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O2‐14‐06: DIFFERENCES BETWEEN SPORADIC AND FAMILIAL BEHAVIORAL VARIANT FTD IN ADVANCING RESEARCH AND TREATMENT FOR FTLD (ARTFL) CLINICAL RESEARCH CONSORTIUM
Author(s) -
Boxer Adam L.,
Heuer Hilary W.,
Wang Ping,
Rascovsky Katya,
Rosen Howard J.,
Boeve Bradley F.,
Grossman Murray,
Coppola Giovanni,
Dickerson Brad C.,
Bordelon Yvette M.,
Kimiko Domoto-Reilly,
Faber Kelley,
Feldman Howard H.,
Fields Julie A.,
Fong Jamie,
Foroud Tatiana M.,
Ghoshal Nupur,
Graff-Radford Neil R.,
Robin Hsiung Ging-Yuek,
Huey Edward D.,
Irwin David,
Kantarci Kejal,
Kaufer Daniel,
Karydas Anna M.,
Kerwin Diana R.,
Knopman David S.,
Kornak John,
Kramer Joel H.,
Kukull Walter A.,
Litvan Irene,
Lungu Codrin,
Mackenzie Ian R.,
Mendez Mario F.,
Miller Bruce L.,
Onyike Chiadi U.,
Pantelyat Alex,
Rademakers Rosa,
Roberson Erik D.,
Sutherland Marg,
Tartaglia Maria Carmela,
Toga Arthur W.,
Weintraub Sandra,
Rogalski Emily J.,
Wszolek Zbigniew
Publication year - 2018
Publication title -
alzheimer's and dementia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 6.713
H-Index - 118
eISSN - 1552-5279
pISSN - 1552-5260
DOI - 10.1016/j.jalz.2018.06.2723
Subject(s) - frontotemporal dementia , c9orf72 , frontotemporal lobar degeneration , medicine , dementia , neuropsychology , clinical trial , disease , pediatrics , psychiatry , cognition
psychiatric disorders with similar clinical presentations. Methods: We conducted a multi-center naturalistic follow-up study. We included subjects aged 45-75 years presenting with a frontal lobe syndrome, consisting of apathy, disinhibition, and/or compulsive behavior. All participants underwent extensive neuropsychiatric phenotyping, MRI of the brain, [18F]FDG-PET, and CSF biomarker analysis. Genetic analysis was performed when appropriate and in the majority of patients C9orf72 status was investigated. Results:We included 137 subjects. After 2 years of follow-up, data were available of 105 patients. The diagnostic distribution was bvFTD (34 (32%); 30 probable, 4 definite); psychiatric disorders (43 (41%)), and other neurological disorders (28 (27%)). All subjects with a diagnosis of possible bvFTD at baseline (n1⁄45) received a psychiatric diagnosis at follow-up. Depression was the most prevalent psychiatric disorder. Contributing clinical features were stereotyped behavior and disinhibition in favor of bvFTD; and a history of psychiatric disorder, male gender, depressed mood and nervousness in favor of a psychiatric disorder. The Ekman Faces Test successfully discriminated bvFTD from both other groups. MRI had a sensitivity of 70% and specificity of 93% for bvFTD. [18F]FDG-PET, which was performed when MRI was normal or inconclusive, had a sensitivity of 90%, but a specificity of only 68% for bvFTD. The relatively high rate of false-positive bvFTD diagnoses at baseline was partly attributable to false-positive [18F]FDG-PET scans. Combined CSF neurofilament light chain, YKL40, and P-tau/tau ratio had a high diagnostic accuracy to discriminate bvFTD from psychiatric disorders (AUC 0.94). Genetic mutation carriers more often had atypical additional investigations.Conclusions:Our study shows that an abnormal [18F] FDG-PET should be interpreted with caution in the differential diagnosis of the late-onset frontal lobe syndrome, whereas additional CSF biomarkers might be helpful in case of doubt during the diagnostic process. Our findings stress the need for an adapted diagnostic paradigm for bvFTD.