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    936 results match your criteria Amyotrophic Lateral Sclerosis [Journal]

    1 OF 19

    Energy requirement assessed by doubly-labeled water method in patients with advanced amyotrophic lateral sclerosis managed by tracheotomy positive pressure ventilation.
    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

    The impact of active coping strategies on survival in ALS: the first pilot study.
    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

    Economic cost of home-telemonitoring care for BiPAP-assisted ALS individuals.
    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

    Replication of association of CHRNA4 rare variants with sporadic amyotrophic lateral sclerosis: the Italian multicentre study.
    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

    Amyotrophic lateral sclerosis: a hormonal condition?
    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

    TDP-43 plasma levels are higher in amyotrophic lateral sclerosis.
    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

    Processing and memory for emotional and neutral material in amyotrophic lateral sclerosis.
    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

    Aggressiveness, sexuality, and obsessiveness in late stages of ALS patients and their effects on caregivers.
    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

    Using transcutaneous carbon dioxide monitor (TOSCA 500) to detect respiratory failure in patients with amyotrophic lateral sclerosis: a validation study.
    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 q@sheffi 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

    Eating-derived pleasure in amyotrophic lateral sclerosis as a predictor of non-oral feeding.
    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

    Season and weather patterns at time of birth in amyotrophic lateral sclerosis.
    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

    Non-steroidal anti-inflammatory drugs and amyotrophic lateral sclerosis: results from five prospective cohort studies.
    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

    Functional improvement in mouse models of familial amyotrophic lateral sclerosis by PEGylated insulin-like growth factor I treatment depends on disease severity.
    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

    First assessment at home of amyotrophic lateral sclerosis (ALS) patients by a nutrition network in the French region of Limousin.
    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

    What is the relevance of percutaneous endoscopic gastrostomy on the survival of patients with amyotrophic lateral sclerosis?
    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

    Mutational analysis of familial and sporadic amyotrophic lateral sclerosis with OPTN mutations in Japanese population.
    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

    Electrical impedance myography as a biomarker to assess ALS progression.
    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

    Trismus as the first symptom of amyotrophic lateral sclerosis.
    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

    Novel G37V mutation of SOD1 gene in autopsied patient with familial amyotrophic lateral sclerosis.
    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

    Prognostic categories for amyotrophic lateral sclerosis.
    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

    REM behavior disorder associated with familial amyotrophic lateral sclerosis.
    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

    Combined fulminant frontotemporal dementia and amyotrophic lateral sclerosis associated with an I113T SOD1 mutation.
    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

    An ALS case with a novel D90N-SOD1 heterozygous missense mutation.
    Amyotroph Lateral Scler 2012 Jun;13(4):393-5
    Department of Neuroscience, University of Turin, Turin, Italy.
    Abstract Amyotrophic lateral sclerosis (ALS) is the most common form of motor neuron disease. We describe the case of a patient with a rapidly progressive form of ALS characterized by both upper and lower motor neuron impairment, no early bulbar signs and severe pain in all four extremities. The patient had a heterozygous c. Read More

    Impaired proteasome function in sporadic amyotrophic lateral sclerosis.
    Amyotroph Lateral Scler 2012 Jun;13(4):367-71
    Department of Neurology/Neurosurgery and Montreal Neurological Institute, McGill University, Montreal, Canada.
    Abstract The ubiquitin-proteasome system, important for maintaining protein quality control, is compromised in experimental models of familial ALS. The objective of this study was to determine if proteasome function is impaired in sporadic ALS. Proteasomal activities and subunit composition were evaluated in homogenates of spinal cord samples obtained at autopsy from sporadic ALS and non-neurological control cases, compared to cerebellum as a clinically spared tissue. Read More

    Reduction rate of body mass index predicts prognosis for survival in amyotrophic lateral sclerosis: a multicenter study in Japan.
    Amyotroph Lateral Scler 2012 Jun;13(4):363-6
    Department of Neurology, Tokyo Metropolitan Neurological Hospital, Tokyo.
    Malnutrition in the early stage has been reported as an independent predictor of survival in amyotrophic lateral sclerosis (ALS). We analyzed retrospectively the effect of variation of body mass index (BMI) on survival in ALS patients. In total, 77 consecutive ALS patients were enrolled from nine hospitals in Japan. Read More

    An increase in ALS incidence on the Kii Peninsula, 1960-2009: a possible link to change in drinking water source.
    Amyotroph Lateral Scler 2012 Jun;13(4):347-50
    Department of Health Sciences, Kansai University of Health Sciences, Kumatori-cho, Sennan-gun, Osaka, Japan.
    We investigated changes in the incidence of amyotrophic lateral sclerosis (ALS) in the Koza/Kozagawa/Kushimoto area (K. area) in the Kii Peninsula, Japan in 1960-2009. Probable and definite ALS cases diagnosed using El Escorial criteria were collected during a five-decade period: period I-V, 1960-2009. Read More

    Is there a case for diaphragm pacing for amyotrophic lateral sclerosis patients?
    Amyotroph Lateral Scler 2012 Oct 28;13(6):521-7. Epub 2012 May 28.
    Neuroscience Research Australia, University of New South Wales, Sydney, NSW, Australia.
    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. Read More

    Safety, tolerability and pharmacodynamics of a skeletal muscle activator in amyotrophic lateral sclerosis.
    Amyotroph Lateral Scler 2012 Sep 16;13(5):430-8. Epub 2012 May 16.
    Department of Neurology, Upstate Medical University, Syracuse, NY 13210-2306, USA.
    This study was designed to evaluate the safety and tolerability of single doses of CK-2017357, an orally bioavailable fast skeletal muscle troponin activator, in patients with amyotrophic lateral sclerosis (ALS), and to explore pharmacodynamic markers related to strength, endurance, and function. Sixty-seven patients with ALS received single doses of placebo, CK-2017357 at 250 mg and 500 mg in random order, separated by one week. Safety measures assessments were performed, as well as tests of pulmonary function, limb muscle strength and endurance, and global impression of change. Read More

    Treatment with a coinducer of the heat shock response delays muscle denervation in the SOD1-G93A mouse model of amyotrophic lateral sclerosis.
    Amyotroph Lateral Scler 2012 Jun 16;13(4):378-92. Epub 2012 May 16.
    UCL Institute of Neurology, University College London, Queen Square, London, UK.
    We undertook a longitudinal study of the histological and biochemical changes at the neuromuscular junction (NMJ) in muscles of SOD1-G93A mice. We also assessed these functions in mice treated with a known heat shock protein inducer, arimoclomol. Tissue samples of treated and untreated mSOD mice were analysed for AChE and ChAT enzyme activities as markers of neuromuscular function. Read More

    Multiplet discharges after electrical stimulation: new evidence for distal excitability changes in motor neuron disease.
    Amyotroph Lateral Scler 2012 Oct 16;13(6):514-20. Epub 2012 May 16.
    Department of Clinical Neurophysiology, Erasmus MC, University Medical Centre Rotterdam, The Netherlands.
    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. Read More

    Predictors of emergent feeding tubes and tracheostomies in amyotrophic lateral sclerosis (ALS).
    Amyotroph Lateral Scler 2012 May;13(3):318-25
    Robert Wood Johnson Foundation Veterans Affairs Clinical Scholars Program, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
    Predictable decline in ALS makes unplanned gastrostomy and tracheostomy avoidable. We determined whether gastrostomy or tracheostomy insertion during emergent hospitalization is associated with patient or hospital characteristics, changed Medicare policy in 2001, or proximity to specialized ALS care. We performed a retrospective analysis of hospitalizations and procedures for ALS/MND patients in Pennsylvania between 1996 and 2009. Read More

    Juvenile and adult-onset ALS/MND among Africans: incidence, phenotype, survival: a review.
    Amyotroph Lateral Scler 2012 May;13(3):276-83
    Neuroépidémiologie Tropicale, Limoges, France.
    Aim: We reviewed the epidemiology of ALS among subjects of African origin, considering incidence, phenotype and prognosis.

    Methods: We searched Medline, Scopus, Science direct, Bibliothèque Virtuelle de Neurologie Africaine (BVNA), ( http://www-ient.unilim. Read More

    Misfolded SOD1 and ALS: zeroing in on mitochondria.
    Amyotroph Lateral Scler 2012 Jun 3;13(4):333-40. Epub 2012 Apr 3.
    Centre d'excellence en neuromique de l'Université de Montréal, Centre de recherche du CHUM (CRCHUM), Montréal, QC, Canada.
    Mutations in SOD1, causative for a subset of familial ALS cases, are associated with the formation of non-normal SOD1 conformers. Recent studies have defined this pool of SOD1 as misfolded and new antibodies have been developed to selectively detect misfolded SOD1 in vivo and in vitro. We will review these new tools and expand on the evidence demonstrating mitochondria as a common intersecting point for misfolded SOD1. Read More

    Is head trauma a risk factor for amyotrophic lateral sclerosis? An evidence based review.
    Amyotroph Lateral Scler 2012 Jun 16;13(4):351-6. Epub 2012 Mar 16.
    Tufts University School of Medicine/Baystate Medical Center, Springfield, MA 01199, USA.
    Our objective was to evaluate the epidemiological literature regarding the association between trauma to the head and ALS, in order to determine if trauma to the head is a risk factor for ALS. A Medline literature search was conducted for the period between 1980 and October 2010 using the search terms: ('head trauma' OR 'head injury') AND (ALS OR 'amyotrophic lateral sclerosis' OR MND OR 'motor neuron disease'). The references of primary articles and reviews were checked to assure completeness of the search. Read More

    Blood pressure measurements in a transgenic SOD1-G93A mouse model of amyotrophic lateral sclerosis.
    Amyotroph Lateral Scler 2012 Oct 16;13(6):509-13. Epub 2012 Mar 16.
    The Department of Physiology and Pharmacology, Sackler School of Medicine, Tel-Aviv University and the Department of Neurology, Tel-Aviv Medical Centre, Israel.
    Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive loss of motor neurons, but non-motor manifestations including autonomic dysfunction have been reported. To better understand the autonomic involvement in ALS we measured blood pressure (BP) changes. We evaluated blood pressure (BP) in a transgenic (TG) SOD1-G93A mouse model of ALS. Read More

    A systematic review of behavioural changes in motor neuron disease.
    Amyotroph Lateral Scler 2012 Oct 16;13(6):493-501. Epub 2012 Mar 16.
    Department of Neurology, Academic Medical Centre, University of Amsterdam, The Netherlands.
    Motor neuron disease (MND) and the behavioural variant of frontotemporal dementia (bvFTD) are thought to be part of a disease spectrum. There is uncertainty about the frequency and characteristics of behavioural changes in MND, and similarly, about a relation between bvFTD and the site of onset of MND. Our aim was to perform a systematic review of the publications on behavioural changes in MND. Read More

    Effect of genetic background on onset and disease progression in the SOD1-G93A model of amyotrophic lateral sclerosis.
    Amyotroph Lateral Scler 2012 May 16;13(3):302-10. Epub 2012 Mar 16.
    Group of Neuroplasticity and Regeneration, Institute of Neurosciences and Department of Cell Biology, Physiology and Immunology, Universitat Autònoma de Barcelona, Bellaterra.
    Knowledge of the potential effect of genetic background in disease models is important. The SOD1-G93A transgenic mouse is the most widely used model in amyotrophic lateral sclerosis (ALS). Since these animals show considerable variability both in the onset and the progression of the disease, this study aimed to characterize the potential differences between the two most widely used strains, C56BL/6 (B6) and B6SJL. Read More

    Does interneuronal dysfunction contribute to neurodegeneration in amyotrophic lateral sclerosis?
    Amyotroph Lateral Scler 2012 May 16;13(3):245-50. Epub 2012 Mar 16.
    Oxford University Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, Oxford, UK.
    Amyotrophic lateral sclerosis (ALS) is typically regarded as a sporadic neurodegenerative disorder that results in a catastrophic failure of the motor system, with characteristically variable involvement of upper and lower motor neuronal populations. A wide range of evidence from clinical, histological, genetic, neurophysiological, neuroimaging and neuropsychological studies, suggests that a loss of central nervous system inhibitory neuronal influence is a contributing factor in ALS pathogenesis. This loss of inhibitory function points intuitively to an 'interneuronopathy', with natural differences in cortical and spinal inhibitory networks reflected in the hitherto unexplained variable compartmentalization of pathology within upper and lower motor neuron populations. Read More

    Reducing systemic hypermetabolism by inducing hypothyroidism does not prolong survival in the SOD1-G93A mouse.
    Amyotroph Lateral Scler 2012 Jun 16;13(4):372-7. Epub 2012 Mar 16.
    Department of Neurology and Department of Medicine, Division of Endocrinology, Beth Israel Deaconess Medical Center, Boston, MA 02215, USA.
    ALS is commonly associated with a hypermetabolic state. In this study, we assess whether inhibition of this hypermetabolism via the induction of hypothyroidism can forestall disease onset and prolong life in the SOD1-G93A mouse. We treated a cohort of 16 SOD1-G93A mice with methimazole, a potent inhibitor of thyroid hormone synthesis and followed a second group of 23 untreated littermate control animals from approximately five weeks of age onward. Read More

    Inappropriately chelated iron in the cerebrospinal fluid of amyotrophic lateral sclerosis patients.
    Amyotroph Lateral Scler 2012 Jun 16;13(4):357-62. Epub 2012 Mar 16.
    Department of Biophysical Chemistry, Faculty of Physical Chemistry, University of Belgrade, Belgrade.
    ALS is characterized by oxidative damage in the brain and cerebrospinal fluid, which is exerted by pro-oxidative activity of iron. Such activity of iron can be drastically increased in the presence of inappropriate iron ligands that catalyze redox cycling of iron, thereby promoting hydroxyl radical generation. The aim of our study was to determine the relative level of inappropriate iron ligands in the cerebrospinal fluid of ALS patients. Read More

    A novel TARDBP insertion/deletion mutation in the flail arm variant of amyotrophic lateral sclerosis.
    Amyotroph Lateral Scler 2012 Sep 16;13(5):465-70. Epub 2012 Mar 16.
    Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW, Australia.
    Phenotypic variation in amyotrophic lateral sclerosis (ALS) is common, and one atypical form is the flail arm variant (FAV). Some classic ALS patients carry TARDBP mutations, and so we sought to establish whether TARDBP mutations are also present in the FAV of ALS. Mutation analysis of TARDBP, the gene encoding TDP-43, was performed in cohorts of classic and FAV ALS patients. Read More

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