John C van Swieten

Summary

Affiliation: Erasmus MC
Country: The Netherlands

Publications

  1. pmc Frequency of ubiquitin and FUS-positive, TDP-43-negative frontotemporal lobar degeneration
    Harro Seelaar
    Department of Neurology, Erasmus MC, University Medical Center Rotterdam, Room Hs 611, s Gravendijkwal 230, 3015 CE Rotterdam, The Netherlands
    J Neurol 257:747-53. 2010
  2. pmc Symmetrical corticobasal syndrome caused by a novel C.314dup progranulin mutation
    Elise G P Dopper
    Department of Neurology, Erasmus Medical Center, s Gravendijkwal 230, 3015 CE, Rotterdam, The Netherlands
    J Mol Neurosci 45:354-8. 2011
  3. pmc Blood-brain barrier P-glycoprotein function in healthy subjects and Alzheimer's disease patients: effect of polymorphisms in the ABCB1 gene
    Daniëlle Me van Assema
    Department of Neurology and Alzheimer Center, VU University Medical Center, P, O, Box 7057, Amsterdam, 1007 MB, The Netherlands
    EJNMMI Res 2:57. 2012
  4. doi request reprint Midcingulate involvement in progressive supranuclear palsy and tau positive frontotemporal dementia
    Wang Zheng Chiu
    Department of Neurology, Erasmus University Medical Centre, Rotterdam, The Netherlands
    J Neurol Neurosurg Psychiatry 83:910-5. 2012
  5. doi request reprint The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions
    Javier Simon-Sanchez
    Department of Clinical Genetics, VU University Medical Centre, 1007 MB Amsterdam, The Netherlands
    Brain 135:723-35. 2012
  6. ncbi request reprint Phenotypic variation in frontotemporal dementia and parkinsonism linked to chromosome 17
    John C van Swieten
    Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands
    Dement Geriatr Cogn Disord 17:261-4. 2004
  7. ncbi request reprint The DeltaK280 mutation in MAP tau favors exon 10 skipping in vivo
    John C van Swieten
    Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands
    J Neuropathol Exp Neurol 66:17-25. 2007
  8. doi request reprint Mutations in progranulin (GRN) within the spectrum of clinical and pathological phenotypes of frontotemporal dementia
    John C van Swieten
    Department of Neurology, Erasmus Medical Center, Rotterdam, Netherlands
    Lancet Neurol 7:965-74. 2008
  9. ncbi request reprint Hereditary frontotemporal dementia caused by Tau gene mutations
    John van Swieten
    Erasmus Medical Centre, Rotterdam, The Netherlands
    Brain Pathol 17:63-73. 2007
  10. ncbi request reprint Variable phenotypic expression and extensive tau pathology in two families with the novel tau mutation L315R
    Esther van Herpen
    Department of Clinical Genetics, Erasmus Medical Center, Dr Molewaterplein 40, 3015 GD Rotterdam, The Netherlands
    Ann Neurol 54:573-81. 2003

Collaborators

Detail Information

Publications39

  1. pmc Frequency of ubiquitin and FUS-positive, TDP-43-negative frontotemporal lobar degeneration
    Harro Seelaar
    Department of Neurology, Erasmus MC, University Medical Center Rotterdam, Room Hs 611, s Gravendijkwal 230, 3015 CE Rotterdam, The Netherlands
    J Neurol 257:747-53. 2010
    ..The existence of this pathological subtype can be predicted with reasonable certainty by age at onset <or=40 years, negative family history, bvFTD and caudate atrophy on MRI...
  2. pmc Symmetrical corticobasal syndrome caused by a novel C.314dup progranulin mutation
    Elise G P Dopper
    Department of Neurology, Erasmus Medical Center, s Gravendijkwal 230, 3015 CE, Rotterdam, The Netherlands
    J Mol Neurosci 45:354-8. 2011
    ..GRN mutations are an important cause of CBS associated with FTLD-TDP type 3 pathology, sometimes in sporadic cases. Screening for GRN mutations should also be considered in CBS patients without a positive family history...
  3. pmc Blood-brain barrier P-glycoprotein function in healthy subjects and Alzheimer's disease patients: effect of polymorphisms in the ABCB1 gene
    Daniëlle Me van Assema
    Department of Neurology and Alzheimer Center, VU University Medical Center, P, O, Box 7057, Amsterdam, 1007 MB, The Netherlands
    EJNMMI Res 2:57. 2012
    ..abstract:..
  4. doi request reprint Midcingulate involvement in progressive supranuclear palsy and tau positive frontotemporal dementia
    Wang Zheng Chiu
    Department of Neurology, Erasmus University Medical Centre, Rotterdam, The Netherlands
    J Neurol Neurosurg Psychiatry 83:910-5. 2012
    ..The aim of this study was to investigate the functional role of affected brain regions in cognition in PSP compared with controls and subsequently examine these regions in FTD patients with known tau pathology (FTD tau)...
  5. doi request reprint The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions
    Javier Simon-Sanchez
    Department of Clinical Genetics, VU University Medical Centre, 1007 MB Amsterdam, The Netherlands
    Brain 135:723-35. 2012
    ..Neuropathological hallmarks include neuronal and glial inclusions, and dystrophic neurites containing transactive response DNA binding protein. Future studies are needed to explain the wide variation in clinical presentation...
  6. ncbi request reprint Phenotypic variation in frontotemporal dementia and parkinsonism linked to chromosome 17
    John C van Swieten
    Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands
    Dement Geriatr Cogn Disord 17:261-4. 2004
    ..Future research should focus on the role of other genetic and environmental factors in this form of FTDP-17, whereas the responsible gene defect(s) has still to be identified for hereditary FTD without tau mutations...
  7. ncbi request reprint The DeltaK280 mutation in MAP tau favors exon 10 skipping in vivo
    John C van Swieten
    Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands
    J Neuropathol Exp Neurol 66:17-25. 2007
    ..These observations confirm the postulated hypothesis that the DeltaK280 mutation abolishes a splice enhancer element, which overrules the decreased microtubule binding and enhanced self-aggregation...
  8. doi request reprint Mutations in progranulin (GRN) within the spectrum of clinical and pathological phenotypes of frontotemporal dementia
    John C van Swieten
    Department of Neurology, Erasmus Medical Center, Rotterdam, Netherlands
    Lancet Neurol 7:965-74. 2008
    ..20-30% of cases of FTD follow an autosomal dominant pattern of inheritance, and half of which are caused by defects in MAPT, CHMP2B, and VCP...
  9. ncbi request reprint Hereditary frontotemporal dementia caused by Tau gene mutations
    John van Swieten
    Erasmus Medical Centre, Rotterdam, The Netherlands
    Brain Pathol 17:63-73. 2007
    ..The range of tau pathology identified in FTDP-17 recapitulates that in sporadic tauopathies, indicating a major role for tau dysfunction in these diseases...
  10. ncbi request reprint Variable phenotypic expression and extensive tau pathology in two families with the novel tau mutation L315R
    Esther van Herpen
    Department of Clinical Genetics, Erasmus Medical Center, Dr Molewaterplein 40, 3015 GD Rotterdam, The Netherlands
    Ann Neurol 54:573-81. 2003
    ..All six tau isoforms were present in soluble brain tau. Recombinant tau proteins with the L315R mutation showed a reduced ability to promote microtubule assembly...
  11. ncbi request reprint Plasma levels of antioxidants are not associated with Alzheimer's disease or cognitive decline
    Marianne J Engelhart
    Department of Epidemiology and Biostatistics, Erasmus Medical Center, Rotterdam, The Netherlands
    Dement Geriatr Cogn Disord 19:134-9. 2005
    ..87 (95% CI 0.64-1.19) for vitamin A and 0.94 (95% CI 0.60-1.48) for vitamin E. Antioxidants were not related to CD in non-demented subjects. Our findings suggest no association between plasma levels of vitamin A and E and AD or CD...
  12. ncbi request reprint TDP-43 pathology in familial frontotemporal dementia and motor neuron disease without Progranulin mutations
    Harro Seelaar
    Department of Neurology, Erasmus University Medical Centre, Rotterdam, The Netherlands
    Brain 130:1375-85. 2007
    ..NII are also found in some cases of familial FTD + MND without Progranulin mutations. The observation of glial TDP-43 positive inclusions in one brain is very interesting, although their pathophysiological significance is yet unknown...
  13. ncbi request reprint Total tau and phosphorylated tau 181 levels in the cerebrospinal fluid of patients with frontotemporal dementia due to P301L and G272V tau mutations
    Sonia M Rosso
    Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands
    Arch Neurol 60:1209-13. 2003
    ..Mutations in the tau gene have been found in the familial form of FTD, linked to chromosome 17q21-22, showing a spectrum of tauopathy...
  14. ncbi request reprint Structural and functional brain connectivity in presymptomatic familial frontotemporal dementia
    Elise G P Dopper
    From the Departments of Neurology E G P D, L C J, T d H, H S, J C v S, Epidemiology T d H, and Neuropsychology J R A d G, I d K, Erasmus Medical Center, Rotterdam Department of Radiology E G P D, S A R B R, I M V, M A v B, Leiden University Medical Center Departments of Neurology E G P D and Clinical Genetics A R H, P R, J C v S, VU Medical Center, Amsterdam Leiden Institute for Brain and Cognition S A R B R, I M V, M A v B and Institute of Psychology S A R B R, I M V, Leiden University Department of Neurology T d H, Sint Franciscus Gasthuis, Rotterdam, the Netherlands and Department of Neurology W W S and Memory and Aging Center W W S, University of California, San Francisco
    Neurology 83:e19-26. 2014
    ....
  15. ncbi request reprint Evidence for novel loci for late-onset Parkinson's disease in a genetic isolate from the Netherlands
    Aida M Bertoli-Avella
    Genetic Epidemiologic Unit, Department of Clinical Genetics and Department of Epidemiology and Biostatistics, Erasmus MC Rotterdam, PO Box 1738, 3000 DR, Rotterdam, The Netherlands
    Hum Genet 119:51-60. 2006
    ..7-6.1, P < 0.001). Moreover, a common haplotype with excess of sharing among late-onset PD cases was observed on both regions. Our results suggest the existence of two loci influencing PD susceptibility on chromosome 9q and 14q...
  16. ncbi request reprint A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's disease
    Sonia M Rosso
    Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands
    Ann Neurol 51:373-6. 2002
    ..Recombinant tau protein with the S320F mutation showed a greatly reduced ability to promote microtubule assembly...
  17. doi request reprint Survival in progressive supranuclear palsy and frontotemporal dementia
    Wang Zheng Chiu
    Department of Neurology, Erasmus University Medical Centre Rotterdam, Room Hs 611, s Gravendijkwal 230, 3015 CE Rotterdam, The Netherlands
    J Neurol Neurosurg Psychiatry 81:441-5. 2010
    ..To compare survival and to identify prognostic predictors for progressive supranuclear palsy and frontotemporal dementia...
  18. ncbi request reprint Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype
    Esther Brusse
    Department of Neurology, Erasmus MC University Medical Center Rotterdam, The Netherlands
    Mov Disord 21:396-401. 2006
    ..Behavioral problems were also observed. Further investigations will have to determine the role of FGF14 in the pathogenesis of neurodegeneration and the frequency of this FGF14 mutation in SCA. (c) 2005 Movement Disorder Society...
  19. ncbi request reprint Inflammatory proteins in plasma and the risk of dementia: the rotterdam study
    Marianne J Engelhart
    Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands
    Arch Neurol 61:668-72. 2004
    ..Increased levels of inflammatory proteins have been found in the brains and plasma samples of patients with dementia. Whether the levels of inflammatory proteins in plasma samples are elevated before clinical onset of dementia is unclear...
  20. ncbi request reprint A deletion in DJ-1 and the risk of dementia--a population-based survey
    Alejandro Arias Vasquez
    Genetic Epidemiology Unit, Department of Epidemiology and Biostatistics, Erasmus MC, P O Box 1738, 3000 DR Rotterdam, The Netherlands
    Neurosci Lett 372:196-9. 2004
    ..All subjects were heterozygous for the deletion and related to a common ancestor within eight generations. Our results suggest it is unlikely that haploinsufficiency in the DJ-1 gene imparts an increased risk for dementia...
  21. pmc Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations
    Peter Elfferich
    Department of Clinical Genetics, Erasmus Medical Center Rotterdam, Rotterdam, The Netherlands
    Neurogenetics 12:263-71. 2011
    ..2 Mb could be distinguished for the exon 7 duplication and a common haplotype of 6.3 Mb for the deletion of exon 4. These findings suggest common founder effects for distinct large rearrangements in parkin...
  22. ncbi request reprint Mutations in the hemochromatosis gene (HFE), Parkinson's disease and parkinsonism
    Marieke C J Dekker
    Department of Epidemiology and Biostatistics, Erasmus MC, P O Box 1738, 3000 DR Rotterdam, The Netherlands
    Neurosci Lett 348:117-9. 2003
    ..009, P=0.006, respectively). Our data are hampered by small numbers, yet suggest that the C282Y mutation increases the risk of PD and non-PD PS. The rarity of this genotype requires a large series of patients to prove our hypothesis...
  23. ncbi request reprint Frontotemporal dementia in The Netherlands: patient characteristics and prevalence estimates from a population-based study
    Sonia M Rosso
    Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands
    Brain 126:2016-22. 2003
    ..The finding of tau mutations in 32% of patients with a positive family history for dementia justifies mutation screening in FTD patients with a positive family history, while tau mutations in non-familiar cases are rare...
  24. doi request reprint Linkage analysis for plasma amyloid beta levels in persons with hypertension implicates Aβ-40 levels to presenilin 2
    Carla A Ibrahim-Verbaas
    Department of Neurology, Erasmus University Medical Center, P O Box 2040, 3000 CA Rotterdam, The Netherlands
    Hum Genet 131:1869-76. 2012
    ..1 × 10(-3) for rs2514299). This linkage study of plasma concentrations of Aβ40 and Aβ42 yielded two suggestive regions, of which one points toward a known locus for familial AD...
  25. ncbi request reprint Endogenous estradiol and risk of dementia in women and men: the Rotterdam Study
    Mirjam I Geerlings
    Department of Epidemiology and Biostatistics, Erasmus Medical Center, Rotterdam, The Netherlands
    Ann Neurol 53:607-15. 2003
    ..The findings do not support the hypothesis that higher levels of endogenous estradiol reduce risk of dementia, neither in women nor in men...
  26. ncbi request reprint Cerebral hypoperfusion and clinical onset of dementia: the Rotterdam Study
    Annemieke Ruitenberg
    Department of Epidemiology and Biostatistics, Erasmus Medical Center, Rotterdam, The Netherlands
    Ann Neurol 57:789-94. 2005
    ..Although we cannot exclude that this is caused by preclinical neurodegeneration leading to hypoperfusion, it does suggest that cerebral hypoperfusion precedes and possibly contributes to onset of clinical dementia...
  27. ncbi request reprint Cerebral small vessel disease affects white matter microstructure in mild cognitive impairment
    Janne M Papma
    Department of Neurology, Erasmus MC University Medical Center, Rotterdam, The Netherlands Department of Radiology, Erasmus MC University Medical Center, Rotterdam, The Netherlands
    Hum Brain Mapp 35:2836-51. 2014
    ..In conclusion, we found evidence of CSVD-related microstructural damage in fiber tracts subserving the DMN in MCI...
  28. pmc Structural and functional brain connectivity in presymptomatic familial frontotemporal dementia
    Elise G P Dopper
    Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands
    Neurology 80:814-23. 2013
    ..We aimed to investigate whether cognitive deficits and structural and functional connectivity changes can be detected before symptom onset in a large cohort of carriers of microtubule-associated protein tau and progranulin mutations...
  29. doi request reprint Clinical, genetic and pathological heterogeneity of frontotemporal dementia: a review
    Harro Seelaar
    Department of Neurology, Erasmus MC University Medical Centre Rotterdam, Rotterdam, The Netherlands
    J Neurol Neurosurg Psychiatry 82:476-86. 2011
    ..The potential to establish an early diagnosis, predict underlying pathology during life and quantify disease progression will all be required for disease-specific therapeutic trials in the future...
  30. pmc A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]
    John C van Swieten
    Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands
    Am J Hum Genet 72:191-9. 2003
    ..The present FGF14 mutation represents a novel gene defect involved in the neurodegeneration of cerebellum and basal ganglia...
  31. doi request reprint Association of cognitive functioning with retinal nerve fiber layer thickness
    Leonieke M E van Koolwijk
    Glaucoma Service, The Rotterdam Eye Hospital, Rotterdam, The Netherlands
    Invest Ophthalmol Vis Sci 50:4576-80. 2009
    ..The association between cognitive functioning and retinal nerve fiber layer (RNFL) thickness was assessed in a large, population-based sample...
  32. pmc Fatigue in spinocerebellar ataxia: patient self-assessment of an early and disabling symptom
    Esther Brusse
    Department of Neurology, Erasmus MC University Medical Center Rotterdam, PO Box 2040, 3000 CA, Rotterdam, The Netherlands
    Neurology 76:953-9. 2011
    ..To identify the prevalence and severity of fatigue and predicting factors for severe fatigue in autosomal dominant spinocerebellar ataxia (SCA)...
  33. ncbi request reprint Episodic memory impairment in frontotemporal dementia; a ⁹⁹mTc- HMPAO SPECT study
    Janne M Papma
    Department of Neurology, Erasmus MC University Medical Center, Rotterdam, The Netherlands
    Curr Alzheimer Res 10:332-9. 2013
    ....
  34. ncbi request reprint New developments in frontotemporal dementia and parkinsonism linked to chromosome 17
    Sonia M Rosso
    Department of Neurology, Erasmus Medical Centre, University Hospital Dijkzigt, Dr Molewaterplein 40, 3015 GD Rotterdam, The Netherlands
    Curr Opin Neurol 15:423-8. 2002
    ..Over the past year several new mutations have been identified, and experimental studies have provided further insight into the mechanism of neurodegeneration due to tau mutations and possible interactions with amyloid pathology...
  35. doi request reprint A genome-wide screen for depression in two independent Dutch populations
    Suzanne Schol-Gelok
    Department of Epidemiology, Erasmus University Medical Center, Rotterdam, The Netherlands
    Biol Psychiatry 68:187-96. 2010
    ..Depression has a strong genetic component but candidate gene studies conducted to date have not shown consistent associations...
  36. ncbi request reprint No mutations in hnRNPA1 and hnRNPA2B1 in Dutch patients with amyotrophic lateral sclerosis, frontotemporal dementia, and inclusion body myopathy
    Meinie Seelen
    Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands
    Neurobiol Aging 35:1956.e9-1956.e11. 2014
    ..We did not identify any mutations in these genes in our cohorts. Mutations in hnRNPA1 and hnRNPA2B1 prove to be a rare cause of ALS, FTD, and IBM in the Netherlands. ..
  37. ncbi request reprint The ALS-FTD-Q: a new screening tool for behavioral disturbances in ALS
    Joost Raaphorst
    Department of Neurology, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
    Neurology 79:1377-83. 2012
    ..We examined the clinimetric properties of a new behavioral questionnaire for patients with ALS (Amyotrophic Lateral Sclerosis-Frontotemporal Dementia-Questionnaire [ALS-FTD-Q])...
  38. ncbi request reprint Dietary intake of antioxidants and risk of Alzheimer disease
    Marianne J Engelhart
    Department of Epidemiology and Biostatistics, Erasmus Medical Center, 3000 DR Rotterdam, The Netherlands
    JAMA 287:3223-9. 2002
    ..Therefore, the risk of Alzheimer disease might be reduced by intake of antioxidants that counteract the detrimental effects of oxidative stress...
  39. ncbi request reprint Alcohol consumption and risk of dementia: the Rotterdam Study
    Annemieke Ruitenberg
    Department of Epidemiology and Biostatistics, Erasmus Medical Centre, PO Box 1738, 3000 DR Rotterdam, Netherlands
    Lancet 359:281-6. 2002
    ..Because vascular disease is associated with cognitive impairment and dementia, we hypothesised that alcohol consumption might also affect the risk of dementia...