Details

Autor(en) / Beteiligte

• Sha, Sharon J
• Takada, Leonel T
• Rankin, Katherine P
• Yokoyama, Jennifer S
• Rutherford, Nicola J
• Fong, Jamie C
• Khan, Baber
• Karydas, Anna
• Baker, Matt C
• DeJesus-Hernandez, Mariely
• Pribadi, Mochtar
• Coppola, Giovanni
• Geschwind, Daniel H
• Rademakers, Rosa
• Lee, Suzee E
• Seeley, William
• Miller, Bruce L
• Boxer, Adam L

Titel

Frontotemporal dementia due to C9ORF72 mutations: clinical and imaging features

Ist Teil von

• Neurology, 2012-09, Vol.79 (10), p.1002

Ort / Verlag

United States

Erscheinungsjahr

2012

Quelle

MEDLINE

Beschreibungen/Notizen

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