Unknown

Dataset Information

0

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. C9+FTD-MND patients had a trend for longer survival and had an earlier age at onset than FTD-MND noncarriers. Voxel-based morphometry demonstrated more thalamic atrophy in FTD and FTD-MND carriers than in noncarriers.

Conclusions

Patients with the C9ORF72 hexanucleotide repeat expansion develop bvFTD, ALS, or FTD-MND with similar clinical and imaging features to sporadic cases. Other FTD spectrum diagnoses and AD dementia appear rare or absent among C9+ individuals. Longer survival in C9+ FTD-MND suggests slower disease progression and thalamic atrophy represents a novel and unexpected feature.

SUBMITTER: Sha SJ 

PROVIDER: S-EPMC3430713 | biostudies-literature |

REPOSITORIES: biostudies-literature

Similar Datasets

| S-EPMC3286329 | biostudies-literature
| S-EPMC3580395 | biostudies-literature
| S-EPMC4145454 | biostudies-literature
| S-EPMC3286328 | biostudies-literature
| S-EPMC5790143 | biostudies-literature
| S-EPMC3430710 | biostudies-literature
| S-EPMC3753484 | biostudies-other
| S-EPMC10041703 | biostudies-literature
| S-EPMC6186940 | biostudies-literature
| S-EPMC3944829 | biostudies-literature