OBJECTIVE To describe the characteristics of patients with amyotrophic lateral sclerosis (ALS) and myasthenia gravis (MG) overlap syndrome and explore the relationship between the two diseases. METHODS We conducted a search of medical records at Peking Union Medical University Hospital from 1983 to 2015 for coexistence of ALS and MG and searched the PubMed database for all literature describi...

Juvenile onset amyotrophic lateral sclerosis (ALS) is a very rare form of motor neuron disease, with the first symptoms of motor neuron degeneration manifested before 25 years of age. Juvenile ALS is more frequently familial in nature than the adult-onset forms. Mutations in the alsin (ALS2), senataxin (SETX), and Spatacsin (SPG11) have been associated with familial ALS with juvenile onset and ...

OBJECTIVE To determine whether GGGGCC (G4C2) repeat expansions at loci other than C9orf72 serve as common causes of amyotrophic lateral sclerosis (ALS). METHODS We assessed G4C2 repeat number in 28 genes near known ALS and frontotemporal dementia (FTD) loci by repeat-primed PCR coupled with fluorescent fragment analysis in 199 patients with ALS (17 familial, 182 sporadic) and 136 healthy cont...

Does Verbal Communication Impairment Affect Quality of Life in Amyotrophic Lateral Sclerosis Patients? The purpose of this study was to examine the selfperceived QOL in ALS patients. Literature will be presented on the incidence, prevalence, prognosis, diagnosis and management of ALS, QOL studies for ALS, the role of the multidisciplinary team, the impairments and dysfunction that ALS patients ...

Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease affecting the motor neurons of the brain and spinal cord causing progressive paralysis and death [1]. ALS patients develop progressive muscle weakness, atrophy, then paralysis and death within 3 to 5 years after the onset of the disease [1,2]. Close to 90% of all ALS cases are sporadic (SALS) while the other 10% represent famili...

Previously, we have reported amyotrophic lateral sclerosis (ALS) families with multiple mutations in major ALS-associated genes. These findings provided evidence for an oligogenic basis of ALS. In our present study, we screened a cohort of 755 sporadic ALS patients, 111 familial ALS patients (97 families), and 765 control subjects of Dutch descent for mutations in vesicle-associated membrane pr...

OBJECTIVE Affective lability is an important dimension of adult ADHD, associated with marked impairments and worse outcomes. A valid and quick tool to measure affective lability may therefore be of interest. METHOD In 187 adult ADHD patients, we explored psychometric properties of the Affective Lability Scale-Short Form (ALS-18 items). We analyzed the construct validity and the external valid...

Amyotrophic lateral sclerosis (ALS) is a progressive fatal multisystemic neurodegenerative disorder caused by preferential degeneration of upper and lower motor neurons. To further delineate the genetic architecture of the disease, we used comprehensive panel sequencing in a cohort of 80 German ALS patients. The panel covered 39 confirmed ALS genes and candidate genes, as well as 238 genes asso...

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease caused by degeneration of upper and lower motor neurons. To date, glycosylation patterns of glycoproteins in fluids of ALS patients have not been described. Moreover, the aberrant glycosylation related to the pathogenesis of other neurodegenerative diseases encouraged us to explore the glycome of ALS patient sera. We found...