Frontotemporal Dementia With Motor Neuron Disease [Supplementary Concept]
An autosomal dominant neurodegenerative disorder caused by hexanucleotide repeat expansion (GGGGCC) in a noncoding region of the C9ORF72 gene. It is characterized by adult onset of frontotemporal dementia or ALS in an affected individual, with significant intrafamilial variation. Patients tend to show a lower age of onset, shorter survival, bulbar symptom onset, increased incidence of neurodegenerative disease in relatives, and a propensity toward psychosis or hallucinations compared to patients with other forms of ALS and/or FTD. Psychiatric disturbances may also predate the onset of dementia. OMIM: 105550
Date introduced: November 5, 2012
MeSH Unique ID: C566288
Heading Mapped to:
Entry Terms:
- Amyotrophic Lateral Sclerosis And-Or Frontotemporal Dementia
- Frontotemporal Dementia-Amyotrophic Lateral Sclerosis
- FTDMND
- FTDALS
- ALSFTD