bulbar region, is characterized by dysarthria, dysphagia, tongue atrophy, and fasciculation. Approximately 20 % of patients who later develop other features of Als present initially with pBp; (4) Amyotrophic lateral sclerosis is the most fre- quent MND’s presentation, having its name as MND syn- onymous (Als / MND). it is characterized by a progressive degeneration of lower and upper motor neurons in the cerebral cortex, brainstem, and spinal cord, resulting in muscular atrophy, fasciculation’s, weakness and spasticity.
Mostrar mais

33 Ler mais

Impaired Verbal Communication: diagnosis review in patients with Amyotrophic Lateral Sclerosis

Impaired Verbal Communication: diagnosis review in patients with Amyotrophic Lateral Sclerosis

The second step occurred through online access to the da- tabases: National Library of Medicine and National Institutes of Health (PubMed), Scopus, Cochrane, Science direct, Latin American & Caribbean Literature in Health Sciences (LILACS) and Cumulative Index to Nursing and Allied Health Literature (CINAHL). We used the controlled descriptors “Amyotrophic Lateral Sclerosis” AND “Communication Disorders” and their respective equivalent terms, in the English and Spanish languages, extracted from the DeCs (Descriptors in Health Sciences) of the Virtual Health Library Portal (VHL) and MeSH Subject Head- ings) of the National Library, respecting the terminology used in each selected database.
Mostrar mais

11 Ler mais

Show all 2445 documents...