Amyotrophic Lateral Sclerosis


Author: Desiree M Baron Background: Amyotrophic lateral sclerosis (ALS)-linked fused in sarcoma/translocated in liposarcoma (FUS/TLS or FUS) is concentrated within cytoplasmic stress granules under conditions of induced stress. Since only the mutants, but not the endogenous wild-type FUS, are associated with stress granules under most of the stress conditions reported […]

Amyotrophic lateral sclerosis-linked FUS/TLS alters stress granule assembly and dynamics


Author: David B Teplow According to Thomas Kuhn, the success of ‘normal science,’ the science we all practice on a daily basis, depends on the adherence to, and practice of, a paradigm accepted by the scientific community. When great scientific upheavals occur, they involve the rejection of the current paradigm […]

On the subject of rigor in the study of amyloid ...



Author: Bruce L Miller The clinical, neuropsychiatric and neuroimaging features of patients who carry the important new C9ORF72 mutation are discussed in this special series of Alzheimer’s Research & Therapy. First reported in November 2011, the C9ORF72 mutation is the most common mutation associated with both frontotemporal dementia and amyotrophic […]

The <it>C9ORF72 </it>mutation brings more answers and more questions


Author: Gabriele Nagel Background: The social and medical impact of rare diseases is increasingly recognized. Amyotrophic lateral sclerosis (ALS) is the most prevalent of the motor neuron diseases. It is characterized by rapidly progressive damage to the motor neurons with a survival of 2–5 years for the majority of patients. […]

Implementation of a population-based epidemiological rare disease registry: study protocol ...



Author: Irene Rocchetti Background: This paper provides a strategy to obtain a reliable estimate of the incidence rate for Amyotrophic lateral sclerosis based on data from the National Registry of Rare Diseases (NRRD). In fact, unobserved cases may be due to the fact that ”a long time” may intercour between […]

Modeling delay to diagnosis for Amiotrophic lateral sclerosis: under reporting ...


Author: Li Zhou We demonstrate for the first time that the genome-wide profiling of HIV-infected peripheral blood mononuclear cells (PBMCs) from HIV-patients free of neurologic disease show overrepresentation of neurodegenerative pathways (Alzheimer’s, Parkinson’s, ALS, Huntington’s and Prion Disease, etc.) in genome-wide microarray analysis, which suggests that this genome-wide representation of […]

Why are the neurodegenerative disease-related pathways overrepresented in primary HIV-infected ...



Author: Bijay Parajuli Background: Microglia are resident macrophage-like cells in the central nervous system (CNS) and cause innate immune responses via the LPS receptors, Toll-like receptor (TLR) 4 and CD14, in a variety of neuroinflammatory disorders including bacterial infection, Alzheimer’s disease, and amyotrophic lateral sclerosis. Granulocyte macrophage-colony stimulating factor (GM-CSF) […]

GM-CSF increases LPS-induced production of proinflammatory mediators via upregulation of ...


Author: Amie Steel Background: There is little known about women’s concurrent use of conventional and complementary health care during pregnancy, particularly consultation patterns with complementary and alternative medicine (CAM). This study examines health service utilisation among pregnant women including consultations with obstetricians, midwives, general practitioners (GPs) and CAM practitioners. Methods: […]

Utilisation of complementary and alternative medicine (CAM) practitioners within maternity ...