Symbol
| ALS14
|
Location
| 9p13.3
|
Name
|
amyotrophic lateral sclerosis 14, with or without frontotemporal dementia |
Corresponding gene
|
VCP
|
Main clinical features
|
fatal neurodegenerative disease characterized by upper and lower motor neuron dysfunction resulting in rapidly progressive paralysis and death from respiratory failure
may be associated with frontotemporal dementia (FTD) |
Genetic determination
| autosomal dominant |
Prevalence
| VCP mutations arise in approximately 1.5p 100 of FALS cases (PMID: 23152587)
|
Function/system disorder
| neuromuscular |
Type
| disease
|