UNLABELLED Sporadic amyotrophic lateral sclerosis (sALS) is considered a multifactorial disease with genetic and environmental factors causing motor neuron degeneration. OBJECTIVE To describe the epidemiological and occupational characteristics of patients with sALS who attended the Ramos Mejía Hospital at Buenos Aires, Argentina. METHOD We analyzed the medical records of sALS patients diag...

BACKGROUND AND OBJECTIVE There is circumstantial evidence linking sporadic amyotrophic lateral sclerosis (ALS) cases to a malfunction or deficit of a multimeric SMN complex that scrutinizes cellular RNAs; the core of this complex is survival motor neuron (SMN, or gemin 1) protein. We intended to verify this hypothesis by comparing the expression of both SMN and several other functionally associ...

Amyotrophic lateral sclerosis is a neurodegenerative disease of motor neurons with a median survival of 2 years. Most patients have no family history of amyotrophic lateral sclerosis, but current understanding of such diseases suggests there should be an increased risk to relatives. Furthermore, it is a common question to be asked by patients and relatives in clinic. We therefore set out to det...

Amyotrophic lateral sclerosis (ALS) is an adultonset, rapidly progressive neurodegenerative disorder, caused by the selective loss of upper and lower motor neurons in the cerebral cortex, brainstem and spinal cord. Neuronal degeneration leads to weakness, muscular atrophy, and spasticity that evolve to paralysis. The typical age at onset is between 50 and 60 years, and the global incidence is 1...

PURPOSE The association between survivor motor neuron (SMN) gene deletion and spinal muscular atrophy suggests that sporadic amyotrophic lateral sclerosis (sALS) may be related to SMN deletion. We examined the association between the SMN genotype and susceptibility to and severity of sALS. MATERIALS AND METHODS We genotyped the copy number of SMN1 and SMN2 in 25 patients diagnosed with sporad...

The cause of sporadic amyotrophic lateral sclerosis (SALS) remains unknown. We attempted to find out if occupational exposure to toxicants plays a part in the pathogenesis of this disease. In an Australia-wide case-control study we compared the lifetime occupations of 611 SALS and 775 control individuals. Occupations were coded using country-specific as well as international classifications. Th...

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....

A common characteristic of familial (fALS) and sporadic amyotrophic lateral sclerosis (sALS) is the accumulation aberrant proteinaceous species in motor neurons spinal cord ALS patients—including aggregates human superoxide dismutase 1 (hSOD1). hSOD1 an enzyme that occurs as a stable dimeric protein with several post-translational modifications such formation intramolecular disulfide bond acqui...

Amyotrophic lateral sclerosis (ALS) is a terminal disease involving the progressive degeneration of motor neurons within the motor cortex, brainstem and spinal cord. Most cases are sporadic (sALS) with unknown causes suggesting that the etiology of sALS may not be limited to the genotype of patients, but may be influenced by exposure to environmental factors. Alterations in epigenetic modificat...