Mutations in the optineurin (OPTN) gene cause amyotrophic lateral sclerosis (ALS). We previously reported three types of OPTN mutation in Japanese ALS subjects. Here, to identify the OPTN mutations in individuals of different ethnicity, we screened 563 sporadic ALS (SALS) subjects and 124 familial ALS (FALS) subjects who were mainly Caucasian. We found a c.964T>C synonymous variation in exon 8....

Transcriptional regulators and neurotrophic factors in the pathogenesis of Amyotrophic Lateral Sclerosis (ALS) Histopathological and biochemical studies in the G93A ALS mouse model and in ALS post mortem tissue THESIS submitted in partial fulfillment of the requirements for the degree-Doctor rerum naturalium-Parts of the thesis have been published or submitted previously in: milder impairment o...

PROBLEM/CONDITION Amyotrophic lateral sclerosis (ALS), commonly known as Lou Gehrig's disease, is a progressive and fatal neuromuscular disease for which no cure or viable treatment has been identified. ALS, like most noncommunicable diseases, is not a nationally notifiable disease in the United States. The prevalence of ALS in the United States during 2010-2011 was estimated to be 3.9 cases pe...

BACKGROUND Amyotrophic lateral sclerosis (ALS) is an incurable neurodegenerative disease that dramatically affects patients' quality of life (QoL) and dignity of life (DoL). We aimed to study the impact of ALS on QoL and DoL and how these evolve throughout the duration of the disease. METHODS First, we performed an observational, descriptive study of 43 patients with ALS recruited from the AL...

OBJECTIVE To determine the extent of an inherited contribution to amyotrophic lateral sclerosis (ALS) mortality. METHODS Death certificates (DCs) from 1904 to 2009 were analyzed from patients with at least 3 generations recorded in the Utah Population Database, a genealogic and medical database of more than 2 million Utah residents. Among probands whose DCs listed ALS, the relative risk (RR) ...

IMPORTANCE Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease in which microglia play a significant and active role. Recently, a rare missense variant (p.R47H) in the microglial activating gene TREM2 was found to increase the risk of several neurodegenerative diseases, including Alzheimer disease. Whether the p.R47H variant is a risk factor for ALS is not known. OBJECTIV...

BACKGROUND The homogeneous genotype and stereotyped phenotype of a unique familial form of amyotrophic lateral sclerosis (ALS) (patients homozygous for aspartate-to-alanine mutations in codon 90 (homD90A) superoxide dismutase 1) provides an ideal model for studying genotype/phenotype interactions and pathological features compared with heterogeneous apparently sporadic ALS. The authors aimed to...

Amyotrophic lateral sclerosis (ALS) is an adult-onset disease characterized by the selective degeneration of motor neurons in the brain and spinal cord progressively leading to paralysis and death. Current diagnosis of ALS is based on clinical assessment of related symptoms. The clinical manifestations observed in ALS appear relatively late in the disease course after degeneration of a signific...

PURPOSE The Kii Peninsula of Japan, together with Guam and West New Guines, has one of the highest incidences of amyotrophic lateral sclerosis (Kii ALS) in the world. There is a controversy whether the etiology is the same or not between sporadic ALS and Kii ALS. Skin studies from patients with sporadic ALS have shown unique pathological and biochemical abnormalities. However, there has been no...