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Martikainen, Mika H.; Gardberg, Maria; Jansson, Lilja; Röyttä, Matias; Rinne, Juha O.; Kaasinen, Valtteri
Neurocase, 20/3/4/, Letnik: 20, Številka: 2Report
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 11 C-PiB PET imaging may help the early differential diagnosis between AD and FTD, including C9FTD/ALS.
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in: SICRIS
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