BACKGROUND AND PURPOSE There is an emerging need for biomarkers to better categorize clinical phenotypes and predict progression in amyotrophic lateral sclerosis. This study aimed to quantify cervical spinal gray matter atrophy in amyotrophic lateral sclerosis and investigate its association with clinical disability at baseline and after 1 year. MATERIALS AND METHODS Twenty-nine patients with...

Introduction and clinical pathology of Amyotrophic Lateral Sclerosis (ALS) Amyotrophic Lateral Sclerosis (ALS) also known as Lou Gehrig's disease is the generic name for progressive muscular atrophy and bulbar palsy. It refers to all disorders of the cortico spinal pathways which are characterized by progressive muscle weakness. After multiple sclerosis, ALS is the most common purely neurologic...

background: amyotrophic lateral sclerosis (als) is the most common motor neuron disorder in european populations. als can be sporadic als (sals) or familial als (fals). among 20 known als genes, mutations in c9orf72 and superoxide dismutase 1 (sod1) are the most common genetic causes of the disease. whereas c9orf72 mutations are more common in western populations, the contribution of sod1 to al...

Tar DNA-binding protein 43 (TDP-43) is an RNA-binding protein normally localized to the nucleus of cells, where it elicits functions related to RNA metabolism such as transcriptional regulation and alternative splicing. In amyotrophic lateral sclerosis, TDP-43 is mislocalized from the nucleus to the cytoplasm of diseased motor neurons, forming ubiquitinated inclusions. Although mutations in the...

Amyotrophic lateral sclerosis is a devastating, progressive neurodegenerative disease that affects upper and lower motor neurons. Although several genes are identified as the cause of familial cases, the pathogeneses of sporadic forms, which account for 90% of amyotrophic lateral sclerosis, have not been elucidated. Transactive response DNA-binding protein 43 a nuclear protein regulating RNA pr...

BACKGROUND Bullous pemphigoid (BP) occurs in many patients with multiple sclerosis. Isolated cases of BP in patients with other neurological disorders further support a pathogenic association between cutaneous and neurological diseases. Any description of BP in patients with amyotrophic lateral sclerosis is lacking. OBSERVATIONS We studied a French population of 168 patients with typical amyo...

Paired cerebrospinal fluid and serum samples of patients with amyotrophic lateral sclerosis (n = 35) revealed no consistent abnormalities of CSF cell count, CSF albumin, CSF IgG, CSF IgM, IgG or IgM index, or oligoclonal immunoglobulin band formation in the CSF. Determination of IgG and IgM CSF and serum antibodies to gangliosides GM1, GM2, GM3, AGM1, GD1a, GD1b, and GT1b showed a characteristi...

Background: the main objective of this study was to analyze potential short-, medium- and long-term effects a therapeutic physical exercise (TFE) programme on functionality amyotrophic lateral sclerosis (ALS) patients, measured with Revised Amyotrophic Lateral Sclerosis Functional Scale (ALSFRS-R) scale. Methods: systematic review PubMed, SCOPUS, Cochrane, Scientific Electronic Library Online (...