Als2: Proteins and Enzymes

Defects in ALS2, or Alsin, are the cause of amyotrophic lateral sclerosis 2 (ALS2), juvenile primary lateral sclerosis (JPLS), and infantile-onset ascending spastic paralysis (IAHSP). ALS2 is a neurodegenerative disorder which is closely related to but clinically distinct from juvenile primary lateral sclerosis. It is a progressive paralytic disorder which results from dysfunction of the motor systems comprising the upper motor neurons of the motor cortex and lower motor neurons of the brain stem and spinal cord. JPLS is a neurodegenerative disorder which is closely related to but clinically distinct from amyotrophic lateral sclerosis. It is a progressive paralytic disorder which results from dysfunction of the upper motor neurons of the motor cortex while the lower neurons are unaffected. IAHSP is characterized by progressive spasticity and weakness of limbs.