Publications

Publications

The GENFI investigators have now published a number of papers on clinical, cognitive, imaging, and fluid biomarker measures in genetic FTD.

  1. Rohrer JD, Nicholas JM, Cash DM, et al. Presymptomatic cognitive and neuroanatomical changes in genetic frontotemporal dementia in the GENFI study: cross-sectional analysis of baseline data. Lancet Neurol 2015;14(3):253-62.
  2. Meeter LH, Dopper EG, Jiskoot LC, et al. Neurofilament light chain: a biomarker for genetic frontotemporal dementia. Ann Clin Transl Neurol. 2016;3(8):623–636.
  3. Sudre CH, Bocchetta M, Cash D, et al. White matter hyperintensities are seen only in GRN mutation carriers in the GENFI cohort. Neuroimage Clin. 2017;15:171-180.
  4. Premi E, Grassi M, van Swieten J, et al. Cognitive reserve and TMEM106B genotype modulate brain damage in presymptomatic frontotemporal dementia: a GENFI study. Brain. 2017;140(6):1784–1791.
  5. Cash DM, Bocchetta M, Thomas DL, et al. Patterns of gray matter atrophy in genetic frontotemporal dementia: results from the GENFI study. Neurobiol Aging. 2018;62:191–196.
  6. Galimberti D, Fumagalli GG, Fenoglio C, et al. Progranulin plasma levels predict the presence of GRN mutations in asymptomatic subjects and do not correlate with brain atrophy: results from the GENFI study. Neurobiol Aging. 2018;62:245.
  7. Schneider R, McKeever P, Kim T, et al. Downregulation of exosomal miR-204-5p and miR-632 as a biomarker for FTD: a GENFI study. J Neurol Neurosurg Psychiatry. 2018;89(8):851–858.
  8. Mutsaerts HJMM, Petr J, Thomas DL, et al. Comparison of arterial spin labeling registration strategies in the multi-center GENetic frontotemporal dementia initiative (GENFI). J Magn Reson Imaging. 2018;47(1):131-140.
  9. Meeter LHH, Gendron TF, Sias AC, et al. Poly(GP), neurofilament and grey matter deficits in C9orf72 expansion carriers. Ann Clin Transl Neurol. 2018;5(5):583–597.
  10. Fumagalli GG, Basilico P, Arighi A, et al. Distinct patterns of brain atrophy in Genetic Frontotemporal Dementia Initiative (GENFI) cohort revealed by visual rating scales. Alzheimers Res Ther. 2018;10(1):46.
  11. Jiskoot LC, Bocchetta M, Nicholas JM, et al. Presymptomatic white matter integrity loss in familial frontotemporal dementia in the GENFI cohort: A cross-sectional diffusion tensor imaging study. Ann Clin Transl Neurol. 2018;5(9):1025–1036.
  12. Sellami L, Bocchetta M, Masellis M, et al. Distinct Neuroanatomical Correlates of Neuropsychiatric Symptoms in the Three Main Forms of Genetic Frontotemporal Dementia in the GENFI Cohort. J Alzheimers Dis. 2018;65(1):147–163.
  13. Young AL, Marinescu RV, Oxtoby NP, et al. Uncovering the heterogeneity and temporal complexity of neurodegenerative diseases with Subtype and Stage Inference. Nat Commun. 2018;9(1):4273.
  14. Cury C, Durrleman S, Cash DM, et al. Spatiotemporal analysis for detection of pre-symptomatic shape changes in neurodegenerative diseases: Initial application to the GENFI cohort. Neuroimage. 2019;188:282–290.
  15. Rittman T, Borchert R, Jones S, et al. Functional network resilience to pathology in presymptomatic genetic frontotemporal dementia. Neurobiol Aging. 2019;77:169–177.
  16. Premi E, Calhoun VD, Diano M, et al. The inner fluctuations of the brain in presymptomatic Frontotemporal Dementia: The chronnectome fingerprint. Neuroimage. 2019;189:645-654.
  17. Mutsaerts HJMM, Mirza SS, Petr J, et al. Cerebral perfusion changes in presymptomatic genetic frontotemporal dementia: a GENFI study. Brain. 2019;142(4):1108–1120.
  18. Gazzina S, Grassi M, Premi E, et al. Education modulates brain maintenance in presymptomatic frontotemporal dementia. J Neurol Neurosurg Psychiatry. 2019;90(10):1124-1130.
  19. Tavares TP, Mitchell DGV, Coleman K et al. Ventricular volume expansion in presymptomatic genetic frontotemporal dementia. Neurology. 2019;93(18):e1699-e1706.
  20. van der Ende EL, Meeter LH, Poos JM et al. Serum neurofilament light chain in genetic frontotemporal dementia: a longitudinal, multicentre cohort study. Lancet Neurol. 2019;18(12):1103-1111.
  21. Sudre CH, Bocchetta M, Heller C et al. White matter hyperintensities in progranulin-associated frontotemporal dementia: A longitudinal GENFI study. Neuroimage Clin. 2019;24:102077.
  22. Heller C, Foiani M, Moore KM et al. Plasma glial fibrillary acidic protein is raised in progranulin-associated frontotemporal dementia. J Neurol Neurosurg Psychiatry. 2020;91(3):263-270.
  23. Moore KM, Convery R, Bocchetta M et al. A modified Camel and Cactus Test detects presymptomatic semantic impairment in genetic frontotemporal dementia within the GENFI cohort. Appl Neuropsychol Adult. 2020:1-8.
  24. van der Ende EL, Xiao M, Xu D et al. Neuronal pentraxin 2: a synapse-derived CSF biomarker in genetic frontotemporal dementia. J Neurol Neurosurg Psychiatry. 2020;91(6):612-621.
  25. Le Blanc G, Jetté Pomerleau V, McCarthy J et al. Faster Cortical Thinning and Surface Area Loss in Presymptomatic and Symptomatic C9orf72 Repeat Expansion Adult Carriers. Ann Neurol. 2020;88(1):113-122.
  26. Tavares TP, Mitchell DGV, Coleman K et al. Early symptoms in symptomatic and preclinical genetic frontotemporal lobar degeneration. J Neurol Neurosurg Psychiatry. 2020;91(9):975-984.
  27. Convery RS, Bocchetta M, Greaves CV et al. Abnormal pain perception is associated with thalamo-cortico-striatal atrophy in C9orf72 expansion carriers in the GENFI cohort. J Neurol Neurosurg Psychiatry. 2020;91(12):1325-1328
  28. Altmann A, Cash DM, Bocchetta M et al. Analysis of brain atrophy and local gene expression in genetic frontotemporal dementia. Brain Commun. 2020 2020;2(2):fcaa122.
  29. Tsvetanov KA, Gazzina S, Jones PS et al. Brain functional network integrity sustains cognitive function despite atrophy in presymptomatic genetic frontotemporal dementia. Alzheimer’s & Dementia. 2020 [Epub ahead of print].
  30. Russell LL, Greaves CV, Bocchetta M et al. Social cognition impairment in genetic frontotemporal dementia within the GENFI cohort. Cortex. 2020 [Epub ahead of print].
  31. Benussi A, Premi E, Gazzina S et al. Progression of behavioural disturbances and neuropsychiatric symptoms in genetic frontotemporal dementia. JAMA Network Open. 2020 [In press].
  32. Malpetti M, Jones PS, Tsvetanov KA et al. Apathy in pre-symptomatic genetic frontotemporal dementia predicts cognitive decline and is driven by structural brain changes. Alzheimer’s & Dementia. 2020 [In press].
  33. Panman JL, Venkatraghavan V, van der Ende EL et al. Modelling the cascade of biomarker changes in GRN related frontotemporal dementia. J Neurol Neurosurg Psychiatry. 2020 [In press].

We have also published a number of papers using data from GENFI as part of the FTD Prevention Initiative. See list of FPI publications here.