Frontotemporal dementia due to C9ORF72 mutations: clinical and imaging features.

ABSTRACT:

Objective

To describe the phenotype of patients with C9FTD/ALS (C9ORF72) hexanucleotide repeat expansion.

Methods

A total of 648 patients with frontotemporal dementia (FTD)-related clinical diagnoses and Alzheimer disease (AD) dementia were tested for C9ORF72 expansion and 31 carried expanded repeats (C9+). Clinical and neuroimaging data were compared between C9+ (15 behavioral variant FTD [bvFTD], 11 FTD-motor neuron disease [MND], 5 amyotrophic lateral sclerosis [ALS]) and sporadic noncarriers (48 bvFTD, 19 FTD-MND, 6 ALS).

Results

All C9+ patients displayed clinical syndromes of bvFTD, ALS, or FTD-MND. At first evaluation, C9+ bvFTD patients had more delusions and greater impairment of working memory, but milder eating dysregulation compared to bvFTD noncarriers. C

SUBMITTER: Sha SJ 

PROVIDER: S-EPMC3430713 | biostudies-literature | 2012 Sep

REPOSITORIES: biostudies-literature