• Lize C Jiskoot, Elise G P Dopper, HeijerTom denTdFrom the Departments of Neurology (L.C.J., E.G.P.D., T.d.H., J.C.v.S., J.M.P.), Epidemiology (T.d.H.), Psychiatry, Unit of Medical Psychology and Psychotherapy (R.T.), and Clinical Genetics (R.v.M.), Erasmus Medical Center, Rotterdam; Depar, Reinier Timman, Rick van Minkelen, John C van Swieten, and Janne M Papma.
• From the Departments of Neurology (L.C.J., E.G.P.D., T.d.H., J.C.v.S., J.M.P.), Epidemiology (T.d.H.), Psychiatry, Unit of Medical Psychology and Psychotherapy (R.T.), and Clinical Genetics (R.v.M.), Erasmus Medical Center, Rotterdam; Department of Radiology (L.C.J., E.G.P.D.), Leiden University Medical Center, Leiden; Departments of Neurology (E.G.P.D.) and Clinical Genetics (J.C.v.S.), VU Medical Center, Amsterdam; and Department of Neurology (T.d.H.), Sint Franciscus Gasthuis, Rotterdam, the Netherlands.
• Neurology. 2016 Jul 26; 87 (4): 384-91.

ObjectiveIn this prospective cohort study, we performed a 2-year follow-up study with neuropsychological assessment in the presymptomatic phase of familial frontotemporal dementia (FTD) due to GRN and MAPT mutations to explore the prognostic value of neuropsychological assessment in the earliest FTD disease stages.MethodsHealthy, at-risk, first-degree relatives of patients with FTD who had a MAPT (n = 13) or GRN mutation (n = 30) and healthy controls (n = 39) underwent neuropsychological assessment at baseline and 2-year follow-up. We investigated baseline and longitudinal differences, as well as relationship with age and estimated years before symptom onset.ResultsAt baseline, GRN mutation carriers showed lower scores on mental processing speed than healthy controls (p = 0.043). Two years later, MAPT mutation carriers showed a steeper decline than GRN mutation carriers on social cognition (p = 0.002). Older age was related to cognitive decline in visuoconstruction (p = 0.005) and social cognition (p = 0.026) in MAPT. Memory significantly declined from 8 to 6 years before estimated symptom onset in MAPT and GRN mutation carriers, respectively, and language and social cognition declined only in MAPT mutation carriers from 7 to 5 years before estimated symptom onset, respectively (p < 0.05).ConclusionsUsing longitudinal neuropsychological assessment, we detected gene-specific neuropsychological patterns of decline in, e.g., social cognition, memory, and visuoconstruction. Our results confirm the prognostic value of neuropsychological assessment as a potential clinical biomarker in the presymptomatic phase of familial FTD.© 2016 American Academy of Neurology.

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