CSF protein biomarkers are associated with atrophy and symptom severity in genetic FTD: a GENFI study

Van Mossevelde S, Engelborghs S, van der Zee J, Van Broeckhoven C (2018) Genotype-phenotype links in frontotemporal Lobar degeneration. Nat Rev Neurol 14(6):363–378

Article  PubMed  Google Scholar 

Bocchetta M, Todd EG, Bouzigues A, Cash DM, Nicholas JM, Convery RS et al (2023) Structural MRI predicts clinical progression in presymptomatic genetic frontotemporal dementia: findings from the genetic frontotemporal dementia initiative cohort. Brain Commun 5(2):fcad061

Article  PubMed  PubMed Central  Google Scholar 

Rodriguez-Vieitez E, Rydell MT, Ullgren A, Montal V, Illán-Gala I, Fortea J et al (2025) Cortical microstructure is associated with disease severity and clinical progression in genetic frontotemporal dementia: a GENFI study. Mol Psychiatry 30(12):5800–5812

Article  CAS  PubMed  PubMed Central  Google Scholar 

Rojas JC, Wang P, Staffaroni AM, Heller C, Cobigo Y, Wolf A et al (2021) Plasma neurofilament light for prediction of disease progression in Familial frontotemporal Lobar degeneration. Neurology 96(18):e2296–e2312

Article  CAS  PubMed  PubMed Central  Google Scholar 

Bridel C, van Wieringen WN, Zetterberg H, Tijms BM, Teunissen CE, the NFL Group (2019) Diagnostic value of cerebrospinal fluid neurofilament light protein in neurology: A systematic review and Meta-analysis. JAMA Neurol 76(9):1035–1048

Article  PubMed  PubMed Central  Google Scholar 

Khalil M, Teunissen CE, Otto M, Piehl F, Sormani MP, Gattringer T et al (2018) Neurofilaments as biomarkers in neurological disorders. Nat Rev Neurol 14(10):577–589

Article  CAS  PubMed  Google Scholar 

van der Ende EL, Xiao M, Xu D, Poos JM, Panman JL, Jiskoot LC et al (2020) Neuronal pentraxin 2: a synapse-derived CSF biomarker in genetic frontotemporal dementia. J Neurol Neurosurg Psychiatry 91(6):612–621

Article  PubMed  PubMed Central  Google Scholar 

Sogorb-Esteve A, Nilsson J, Swift IJ, Heller C, Bocchetta M, Russell LL et al (2022) Differential impairment of cerebrospinal fluid synaptic biomarkers in the genetic forms of frontotemporal dementia. Alzheimers Res Ther 14(1):118

Article  CAS  PubMed  PubMed Central  Google Scholar 

Nilsson J, Constantinescu J, Nellgård B, Jakobsson P, Brum WS, Gobom J et al (2023) Cerebrospinal fluid biomarkers of synaptic dysfunction are altered in parkinson’s disease and related disorders. Mov Disord Off J Mov Disord Soc 38(2):267–277

Article  CAS  Google Scholar 

de Gómez N, Massa F, Halbgebauer S, Oeckl P, Steinacker P, Otto M (2022) Neuronal pentraxins as biomarkers of synaptic activity: from physiological functions to pathological changes in neurodegeneration. J Neural Transm Vienna Austria 1996 129(2):207–230

Google Scholar 

Bergström S, Öijerstedt L, Remnestål J, Olofsson J, Ullgren A, Seelaar H et al (2021) A panel of CSF proteins separates genetic frontotemporal dementia from presymptomatic mutation carriers: a GENFI study. Mol Neurodegener 16(1):79

Article  PubMed  PubMed Central  Google Scholar 

Ullgren A, Öijerstedt L, Olofsson J, Bergström S, Remnestål J, van Swieten JC et al (2023) Altered plasma protein profiles in genetic FTD - a GENFI study. Mol Neurodegener 18(1):85

Article  CAS  PubMed  PubMed Central  Google Scholar 

Rohrer JD, Nicholas JM, Cash DM, van Swieten J, Dopper E, Jiskoot L et al (2015) Presymptomatic cognitive and neuroanatomical changes in genetic frontotemporal dementia in the genetic frontotemporal dementia initiative (GENFI) study: a cross-sectional analysis. Lancet Neurol 14(3):253–262

Article  PubMed  PubMed Central  Google Scholar 

Samra K, Peakman G, MacDougall AM, Bouzigues A, Greaves CV, Convery RS et al (2024) Extending the phenotypic spectrum assessed by the CDR plus NACC FTLD in genetic frontotemporal dementia. Alzheimers Dement Amst Neth 16(2):e12571

Article  Google Scholar 

Muehlboeck JS, Westman E, Simmons A (2014) TheHiveDB image data management and analysis framework. Front Neuroinformatics 7:49

Article  Google Scholar 

Fischl B, van der Kouwe A, Destrieux C, Halgren E, Ségonne F, Salat DH et al (2004) Automatically parcellating the human cerebral cortex. Cereb Cortex N Y N 1991 14(1):11–22

Google Scholar 

Desikan RS, Ségonne F, Fischl B, Quinn BT, Dickerson BC, Blacker D et al (2006) An automated labeling system for subdividing the human cerebral cortex on MRI scans into gyral based regions of interest. NeuroImage 31(3):968–980

Article  PubMed  Google Scholar 

Voevodskaya O, Simmons A, Nordenskjöld R, Kullberg J, Ahlström H, Lind L et al (2014) The effects of intracranial volume adjustment approaches on multiple regional MRI volumes in healthy aging and alzheimer’s disease. Front Aging Neurosci 6:264

Article  PubMed  PubMed Central  Google Scholar 

Mowinckel AM, Vidal-Piñeiro D Visualisation of Brain Statistics with R-packages ggseg and ggseg3d [Internet]. arXiv; 2019 [cited 2025 Mar 19]. Available from: http://arxiv.org/abs/1912.08200

Remnestål J, Öijerstedt L, Ullgren A, Olofsson J, Bergström S, Kultima K et al (2020) Altered levels of CSF proteins in patients with FTD, presymptomatic mutation carriers and non-carriers. Transl Neurodegener 9(1):27

Article  PubMed  PubMed Central  Google Scholar 

Wilke C, Pujol-Calderón F, Barro C, Stransky E, Blennow K, Michalak Z et al (2019) Correlations between serum and CSF pNfH levels in ALS, FTD and controls: a comparison of three analytical approaches. Clin Chem Lab Med 57(10):1556–1564

Article  CAS  PubMed  Google Scholar 

Huber N, Korhonen S, Hoffmann D, Leskelä S, Rostalski H, Remes AM et al (2022) Deficient neurotransmitter systems and synaptic function in frontotemporal Lobar degeneration-Insights into disease mechanisms and current therapeutic approaches. Mol Psychiatry 27(3):1300–1309

Article  CAS  PubMed  Google Scholar 

Bright F, Werry EL, Dobson-Stone C, Piguet O, Ittner LM, Halliday GM et al (2019) Neuroinflammation in frontotemporal dementia. Nat Rev Neurol 15(9):540–555

Article  PubMed  Google Scholar 

van der Ende EL, Bron EE, Poos JM, Jiskoot LC, Panman JL, Papma JM et al (2022) A data-driven disease progression model of fluid biomarkers in genetic frontotemporal dementia. Brain J Neurol 145(5):1805–1817

Article  Google Scholar 

Finger E, Malik R, Bocchetta M, Coleman K, Graff C, Borroni B et al (2023) Neurodevelopmental effects of genetic frontotemporal dementia in young adult mutation carriers. Brain J Neurol 146(5):2120–2131

Article  Google Scholar 

Staffaroni AM, Quintana M, Wendelberger B, Heuer HW, Russell LL, Cobigo Y et al (2022) Temporal order of clinical and biomarker changes in Familial frontotemporal dementia. Nat Med 28(10):2194–2206

Article  CAS  PubMed  PubMed Central  Google Scholar 

Moore KM, Nicholas J, Grossman M, McMillan CT, Irwin DJ, Massimo L et al (2020) Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study. Lancet Neurol 19(2):145–156

Article  CAS  PubMed  Google Scholar 

Valles-Capetillo E, Bakul F, Dominguez J, Giordano M, Kana RK (2026) The neurocognitive aspects of empathy and theory of Mind in pragmatic Language processing. Cogn Affect Behav Neurosci. Epub ahead of print.

Zhou JH, Lin CH, Ning BL, Liang XS, Huang XC, Wang SZ et al (2026) Neurovascular dysregulation in the thalamic-temporo-occipital axis is linked to emotional blunting and visual imagery deficits in depression. J Affect Disord 398:121048

Article  PubMed  Google Scholar 

Rascovsky K, Hodges JR, Knopman D, Mendez MF, Kramer JH, Neuhaus J et al (2011) Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia. Brain J Neurol 134(Pt 9):2456–2477

Article  Google Scholar 

De Houwer JFH, Dopper EG, van Buuren R, Stokkel M, de Boer L, Swartenbroekx T et al (2025) Distinct proteomic CSF profiles in genetic frontotemporal Lobar degeneration. Brain J Neurol awaf457. Epub ahead of print.

Fenoglio C, Serpente M, Arcaro M, Carandini T, Sacchi L, Pintus M et al (2024) Inflammatory plasma profile in genetic symptomatic and presymptomatic frontotemporal Dementia - A GENFI study. Brain Behav Immun 122:231–240

Article  CAS  PubMed  Google Scholar 

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