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• W2043533588 abstract "<h3>Objective:</h3> To describe the phenotype of patients with <i>C9FTD/ALS</i> (<i>C9ORF72</i>) hexanucleotide repeat expansion. <h3>Methods:</h3> A total of 648 patients with frontotemporal dementia (FTD)–related clinical diagnoses and Alzheimer disease (AD) dementia were tested for <i>C9ORF72</i> 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). <h3>Results:</h3> 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. <h3>Conclusions:</h3> Patients with the <i>C9ORF72</i> 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." @default.
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• W2043533588 date "2012-08-08" @default.
• W2043533588 modified "2023-10-18" @default.
• W2043533588 title "Frontotemporal dementia due to C9ORF72 mutations: Clinical and imaging features" @default.
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• W2043533588 doi "https://doi.org/10.1212/wnl.0b013e318268452e" @default.
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