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Neurocase. 2014 Apr;20(2):150-7. doi: 10.1080/13554794.2012.741252. Epub 2012 Dec 5.

Brain ¹⁸F-FDG and ¹¹C-PiB PET findings in two siblings with FTD/ALS associated with the C9ORF72 repeat expansion.

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a Department of Neurology , University of Turku and Turku University Hospital , Turku , Finland.


The C9ORF72 hexanucleotide expansion is a major pathological expansion pattern found in patients with frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (C9FTD/ALS). We describe a patient in whom early clinical evaluation, MRI and fluorodeoxyglucose (FDG) positron emission tomography (PET) findings failed to definitively differentiate between FTD and Alzheimer's disease (AD), whereas (11)C-Pittsburgh compound B (PiB) PET was negative for amyloid pathology. He later developed ALS symptoms, and post mortem neuropathological findings were diagnostic of FTD-ALS, while no findings suggested AD. His sister was diagnosed with FTD, and the C9ORF72 expansion was detected in both siblings. We conclude that ¹¹C-PiB PET imaging may help the early differential diagnosis between AD and FTD, including C9FTD/ALS.

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