To describe the clinical features of a Brazilian kindred with C9orf72 frontotemporal dementia–amyotrophic lateral sclerosis and compare them with other described families with C9orf72 and frontotemporal dementia–amyotrophic lateral sclerosis–causing mutations.
Report of a kindred.
Dementia center at a university hospital.
One kindred encompassing 3 generations.
The presence of a hexanucleotide (GGGGCC) expansion in C9orf72 was confirmed by repeat-primed polymerase chain reaction and Southern blot. The observed phenotypes were behavioral variant frontotemporal dementia and amyotrophic lateral sclerosis with dementia, with significant variability in age at onset and duration of disease. Parkinsonian features with focal dystonia, visual hallucinations, and more posterior atrophy on neuroimaging than is typical for frontotemporal dementia were seen.
Behavioral variant frontotemporal dementia due to C9orf72 expansion displays some phenotypic heterogeneity and may be associated with hallucinations, parkinsonism, focal dystonia, and posterior brain atrophy. Personality changes may precede the diagnosis of dementia by many years and may be a distinguishing feature of this mutation.