title: Brain ¹⁸F-FDG and ¹¹C-PiB PET findings in two siblings with FTD/ALS associated with the C9ORF72 repeat expansion.
abstract: 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.
authors.affiliation: a Department of Neurology , University of Turku and Turku University Hospital , Turku , Finland.
authors.forename: Mika H
authors.initials: MH
authors.lastname: Martikainen
authors.forename: Maria
authors.initials: M
authors.lastname: Gardberg
authors.forename: Lilja
authors.initials: L
authors.lastname: Jansson
authors.forename: Matias
authors.initials: M
authors.lastname: Röyttä
authors.forename: Juha O
authors.initials: JO
authors.lastname: Rinne
authors.forename: Valtteri
authors.initials: V
authors.lastname: Kaasinen
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology; D000814:Aniline Compounds; D001921:Brain / Q000000981:diagnostic imaging* / Q000473:pathology; D000073885:C9orf72 Protein; D042622:DNA Repeat Expansion; D003937:Diagnosis, Differential; D005260:Female; D019788:Fluorodeoxyglucose F18; D057180:Frontotemporal Dementia / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D009474:Neurons / Q000473:pathology; D049268:Positron-Emission Tomography; D011506:Proteins / Q000235:genetics*; D035781:Siblings; D013844:Thiazoles
chemical_list: C475519:2-(4'-(methylamino)phenyl)-6-hydroxybenzothiazole; D000814:Aniline Compounds; D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; D011506:Proteins; D013844:Thiazoles; D019788:Fluorodeoxyglucose F18