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Research

Research
In his years of research, John van Swieten has been awarded many grants - amounting to a very significant total - resulting in a variety of cutting edge research projects. Some of the most important are listed below:

  • Project leader in 'Neuroimaging and fluid biomarkers in presymptomatic stage of genetic FTD', Bluefield grant
  • Project leader in 'The disease process of C9ORF72 hereditary frontotemporal dementia in the presymptomatic stage: a search for sensitive biomarkers'; JPND
  • 'The disease process of hereditary frontotemporal dementia in the presymptomatic stage: a search for sensitive biomarkers'
  • 'Transgenic mouse model of C9orf72 repeat expansion'
  • 'Risk and modifying factors in frontotemporal dementia (RiMod-FTD)'; JPND
  • 'Functional MRI as a biomarker in the presymptomatic stage of FTD'
  • Identification of causative gene defect(s) in frontotemporal dementia with unknown genetic defect using whole exome sequencing'
  • 'The role of the nerve synapse in the disease process of progressive supranuclear palsy' (De rol van de zenuwsynaps in het ziekteproces van progressieve supranucleaire verlamming)
  • 'Frontotemporal dementia: the genetic cause unravelled' (Frontotemporale dementie: de genetische oorzaak ontrafeld)
  • 'Progranulin levels in frontotemporal dementia' (Progranulinegehalte bij frontotemporale dementie)

Clinical trials
The last few years, John van Swieten has been involved in clinical trials focusing on frontotemporal dementia, for example, the international TauRx trial in bv-FTD and the FORUM trial in FTD patients with a granulin mutation.

Publications
Prof. van Swieten has been (co-)author of some of the foremost publications in his area of expertise. Click here  for a comprehensive list of recent publications. Below, some of the publications with either a high impact factor or a high number of citations are listed:

  •  Ferrari R, et al. … van Swieten JC … Momeni P. Frontotemporal dementia and its subtypes: a genome-wide association study. Lancet Neurol. 2014 Jul;13(7):686-99
  • Majounie E, et al. … van Swieten JC … Traynor BJ. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol. 2012 Apr;11(4):323-30
  • Rohrer JD, et al. … van Swieten J, … Rossor MN. Presymptomatic cognitive and neuroanatomical changes in genetic frontotemporal dementia in the Genetic Frontotemporal dementia Initiative (GENFI) study: a cross-sectional analysis. Lancet Neurol. 2015 Feb 3
  • Renton AE, et al. … van Swieten JC, … Traynor BJ. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron. 2011 Oct 20;72(2):257‐68
  • Diekstra FP, et al. … van Swieten JC, … Veldink JH. C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis. Ann Neurol. 2014 Jul;76(1):120-33
  • Wong TH, et al. … van Swieten J. PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology. Brain. 2014 May;137(Pt 5):1361-73
  • Wong TH, et al. … van Swieten J. Reply: PRKAR1B mutations are a rare cause of FUS negative neuronal intermediate filament inclusion disease. Brain. 2014 Nov 19.
  • Rascovsky K, et al. … van Swieten JC, … Miller BL. Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia  Brain. 2011 Sep;134(Pt 9):2456-77
  • Simón-Sánchez J, et al. … van Swieten JC. The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions. Brain 2012 Mar;135(Pt 3):723-35
  • Gallagher MD, et al. … van Swieten JC … Chen-Plotkin AS. TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72  hexanucleotide repeat expansions. Acta Neuropathol. 2014 Mar;127(3):407-18
  • Seelaar H, et al. ... van Swieten JC. Clinical, genetic and pathological heterogeneity of frontotemporal dementia: a review. J Neurol Neurosurg Psychiatry. 2011 May;82(5):476-86

 

MRI research