Ontology highlight
ABSTRACT:
SUBMITTER: Leblond CS
PROVIDER: S-EPMC4830191 | biostudies-literature | 2016 Apr
REPOSITORIES: biostudies-literature
Leblond Claire S CS Webber Alina A Gan-Or Ziv Z Moore Fraser F Dagher Alain A Dion Patrick A PA Rouleau Guy A GA
Neurology. Genetics 20160310 2
Juvenile amyotrophic lateral sclerosis (jALS) is characterized by progressive upper and lower motor neuron degeneration leading to facial muscle spasticity, spastic dysarthria, and spastic gait with an early onset (before 25 years old). Unlike adult-onset amyotrophic lateral sclerosis (ALS), patients with jALS tend to have slower progression of motor neuron disease and prolonged survival to a normal life expectancy. Mutations in FUS gene have been reported in jALS,(1) including p.P525L mutation ...[more]