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Amyotroph Lateral Scler 2012 Oct;13 Suppl 1:1-197

Amyotroph Lateral Scler 2012 Oct 13;13(6):544-9. Epub 2012 Aug 13.

Department of Neurology, National Hospital Organization Takamatsu Medical Center, Takamatsu, Japan.

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. Read More

Amyotroph Lateral Scler 2012 Oct 12;13(6):599-601. Epub 2012 Aug 12.

Université de Lorraine (France), APEMAC, EA 4360, France.

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. Read More

Amyotroph Lateral Scler 2012 Sep 9;13(5):477-8. Epub 2012 Aug 9.

Department of Neurology, KLE University's Jawaharlal Nehru Medical College & KLES Dr Prabhakar Kore Hospital and MRC, Nehrunagar, Belgaum, India.

Amyotroph Lateral Scler 2012 Oct 8;13(6):533-7. Epub 2012 Aug 8.

Department of Physical Medicine and Rehabilitation, Santa Maria Hospital, Lisbon, Portugal.

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. Read More

Amyotroph Lateral Scler 2012 Oct 8;13(6):580-4. Epub 2012 Aug 8.

Istituto di Neurologia, Università Cattolica del Sacro Cuore, Roma, Italy.

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. Read More

Amyotroph Lateral Scler 2012 Oct 8;13(6):585-8. Epub 2012 Aug 8.

UMR INSERM U930, Université François Rabelais de Tours, Tours, France.

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. Read More

Amyotroph Lateral Scler 2012 Sep 8;13(5):487-91. Epub 2012 Aug 8.

Amyotroph Lateral Scler 2012 Sep 8;13(5):446-51. Epub 2012 Aug 8.

Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Centre Utrecht, Utrecht, The Netherlands.

Our objective was to investigate TDP-43 plasma levels in patients with amyotrophic lateral sclerosis (ALS). TDP-43 has been identified as a major component of protein inclusions in the brain of patients with ALS; mutations in the corresponding gene (TARDBP) have also been identified. Although increased TDP-43 levels have been reported in the cerebrospinal fluid, plasma levels have not yet been assessed in patients with ALS. Read More

Amyotroph Lateral Scler 2012 Oct 8;13(6):592-8. Epub 2012 Aug 8.

King's College London, KHP Centre for Neurodegeneration Research, Department of Psychology, Institute of Psychiatry, London, UK.

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. Read More

Amyotroph Lateral Scler 2012 Oct 8;13(6):589-91. Epub 2012 Aug 8.

University of Michigan Medical School, Michigan, USA.

Amyotroph Lateral Scler 2012 Sep 7;13(5):452-8. Epub 2012 Aug 7.

NEuroMuscular Omnicentre, Fondazione Serena Onlus, Niguarda Ca' Granda Hospital, Department of Psychology, Università Cattolica del Sacro Cuore, Milan, Italy.

Clinical experience has shown an increase of behavioural and mood symptoms, especially in the areas of aggressiveness, sexuality and obsessiveness, during the late stages of ALS. The lack of conclusive data concerning these symptoms prompted us to assess the psychological aspects of ALS patients in advanced stages of the disease. Moreover, we evaluated the personality of their caregivers in order to analyse the relationship between the pair. Read More

Amyotroph Lateral Scler 2012 Oct 7;13(6):528-32. Epub 2012 Aug 7.

Academic Neurology Unit, Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, South Yorkshire, UK. m.k.rafi [email protected] eld.ac.uk

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. Read More

Amyotroph Lateral Scler 2012 Oct 7;13(6):555-9. Epub 2012 Aug 7.

Speech and Language Therapy Department, King's College Hospital, London, UK.

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. Read More

Amyotroph Lateral Scler 2012 Sep 7;13(5):459-64. Epub 2012 Aug 7.

The Stacey Motor Neuron Disease Laboratory, Department of Pathology, The University of Sydney, Sydney, New South Wales, Australia.

Studies in the northern hemisphere suggest that the numbers of amyotrophic lateral sclerosis (ALS) births vary depending on the season of the year. We wished to determine if a southern hemisphere study would show the same seasonal changes, and whether particular weather conditions were associated with the numbers of ALS births. Birth data from a case-control study of Australian residents were used to relate monthly birth rates of ALS to the seasons and weather conditions. Read More

Amyotroph Lateral Scler 2012 Oct 7;13(6):573-9. Epub 2012 Aug 7.

Department of Nutrition, Harvard School of Public Health, Boston, Massachusetts 02155, USA.

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). Read More

Amyotroph Lateral Scler 2012 Sep 7;13(5):418-29. Epub 2012 Aug 7.

F. Hoffmann-La Roche Ltd., CNS Pharma Research & Early Development, Basel, Switzerland.

Insulin-like growth factor I (IGF-I) has been successfully tested in the SOD1-G93A mouse model of familial amyotrophic lateral sclerosis (ALS) and proposed for clinical treatment. However, beneficial effects required gene therapy or intrathecal application. Circumventing the dosing issues we recently found that polyethylene glycol (PEG) modified IGF-I (PEG-IGF-I) modulated neuromuscular function after systemic application, and protected against disease progression in a motor neuron disease model. Read More

Amyotroph Lateral Scler 2012 Oct 7;13(6):560-1. Epub 2012 Aug 7.

Amyotroph Lateral Scler 2012 Oct 9;13(6):538-43. Epub 2012 Jul 9.

CHU Limoges, Service d'Hépato-Gastro-Entérologie, Unité Fonctionnelle de Nutrition, Limoges, France.

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. Read More

Amyotroph Lateral Scler 2012 Oct 18;13(6):550-4. Epub 2012 Jun 18.

Unidade de Nutriçãoe Metabolismo Instituto de Medicina Molecular, Laboratório de Nutrição da Faculdade de Medicina da Universidade de Lisboa, Portugal.

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. Read More

Amyotroph Lateral Scler 2012 Oct 18;13(6):562-6. Epub 2012 Jun 18.

Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.

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. Read More

Amyotroph Lateral Scler 2012 Sep 7;13(5):439-45. Epub 2012 Jun 7.

Department of Neurology, Beth Israel Deaconess Medical Center, Boston, Massachusetts 02215, USA.

Electrical impedance myography (EIM), a non-invasive, electrophysiological technique, has preliminarily shown value as an ALS biomarker. Here we perform a multicenter study to further assess EIM's potential for tracking ALS. ALS patients were enrolled across eight sites. Read More

Amyotroph Lateral Scler 2012 Sep 7;13(5):475-6. Epub 2012 Jun 7.

Department of Neurology, University Hospital of Saint-Etienne, Saint-Etienne, France.

We report the case of a 75-year-old female who had a trismus as the first, long-lasting and, isolated symptom of ALS. We discuss also therapeutic possibilities. Read More

Amyotroph Lateral Scler 2012 Oct 7;13(6):570-2. Epub 2012 Jun 7.

Department of Neurology, Tokyo Metropolitan Neurological Hospital, Japan.

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. Read More

Amyotroph Lateral Scler 2012 Oct 7;13(6):502-8. Epub 2012 Jun 7.

MRC Centre for Neurodegeneration Research, King's College London, Institute of Psychiatry, London, UK.

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. Read More

Amyotroph Lateral Scler 2012 Sep 7;13(5):471-2. Epub 2012 Jun 7.

Amyotroph Lateral Scler 2012 Sep 7;13(5):473-4. Epub 2012 Jun 7.

Weill Medical College of Cornell University, Hospital for Special Surgery, New York, NY 10065, USA.

The association between RBD and synucleinopathies is well known. However, the association between RBD and other neuromuscular diseases has not been as well described. Our case study describes two siblings with familial ALS, confirmed by the identification of the L84F mutation in the SOD1 gene, and RDB. Read More

Amyotroph Lateral Scler 2012 Oct 7;13(6):567-9. Epub 2012 Jun 7.

Forbes Norris ALS/MND Research Center, California Pacific Medical Center, San Francisco, California, USA.

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. Read More

Amyotroph Lateral Scler 2012 Jun;13(4):400-4

Amyotroph Lateral Scler 2012 Jun;13(4):398-9