Frontotemporal dementia (FTD) and/or amyotrophic lateral sclerosis (ALS) is an autosomal dominant neurodegenerative disorder characterized by adult onset of one or both of these features in an affected individual, with significant intrafamilial variation. The disorder is genetically and pathologically heterogeneous. Patients with C9ORF72 repeat expansions 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. Patients with C9ORF72 repeat expansions also show psychiatric disturbances that may predate the onset of dementia.
Dementia, Amyotrophic Lateral Sclerosis
Confirmation of a clinical diagnosis, Carrier testing in unaffected family members