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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. 2022;29(1):112-119.
  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;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. 2021;17(3):500-514.
  30. Russell LL, Greaves CV, Bocchetta M et al. Social cognition impairment in genetic frontotemporal dementia within the GENFI cohort. Cortex. 2020;133:384-398.
  31. Malpetti M, Jones PS, Tsvetanov KA et al. Apathy in presymptomatic genetic frontotemporal dementia predicts cognitive decline and is driven by structural brain changes. Alzheimer’s & Dementia. 2020;17(6):969-983.
  32. Benussi A, Premi E, Gazzina S et al. Progression of behavioural disturbances and neuropsychiatric symptoms in genetic frontotemporal dementia. JAMA Network Open. 2021;4(1):e2030194.
  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. 2021;92(5):494-501.
  34. Borrego-Écija S, Sala-Llonch R, van Swieten J et al. Disease-related cortical thinning in presymptomatic granulin mutation carriers. Neuroimage Clin. 2020;29:102540.
  35. Manera AL, Dadar M, van Swieten J et al. MRI data-driven algorithm for the diagnosis of behavioral variant frontotemporal dementia. J Neurol Neurosurg Psychiatry. 2021 [Epub ahead of print].
  36. Poos JM, Russell LL, Peakman G et al. Impairment of episodic memory in genetic frontotemporal dementia: a GENFI study. Alzheimers Dement (Amst). 2021;13(1):e12185.
  37. Bocchetta M, Todd E, Peakman G et al. Differential early subcortical involvement in genetic FTD within the GENFI cohort. Neuroimage Clin. 2021;30:102646.
  38. Young AL, Bocchetta M, Russell LL et al. Characterizing the Clinical Features and Atrophy Patterns of MAPT-Related Frontotemporal Dementia With Disease Progression Modeling. Neurology. 2021;97(9):e941-e952.
  39. Franklin HD, Russell LL, Peakman G et al. The Revised Self-Monitoring Scale detects early impairment of social cognition in genetic frontotemporal dementia within the GENFI cohort. Alzheimers Res Ther. 2021;13(1):127.
  40. Peakman G, Russell LL, Convery RS et al. Comparison of clinical rating scales in genetic frontotemporal dementia within the GENFI cohort. J Neurol Neurosurg Psychiatry. 2022;93(2):158-168
  41. Öijerstedt L, Andersson C, Jelic V et al. Practice effects in genetic frontotemporal dementia and at-risk individuals: a GENFI study. J Neurol Neurosurg Psychiatry. 2022;93(3):336-339.
  42. Premi E, Giunta M, Iraji A et al. Dissemination in time and space in presymptomatic granulin mutation carriers: a spatial chronnectome study.  Neurobiol Aging. 2021;108:155-167.
  43. van der Ende EL, Bron EE, Poos JM et al. A data-driven disease progression model of fluid biomarkers in genetic frontotemporal dementia. Brain. 2022;145(5):1805-1817.
  44. Benussi A, Alberici A, Samra K et al. Conceptual framework for the definition of preclinical and prodromal frontotemporal dementia. Alzheimers Dement. 2022;18(7):1408-1423.
  45. Wilke C, Reich S, van Swieten J et al. Stratifying presymptomatic genetic frontotemporal dementia by serum NfL and pNfH. Ann Neurol. 2022;91(1):33-47.
  46. Bergström S, Öijerstedt L, Remnestål J et al. A panel of CSF proteins separates genetic frontotemporal dementia from presymptomatic mutation carriers: a GENFI study. Mol Neurodegener. 2021;16(1):79.
  47. McCarthy J, Borroni B, Sanchez-Valle R et al. Data-driven staging of genetic frontotemporal dementia using multi-modal MRI. Hum Brain Mapp. 2022;43(6):1821-1835.
  48. Premi E, Costa T, Gazzina S et al. An automated toolbox to predict single subject atrophy in presymptomatic granulin mutation carriers. J Alzheimers Dis. 2022;86(1):205-218.
  49. Poos J, Moore KM, Nicholas J et al. Cognitive composites for genetic frontotemporal dementia: GENFI-Cog. Alzheimers Res Ther. 2022;14(1):10.
  50. Foster P, Russell LL, Peakman G et al. Examining empathy deficits across familial forms of frontotemporal dementia within the GENFI cohort. Cortex. 2022;150:12-28
  51. Shafiei G, Bazinet V, Dadar M et al. Network structure and transcriptomic vulnerability shape atrophy in frontotemporal dementia. Brain. 2023;146(1):321-336.
  52. Gazzina S, Grassi M, Premi E et al. Structural brain splitting is a hallmark of conversion to granulin-related frontotemporal dementia. Neurobiol Aging. 2022:S0197-4580(22)00030-6.
  53. Nelson A, Russell LL, Peakman G et al. The Cambridge Behavioural Inventory detects early behavioural impairment in genetic frontotemporal dementia within the GENFI cohort. Ann Clin Transl Neurol. 2022; 9(5): 644–658.
  54. Poos JM, MacDougall A, van den Berg E et al. Longitudinal cognitive changes in genetic frontotemporal dementia within the GENFI cohort. Neurology. 2022;99(3):e281-95.
  55. Wilson KM, Katona E, Glaria I et al. Development of a sensitive trial-ready poly(GP) CSF biomarker assay for C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry. 2022;93(7):761-771.
  56. Bouzigues A, Russell LL, Peakman G et al. Anomia is present presymptomatically in frontotemporal dementia due to MAPT mutations. J Neurol. 2022;269(8):4322-4332.
  57. Schönecker S, Martinez-Murcia FJ, Rauchmann B-S et al. Frequency and longitudinal course of motor signs in genetic frontotemporal dementia. Neurology. 2022;99(10):e1032-44.
  58. Bruffaerts R, Gors D, Bárcenas Gallardo A et al. Hierarchical spectral clustering reveals brain size and shape changes in asymptomatic carriers of C9orf72. Brain Commun. 2022;4(4):fcac182.
  59. Sogorb-Esteve A, Nilsson J, Swift IJ et al. Differential impairment of cerebrospinal fluid synaptic biomarkers in the genetic forms of frontotemporal dementia. Alzheimers Res Ther. 2022;14(1):118.
  60. van der Ende EL, Heller C, Sogorb-Esteve A et al. Elevated CSF and plasma complement proteins in genetic frontotemporal dementia: results from the GENFI study. J Neuroinflamm. 2022;19(1):217.
  61. Woollacott IOC, Swift IJ, Sogorb-Esteve A et al. CSF glial markers are elevated in a subset of patients with genetic frontotemporal dementia. Ann Clin Transl Neurol. 2022;9(11):1764-1777.
  62. Whiteside D, Malpetti M, Jones PS et al. Temporal dynamics predict symptom onset and cognitive decline in familial frontotemporal dementia. Alzheimers Dement. 2023;19(5):1947-1962.
  63. Samra K, MacDougall AM, Bouzigues A et al. Genetic forms of primary progressive aphasia within the GENFI cohort – comparison with sporadic primary progressive aphasia. Brain Commun. 2023;5(2):fcad036.
  64. Finger E, Malik R, Bocchetta M et al. Neurodevelopmental effects of genetic frontotemporal dementia in young adult mutation carriers. Brain. 2023;146(5):2120-2131.
  65. Pérez-Millan A, Borrego-Écija S, van Swieten JC et al. Loss of brainstem white matter predicts onset and motor neuron symptoms in C9orf72 expansion carriers: a GENFI study. J Neurol. 2023;270(3):1573-1586.
  66. Samra K, MacDougall AM, Peakman G et al. Motor symptoms in genetic frontotemporal dementia – developing a new module for clinical rating scales. J Neurol. 2023;270(3):1466-1477.
  67. Bocchetta M, Todd EG, Bouzigues A et al. Structural MRI predicts clinical progression in presymptomatic FTD: findings from the GENFI cohort. Brain Commun. 2023;5(2):fcad061.
  68. Samra K, MacDougall AM, Bouzigues A et al. Language impairment in the genetic forms of behavioural variant frontotemporal dementia. J Neurol. 2023;270(4):1976-1988.
  69. Samra K, MacDougall AM, Peakman G et al. Neuropsychiatric symptoms in genetic frontotemporal dementia – developing a new module for clinical rating scales. J Neurol Neurosurg Psychiatry. 2023;94(5):357-368.
  70. Bussy A, Levy J, Best T et al. Cerebellar and subcortical atrophy contribute to psychiatric symptoms in frontotemporal dementia. Hum Brain Mapp. 2023;44(7):2684-2700.
  71. Jiskoot LC, Russell LL, Bocchetta M et al. The Benson Complex Figure Test detects deficits in visuoconstruction and visual memory in symptomatic familial frontotemporal dementia: a GENFI study. J Neurol Sci. 2023;446:120590.
  72. Premi E, Pengo M, Mattioli I et al. Early neurotransmitters changes in prodromal Frontotemporal Dementia: a GENFI study. Neurobiol Dis. 2023;179:106068.
  73. Samra K, MacDougall AM, Bouzigues A et al. Prodromal language impairment in genetic frontotemporal dementia within the GENFI cohort. J Neurol Sci. 2023;451:120711.
  74. Ullgren A, Öijerstedt L, Olofsson J et al. Altered plasma protein profiles in genetic FTD – a GENFI study. Mol Neurodegener. 2023;18(1):85.
  75. Linnemann C, Wilke C, Mengel D et al. NfL reliability across laboratories, stage-dependent diagnostic performance and matrix commutability in genetic FTD: a large GENFI study. J Neurol Neurosurg Psychiatry. [Epub ahead of print]
  76. Benussi A, Premi E, Grassi M et al. Diagnostic accuracy of research criteria for prodromal frontotemporal dementia. Alzheimers Res Ther. 2024;16(1):10.
  77. Pasternak M, Mirza SS, Lucia N et al. Longitudinal cerebral perfusion in presymptomatic genetic frontotemporal dementia: GENFI results. Alzheimers Dement. [In press]
  78. Samra K, Peakman G, MacDougall AM et al. Extending the phenotypic spectrum assessed by the CDR® plus NACC FTLD in genetic frontotemporal dementia. Alzheimers Dement (Amst). [In press]
  79. Schonecker S, Martinez-Murcia FJ, Denecke J et al. Frequency and longitudinal course of behavioural and neuropsychiatric symptoms in participants with genetic frontotemporal dementia. [In press]

We have also published a number of papers using data from GENFI as part of the FTD Prevention Initiative. See FPI website and list below:

  1. Moore KM, Nicholas J, Grossman M et al. Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study. Lancet Neurol. 2020;19(2):145-156.
  2. Rojas JC, Wang P, Staffaroni AM et al. Plasma Neurofilament Light for Prediction of Disease Progression in Familial Frontotemporal Lobar Degeneration. Neurology. 2021;96(18):e2296-e2312.
  3. Staffaroni AM, Quintana M, Wendelberger B et al. Temporal order of clinical and biomarker changes in familial frontotemporal dementia. Nat Med. 2022;28(10):2194-2206.

At AAIC 2022 we had our own featured research session called: 10 years of the Genetic FTD Initiative – what have we learned? The following talks were presented in this session (chaired by Elizabeth Finger and Mario Masellis):

For coverage of our research in Alzforum see:

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