Amyotrophic Lateral Sclerosis

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This study aimed to clarify the energy requirement in patients with amyotrophic lateral sclerosis (ALS) undergoing tracheostomy positive pressure ventilation with tracheostomy. Total energy expenditure (TEE) was measured in 10 hospitalized bedridden ALS patients using the doubly-labeled water (DLW) method. The mean TEE/day and TEE/fat- free mass estimated by DLW method were 934 ± 201 kcal/day and 34.8 ± 5.5 kcal/kg/day, respectively. The mean TEE/resting metabolic rate (RMR) was 0...

The aim of this study was to examine the coping strategies of 49 patients with amyotrophic lateral sclerosis (ALS) and the potential impact of these strategies on survival. A total of 49 subjects were recruited. Each subject was asked to complete a questionnaire on coping strategies called the Brief COPE. The various coping strategies were divided into three factor sets through a factorial analysis: active coping (α 0.84), social support (α 0.71) and avoidance (α 0.71). Each score was divided into two subgroups in relation to the median (limited use vs...

Our objective was to measure direct (hospital and NHS) and indirect (patient/caregiver) costs of following up in-home compliance to non-invasive ventilation via wireless modem. We constructed a prospective controlled trial of 40 consecutive ALS home-ventilated patients, randomly assigned according to their residence area to G1 (nearby hospital, office-based follow-up) and G2 (outside hospital area, telemetry device-based follow-up). Total NHS direct cost encompassed costs related to outpatients' visits (office and emergency room) and hospitalizations...

Neuronal nicotinic acetylcholine receptors (nAChRs) are ligand-gated ion channels widely expressed throughout the mammalian brain, including bulbar and spinal motor neurons. They are involved in neuroprotection and in control of release of many neurotransmitters, including glutamate. Previous data raised the hypothesis that rare variants in the region coding the intracellular loop subunits of nAChRs might represent one of several genetic risk factors for SALS. The aim of present study was to replicate the study in an independent cohort of ALS patients...

Amyotrophic lateral sclerosis (ALS) is the most frequent motor neuron disorder in adults. This fatal condition, due to degeneration of upper and lower motor neurons in spinal and bulbar myotomes, leads to death from respiratory failure after median disease duration of 36 months. ALS is sporadic in more than 90% of cases and familial in the remaining cases. Most studies show male predominance with a gender ratio of 3:2, but gender differences are age related. The phenotype of ALS is also different in males and females with a predominance of limb onset in males and bulbar onset in females...

Several studies have reported changes in emotional memory and processing in people with ALS (pwALS). In this study, we sought to analyse differences in emotional processing and memory between pwALS and healthy controls and to investigate the relationship between emotional memory and self-reported depression. Nineteen pwALS and 19 healthy controls were assessed on measures of emotional processing, emotional memory, verbal memory and depression. Although pwALS and controls did not differ significantly on measures of emotional memory, a subgroup of patients performed poorly on an emotional recognition task...

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Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative condition, respiratory failure being the commonest cause of death. Quality of life and survival can be improved by supporting respiratory function with non-invasive ventilation. Transcutaneous carbon dioxide monitoring is a non-invasive method of measuring arterial carbon dioxide levels enabling simple and efficient screening for respiratory failure. The aim of this study was to validate the accuracy of carbon dioxide level recorded transcutaneously with a TOSCA 500 monitor...

Our objective was to examine the pleasure derived from eating in patients with advanced ALS and how this affects advice to have a gastrostomy. Patients with advanced ALS completed a visual analogue scale indicating the pleasure they derived from eating. Data were also collected on the severity of swallow using the Hillel scale, the independent feeding status, and on whether gastrostomy was accepted or not. The findings from 38 consecutive patients indicate that pleasure derived from eating is a powerful indicator of a person's acceptance of gastrostomy...

Animal and pathological studies suggest that inflammation may contribute to amyotrophic lateral sclerosis (ALS) pathology and that non-steroidal anti-inflammatory drugs (NSAIDs) might be protective. However, there are no prospective data on the relation between NSAID use and ALS risk in humans. The relation between NSAID use and ALS risk was explored in five large prospective cohort studies (the Nurses' Health Study, the Health Professionals Follow-up Study, the Cancer Prevention Study II Nutrition Cohort, the Multiethnic Cohort Study, and the National Institutes of Health - AARP Diet and Health Study)...

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Malnutrition is associated with poor survival among patients with amyotrophic lateral sclerosis (ALS). This study aimed to evaluate nutritional assessment by a network during first consultations in patients' homes. Patients identified by the regional ALS centre gave their informed consent. Assessment included functional, nutritional issues, evaluation of the need for help, whether personal or the use of aids, and noted any dietary supplementation and modification of the texture of food. Forty patients were seen a mean of 7...

Percutaneous endoscopic gastrostomy (PEG) is a standard procedure for feeding dysphagic amyotrophic lateral sclerosis (ALS) patients. Nevertheless, the effect of prognostic factors influencing survival after PEG remains unclear. We aimed to evaluate the prognostic value of several clinical features on survival after PEG placement. This study investigated 151 patients with ALS, in whom a PEG was inserted over the last 16 years in our centre. Survival curves were determined by Kaplan-Meier and the analysis of potential prognostic factors was performed by a Cox regression model...

Our objective was to elucidate the genetic epidemiology of familial amyotrophic lateral sclerosis (FALS) and sporadic ALS (SALS) with OPTN mutations in the Japanese population. Mutational analysis of OPTN was conducted in 18 FALS pedigrees in whom mutations in other causative genes have been excluded and in 218 SALS patients by direct nucleotide sequence analysis. Novel non-synonymous variants identified in ALS patients were further screened in 271 controls. Results showed that although no mutations were identified in the FALS pedigrees, a novel heterozygous non-synonymous variant c...

We report a novel missense mutation (G37V) in exon 2 of the superoxide dismutase-1 gene in a 63-years-old Japanese male with purely lower motor neuron disease. His disease duration was 14 months, and he died of respiratory failure. The disease in this patient with the G37V mutation showed a rapid progression, although patients with G37R mutation are known to have a long survival.

Our objective was to generate a prognostic classification method for amyotrophic lateral sclerosis (ALS) from a prognostic model built using clinical variables from a population register. We carried out a retrospective multivariate analysis of 713 patients with ALS over a 20-year period from the South-East England Amyotrophic Lateral Sclerosis (SEALS) population register. Patients were randomly allocated to 'discovery' or 'test' cohorts. A prognostic score was calculated using the discovery cohort and then used to predict survival in the test cohort...

Mutations in the gene for superoxide dismutase type 1 cause amyotrophic lateral sclerosis (ALS), but are not thought to be associated with frontotemporal dementia (FTD). A lack of detailed case reports is one reason, among others, for this skepticism. This case report comments on a patient with familial ALS caused by I113T mutation in the SOD1 gene presenting with progressive cognitive and behavioral decline two years before developing progressive motor degeneration. In conclusion, this case provides evidence that SOD1 mutations can be associated with FTD...

Respiratory pacing has advanced the long-term management of respiratory failure secondary to neurological disorders. It has an established role in curtailing invasive mechanical ventilation after upper motor neuron lesions such as spinal cord injury. There is increasing interest to expand the application of intramuscular diaphragm pacing to amyotrophic lateral sclerosis (ALS), a progressive and fatal neurodegenerative disease. Although diaphragm pacing has been offered to ALS patients, evidence-based data to determine its benefits remain lacking...

We hypothesized that action potentials evoked by distal stimulation might trigger ectopic activity (multiplet discharges, MDs). By studying MDs, we investigated the involvement of the axonal part of the peripheral motor neuron in amyotrophic lateral sclerosis (ALS) and progressive muscular atrophy (PMA). We performed stimulated high-density surface EMG recordings of the thenar muscles in 10 ALS/PMA patients, five recordings per patient over a three-month period. Furthermore, motor unit number estimates (MUNE) and ALSFRS-R scores were obtained in sessions 1 and 5...