amyotrophic lateral sclerosis type 14
amyotrophic lateral sclerosis type 14A hereditary neurodegenerative disorder (OMIM:613954) which affects upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in frontotemporal dementia and fatal paralysis; sensory abnormalities are absent.
Pallor of the corticospinal tract due to loss of motor neurons, ubiquitin-positive inclusions in surviving motor neurons and deposition of pathologic aggregates.
Defects of VCP, which encodes a putative ATP-binding protein involved in vesicle transport and mitotic events, cause amyotrophic lateral sclerosis type 14.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.