amyotrophic lateral sclerosis 16—juvenile
A genetic form (OMIM:614373) of amyotrophic lateral sclerosis*
*A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent.
Aetiology Probably multifactorial, involving both genetic and environmental factors. It is inherited in 5-10% of cases.
Pathology Pallor of corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions in surviving motor neurons, and deposition of pathologic aggregates.
Molecular pathology Defects of SIGMAR1, which encodes a multifunctional receptor protein that plays role in the endocrine, immune, and nervous systems, cause amyotrophic lateral sclerosis 16—juvenile.