Frontotemporal dementia in a Brazilian kindred with the c9orf72 mutation.

ABSTRACT:

Objectives

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.

Design

Report of a kindred.

Setting

Dementia center at a university hospital.

Patients

One kindred encompassing 3 generations.

Results

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

SUBMITTER: Takada LT 

PROVIDER: S-EPMC3625641 | biostudies-literature | 2012 Sep

REPOSITORIES: biostudies-literature