Christine Van Broeckhoven

Summary

Affiliation: University of Antwerp
Country: Belgium

Publications

  1. pmc Genetic findings in Parkinson's disease and translation into treatment: a leading role for mitochondria?
    V Bogaerts
    Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, University of Antwerpen, Antwerpen, Belgium
    Genes Brain Behav 7:129-51. 2008
  2. ncbi Genetics and pathology of alpha-secretase site AbetaPP mutations in the understanding of Alzheimer's disease
    Christine Van Broeckhoven
    Department of Molecular Genetics, Neurodegenerative Brain Diseases Research Group, Flanders Interuniversity Institute for Biotechnology, Institute Born Bunge and University of Antwerp, Antwerpen, Belgium
    J Alzheimers Dis 9:389-98. 2006
  3. ncbi Genetic variability in progranulin contributes to risk for clinically diagnosed Alzheimer disease
    N Brouwers
    VIB Department of Molecular Genetics, Neurodegenerative Brain Diseases Group, University of Antwerp Campus CDE, Universiteitsplein 1, B 2610 Antwerpen, Belgium
    Neurology 71:656-64. 2008
  4. ncbi Alzheimer and Parkinson diagnoses in progranulin null mutation carriers in an extended founder family
    Nathalie Brouwers
    VIB Department of Molecular Genetics, Neurodegenerative Brain Diseases Group, University of Antwerp CDE, Universiteitsplein 1, BE 2610 Antwerpen, Belgium
    Arch Neurol 64:1436-46. 2007
  5. ncbi Relative contribution of simple mutations vs. copy number variations in five Parkinson disease genes in the Belgian population
    Karen Nuytemans
    Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Antwerp, Belgium
    Hum Mutat 30:1054-61. 2009
  6. ncbi Association of brain-specific tryptophan hydroxylase, TPH2, with unipolar and bipolar disorder in a Northern Swedish, isolated population
    Ann Van Den Bogaert
    Applied Molecular Genomics Group, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Antwerp, Belgium
    Arch Gen Psychiatry 63:1103-10. 2006
  7. pmc TMEM106B is associated with frontotemporal lobar degeneration in a clinically diagnosed patient cohort
    Julie van der Zee
    Neurodegenerative Brain Disease Group, VIB Department of Molecular Genetics, University of Antwerp CDE, Universiteitsplein 1, 2610 Antwerpen, Belgium
    Brain 134:808-15. 2011
  8. doi Follow-up study of susceptibility loci for Alzheimer's disease and onset age identified by genome-wide association
    Karolien Bettens
    Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Antwerpen, Belgium
    J Alzheimers Dis 19:1169-75. 2010
  9. ncbi No association of CSF biomarkers with APOEepsilon4, plaque and tangle burden in definite Alzheimer's disease
    Sebastiaan Engelborghs
    Department of Neurology and Memory Clinic, Middelheim General Hospital ZNA, Antwerpen, Belgium
    Brain 130:2320-6. 2007
  10. pmc Overexpression of ALS-associated p.M337V human TDP-43 in mice worsens disease features compared to wild-type human TDP-43 mice
    Jonathan Janssens
    Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Universiteitsplein 1, 2610, Antwerp, Belgium
    Mol Neurobiol 48:22-35. 2013

Detail Information

Publications114 found, 100 shown here

  1. pmc Genetic findings in Parkinson's disease and translation into treatment: a leading role for mitochondria?
    V Bogaerts
    Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, University of Antwerpen, Antwerpen, Belgium
    Genes Brain Behav 7:129-51. 2008
    ..We highlight how these genetic findings provided us with suitable animal models and critically review how the gained insights will contribute to better therapies for PD...
  2. ncbi Genetics and pathology of alpha-secretase site AbetaPP mutations in the understanding of Alzheimer's disease
    Christine Van Broeckhoven
    Department of Molecular Genetics, Neurodegenerative Brain Diseases Research Group, Flanders Interuniversity Institute for Biotechnology, Institute Born Bunge and University of Antwerp, Antwerpen, Belgium
    J Alzheimers Dis 9:389-98. 2006
    ..In addition, this review will also point directions that warrant additional studies...
  3. ncbi Genetic variability in progranulin contributes to risk for clinically diagnosed Alzheimer disease
    N Brouwers
    VIB Department of Molecular Genetics, Neurodegenerative Brain Diseases Group, University of Antwerp Campus CDE, Universiteitsplein 1, B 2610 Antwerpen, Belgium
    Neurology 71:656-64. 2008
    ..We assessed whether PGRN also contributes to genetic risk for Alzheimer disease (AD) in an extended Belgian AD patient group (n = 779, onset age 74.7 +/- 8.7 years)...
  4. ncbi Alzheimer and Parkinson diagnoses in progranulin null mutation carriers in an extended founder family
    Nathalie Brouwers
    VIB Department of Molecular Genetics, Neurodegenerative Brain Diseases Group, University of Antwerp CDE, Universiteitsplein 1, BE 2610 Antwerpen, Belgium
    Arch Neurol 64:1436-46. 2007
    ..Progranulin gene (PGRN) haploinsufficiency was recently associated with ubiquitin-positive frontotemporal lobar degeneration linked to chromosome 17q21 (FTLDU-17)...
  5. ncbi Relative contribution of simple mutations vs. copy number variations in five Parkinson disease genes in the Belgian population
    Karen Nuytemans
    Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Antwerp, Belgium
    Hum Mutat 30:1054-61. 2009
    ..Furthermore, though mutations is SNCA, PINK1, and PARK7 are rare, our identification of a SNCA duplication confirmed that screening of these genes remains meaningful...
  6. ncbi Association of brain-specific tryptophan hydroxylase, TPH2, with unipolar and bipolar disorder in a Northern Swedish, isolated population
    Ann Van Den Bogaert
    Applied Molecular Genomics Group, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Antwerp, Belgium
    Arch Gen Psychiatry 63:1103-10. 2006
    ..Tryptophan hydroxylase 2 (TPH2) was found to be solely expressed in the brain and therefore considered an important susceptibility gene in psychiatric disorders...
  7. pmc TMEM106B is associated with frontotemporal lobar degeneration in a clinically diagnosed patient cohort
    Julie van der Zee
    Neurodegenerative Brain Disease Group, VIB Department of Molecular Genetics, University of Antwerp CDE, Universiteitsplein 1, 2610 Antwerpen, Belgium
    Brain 134:808-15. 2011
    ..Additional studies are needed to unravel the molecular role of TMEM106B in disease onset and pathogenesis...
  8. doi Follow-up study of susceptibility loci for Alzheimer's disease and onset age identified by genome-wide association
    Karolien Bettens
    Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Antwerpen, Belgium
    J Alzheimers Dis 19:1169-75. 2010
    ..90; nominal p = 0.01)). Overall, our data provided independent support for association of at least one chromosomal locus with AD and warranted a more in-depth investigation of these regions for possible underlying functional variants...
  9. ncbi No association of CSF biomarkers with APOEepsilon4, plaque and tangle burden in definite Alzheimer's disease
    Sebastiaan Engelborghs
    Department of Neurology and Memory Clinic, Middelheim General Hospital ZNA, Antwerpen, Belgium
    Brain 130:2320-6. 2007
    ....
  10. pmc Overexpression of ALS-associated p.M337V human TDP-43 in mice worsens disease features compared to wild-type human TDP-43 mice
    Jonathan Janssens
    Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Universiteitsplein 1, 2610, Antwerp, Belgium
    Mol Neurobiol 48:22-35. 2013
    ..Furthermore, we show that cellular aggregate formation or accumulation of TDP-43 C-terminal fragments (CTFs) are not primarily responsible for development of the observed disease phenotype in both mutant and wild-type TDP-43 mice...
  11. ncbi Single nucleotide polymorphism analysis of corticotropin-releasing factor-binding protein gene in recurrent major depressive disorder
    Filip Van Den Eede
    Department of Molecular Genetics VIB8, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Universiteitsplein 1, B 2610 Antwerp, Belgium
    Psychiatry Res 153:17-25. 2007
    ..The association between genetic CRF-BP variants and MDD may be sexually dimorphic, but this issue requires further investigation in a larger sample...
  12. doi Progranulin expression correlates with dense-core amyloid plaque burden in Alzheimer disease mouse models
    Sandra Pereson
    Department of Molecular Genetics, VIB, Antwerpen, Belgium
    J Pathol 219:173-81. 2009
    ..Because loss of GRN has recently been shown to cause frontotemporal dementia and serves as a risk factor for AD, the strong GRN reactivity around dense-core plaques is consistent with an important role of this factor in AD pathogenesis...
  13. ncbi Intraneuronal amyloid beta and reduced brain volume in a novel APP T714I mouse model for Alzheimer's disease
    Bianca Van Broeck
    Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Universiteitsplein 1, BE 2610 Antwerpen, Belgium
    Neurobiol Aging 29:241-52. 2008
    ..These data support earlier observations of A beta accumulation in the endosomal-lysosomal pathway and the hypothesis that intraneuronal accumulation of A beta could be an important factor in the AD pathogenesis...
  14. doi Founder mutation p.R1441C in the leucine-rich repeat kinase 2 gene in Belgian Parkinson's disease patients
    Karen Nuytemans
    Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Antwerpen, Belgium
    Eur J Hum Genet 16:471-9. 2008
    ..Functional data should underlie a conclusion on the pathogenic nature of some mutations that have not been conclusively linked to disease...
  15. doi Contribution of TARDBP to Alzheimer's disease genetic etiology
    Nathalie Brouwers
    Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Antwerpen, Belgium
    J Alzheimers Dis 21:423-30. 2010
    ..In conclusion, the genetic contribution of TARDBP to AD was restricted to the rare mutation p.Ala90Val (3/739, 0.4%) of unclear pathogenic nature that affects the nuclear localization signal in TDP-43...
  16. doi Genetic variability in the mitochondrial serine protease HTRA2 contributes to risk for Parkinson disease
    Veerle Bogaerts
    Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Antwerpen, Belgium
    Hum Mutat 29:832-40. 2008
    ..The latter underpins a previously unrecognized role for altered HTRA2 expression as a risk factor relevant to parkinsonian neurodegeneration...
  17. ncbi Single nucleotide polymorphism analysis of corticotropin-releasing factor-binding protein gene in bipolar disorder
    Filip Van Den Eede
    Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, Antwerp, Belgium
    Psychiatr Genet 17:304-7. 2007
    ..In conclusion, this study in an isolated Swedish population does not support a role for the CRF-BP gene in the vulnerability for bipolar disorder...
  18. doi Distinct clinical characteristics of C9orf72 expansion carriers compared with GRN, MAPT, and nonmutation carriers in a Flanders-Belgian FTLD cohort
    Tim Van Langenhove
    VIB Department of Molecular Genetics, Neurodegenerative Brain Diseases Group, University of Antwerp CDE, Universiteitsplein 1, Antwerp, Belgium
    JAMA Neurol 70:365-73. 2013
    ....
  19. ncbi Characterization of ubiquitinated intraneuronal inclusions in a novel Belgian frontotemporal lobar degeneration family
    Daniel Pirici
    Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology VIB8, Institute Born Bunge, University of Antwerp, Belgium
    J Neuropathol Exp Neurol 65:289-301. 2006
    ..Whereas the precise nature of the protein remains elusive, characterization of such familial FTLD-U patients would be helpful in identifying a common denominator in the pathogenesis of familial and the more prevalent sporadic FTLD-U...
  20. ncbi DNMBP is genetically associated with Alzheimer dementia in the Belgian population
    Karolien Bettens
    Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, University of Antwerp, Universiteitsplein 1, 2610 Antwerpen, Belgium
    Neurobiol Aging 30:2000-9. 2009
    ..Taken together our findings underscore a role for DNMBP in the genetic risk for late-onset AD in the Belgian population...
  21. doi No association between CALHM1 and risk for Alzheimer dementia in a Belgian population
    Kristel Sleegers
    Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, University of Antwerp, Antwerpen, Belgium
    Hum Mutat 30:E570-4. 2009
    ..Despite its functional properties, our study suggests the polymorphism does not contribute significantly to AD risk in the Belgian population...
  22. pmc Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update
    Karen Nuytemans
    Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Antwerpen, Belgium
    Hum Mutat 31:763-80. 2010
    ....
  23. ncbi Genetic risk and transcriptional variability of amyloid precursor protein in Alzheimer's disease
    Nathalie Brouwers
    Neurodegenerative Brain Diseases Group, Department of Molecular Genetics Flanders Interuniversity Institute for Biotechnology Antwerpen, Belgium
    Brain 129:2984-91. 2006
    ....
  24. ncbi A Belgian ancestral haplotype harbours a highly prevalent mutation for 17q21-linked tau-negative FTLD
    Julie van der Zee
    Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Antwerpen, Belgium
    Brain 129:841-52. 2006
    ..Together, these results strongly suggest that the DR2-DR8 founder haplotype at 17q21 harbours a tau-negative FTLD causing mutation that is a much more frequent cause of FTLD in Belgium than MAPT mutations...
  25. doi DLB and PDD: a role for mutations in dementia and Parkinson disease genes?
    Bram Meeus
    Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Antwerpen, Belgium
    Neurobiol Aging 33:629.e5-629.e18. 2012
    ..They do support the hypothesis of a genetic overlap between members of the Lewy body disease spectrum, but additional genes still have to exist...
  26. ncbi CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro
    Julie van der Zee
    Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Antwerpen, Belgium
    Hum Mol Genet 17:313-22. 2008
    ..We also describe a missense mutation in exon 5 of CHMP2B (p.Asn143Ser) in a familial patient with cortical basal degeneration. However, the pathogenic character of this mutation remains elusive...
  27. ncbi Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21
    Marc Cruts
    Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, Universiteitsplein 1, BE 2610 Antwerpen, Belgium
    Nature 442:920-4. 2006
    ..Furthermore, in a Belgian series of familial FTD patients, PGRN mutations were 3.5 times more frequent than mutations in MAPT, underscoring a principal involvement of PGRN in FTD pathogenesis...
  28. ncbi Mean age-of-onset of familial alzheimer disease caused by presenilin mutations correlates with both increased Abeta42 and decreased Abeta40
    Samir Kumar-Singh
    Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, Flanders Interuniversity Institute of Biotechnology, University of Antwerp, Antwerpen, Belgium
    Hum Mutat 27:686-95. 2006
    ..Also, the in vitro method we describe here is a valid tool for assaying the pathogenic potential of clinical PSEN mutations in a molecular diagnostic setting...
  29. doi Comprehensive genetic and mutation analysis of familial dementia with Lewy bodies linked to 2q35-q36
    Bram Meeus
    Department of Molecular Genetics, VIB, Antwerpen, Belgium
    J Alzheimers Dis 20:197-205. 2010
    ..Nevertheless, identifying the first familial DLB gene is likely to contribute an entry point into the pathogenic cascades underlying DLB pathology...
  30. doi Common variation in GRB-associated Binding Protein 2 (GAB2) and increased risk for Alzheimer dementia
    Kristel Sleegers
    Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, University of Antwerp CDE, Universiteitsplein 1, B 2610 Antwerpen, Belgium
    Hum Mutat 30:E338-44. 2009
    ..6). The association was driven by a higher frequency of the major haplotype in patients. Our data independently replicate an association between GAB2 and late-onset AD, which appears to be limited to APOE epsilon4 carriers...
  31. ncbi Cerebrospinal fluid Aβ1-40 improves differential dementia diagnosis in patients with intermediate P-tau181P levels
    Sylvie Slaets
    Reference Center for Biological Markers of Dementia, Laboratory of Neurochemistry and Behavior, Institute Born Bunge, University of Antwerp, Universiteitsplein 1, Antwerp, Belgium
    J Alzheimers Dis 36:759-67. 2013
    ....
  32. doi Reduced brain volumes in mice expressing APP-Austrian mutation but not in mice expressing APP-Swedish-Austrian mutations
    Bianca Van Broeck
    Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Antwerpen, Belgium
    Neurosci Lett 447:143-7. 2008
    ..These data also provide a first in vivo indication of altered processing of APP-Swedish at sub-endogenous levels, an effect not observed in mouse models expressing the APP-Swedish mutation in high amounts...
  33. ncbi Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia
    Julie van der Zee
    Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Antwerpen, Belgium
    Hum Mutat 28:416. 2007
    ..Our findings extend the mutation spectrum in PGRN leading to loss of functional PGRN as the basis for FTD...
  34. pmc Linkage and association studies identify a novel locus for Alzheimer disease at 7q36 in a Dutch population-based sample
    Rosa Rademakers
    Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Antwerp, Belgium
    Am J Hum Genet 77:643-52. 2005
    ....
  35. pmc A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats
    Julie van der Zee
    Department of Molecular Genetics, VIB, Antwerp, Belgium
    Hum Mutat 34:363-73. 2013
    ..001) with the most common indel creating one long contiguous imperfect G(4) C(2) repeat, which is likely more prone to replication slippage and pathological expansion...
  36. doi Cellular ageing, increased mortality and FTLD-TDP-associated neuropathology in progranulin knockout mice
    Hans Wils
    Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Antwerp, Belgium
    J Pathol 228:67-76. 2012
    ..Our data suggest that progranulin deficiency in mice leads to reduced survival in adulthood and increased cellular ageing accompanied by hyperphosphorylation of TDP-43, and recapitulates key aspects of FTLD-TDP neuropathology...
  37. doi A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study
    Ilse Gijselinck
    Department of Molecular Genetics, VIB, Antwerp, Belgium
    Lancet Neurol 11:54-65. 2012
    ..A locus on chromosome 9p21 has been associated with both disorders, and we aimed to identify the causal gene within this region...
  38. doi Serum biomarker for progranulin-associated frontotemporal lobar degeneration
    Kristel Sleegers
    Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB Flanders Institute for Biotechnology, University of Antwerp, Universiteitsplein 1, Antwerp, Belgium
    Ann Neurol 65:603-9. 2009
    ..Mutations that lead to a loss of progranulin (PGRN) explain a considerable portion of the occurrence of frontotemporal lobar degeneration. We tested a biomarker allowing rapid detection of a loss of PGRN...
  39. ncbi Glucocorticoid receptor gene-based SNP analysis in patients with recurrent major depression
    Dirk van West
    Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology VIB, University of Antwerp, Antwerp, Belgium
    Neuropsychopharmacology 31:620-7. 2006
    ..This study suggests that polymorphisms in the 5' region of the NR3C1 gene may play a role in the genetic vulnerability for MDD...
  40. doi Complement receptor 1 coding variant p.Ser1610Thr in Alzheimer's disease and related endophenotypes
    Caroline Van Cauwenberghe
    Department of Molecular Genetics, VIB, Antwerp, Belgium
    Neurobiol Aging 34:2235.e1-6. 2013
    ....
  41. doi C9orf72 G4C2 repeat expansions in Alzheimer's disease and mild cognitive impairment
    Rita Cacace
    Department of Molecular Genetics, VIB, Antwerp, Belgium
    Neurobiol Aging 34:1712.e1-7. 2013
    ..Non-pathogenic repeat length variability did not affect risk of AD or MCI, nor AD biomarker levels in CSF, indicating that C9orf72 is not a direct AD risk factor...
  42. pmc Promoter mutations that increase amyloid precursor-protein expression are associated with Alzheimer disease
    Jessie Theuns
    Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, University of Antwerp, Antwerpen, Belgium
    Am J Hum Genet 78:936-46. 2006
    ..The present study provides evidence that APP-promoter mutations that significantly increase APP expression levels are associated with AD...
  43. doi Ataxin-2 polyQ expansions in FTLD-ALS spectrum disorders in Flanders-Belgian cohorts
    Tim Van Langenhove
    Department of Molecular Genetics, VIB, Universiteitsplein 1, Antwerpen, Belgium
    Neurobiol Aging 33:1004.e17-20. 2012
    ..Our results provide further support to the notion that ATXN2 associated polyglutamine amplification is specific to the ALS-end of the FTLD-ALS disease spectrum...
  44. pmc Both common variations and rare non-synonymous substitutions and small insertion/deletions in CLU are associated with increased Alzheimer risk
    Karolien Bettens
    Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, 2610 Antwerpen, Belgium
    Mol Neurodegener 7:3. 2012
    ....
  45. doi Contribution of VPS35 genetic variability to LBD in the Flanders-Belgian population
    Aline Verstraeten
    Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Antwerp, Belgium
    Neurobiol Aging 33:1844.e11-3. 2012
    ..Hence, our data do not support a major role for VPS35 variations in the genetic etiology of Lewy body disorders in the Flanders-Belgian population...
  46. ncbi A novel locus for dementia with Lewy bodies: a clinically and genetically heterogeneous disorder
    Veerle Bogaerts
    Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Institute Born Bunge, Antwerpen, Belgium
    Brain 130:2277-91. 2007
    ..Once identified this will be the first novel causal gene for DLB and can be expected to open new avenues for biological studies of the disease process...
  47. ncbi Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALS
    Ilse Gijselinck
    Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Belgium
    Neurobiol Aging 30:1329-31. 2009
    ..Our data implicate that TDP-43 has no primary genetic role in the pathophysiological mechanisms underlying central nervous system neurodegeneration in these diseases...
  48. doi SORL1 is genetically associated with increased risk for late-onset Alzheimer disease in the Belgian population
    Karolien Bettens
    Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, University of Antwerp, Antwerpen, Belgium
    Hum Mutat 29:769-70. 2008
    ..Our findings confirm that genetic variants in SORL1 may be important risk factors for late-onset AD...
  49. pmc novoSNP, a novel computational tool for sequence variation discovery
    Stefan Weckx
    Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Antwerpen, Belgium
    Genome Res 15:436-42. 2005
    ....
  50. doi GIGYF2 has no major role in Parkinson genetic etiology in a Belgian population
    Bram Meeus
    Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, B 2610 Antwerpen, Belgium
    Neurobiol Aging 32:308-12. 2011
    ..Together, our results do not support a role for GIGYF2 in the genetic etiology of Belgian PD...
  51. doi Guanosine triphosphate cyclohydrolase 1 promoter deletion causes dopa-responsive dystonia
    Jessie Theuns
    Neurodegenerative Brain Diseases Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerp, Belgium
    Mov Disord 27:1451-6. 2012
    ..Autosomal dominant dopa-responsive dystonia (AD-DRD) is caused by a biochemical defect primarily resulting from guanosine triphosphate cyclohydrolase 1 gene (GCH1) mutations. Few families have been reported without mutations in GCH1...
  52. ncbi Frontotemporal lobar degeneration with ubiquitin-positive inclusions: a molecular genetic update
    Julie van der Zee
    Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Laboratory of Neurogenetics, Institute Born Bunge, and University of Antwerp, Antwerp, Belgium
    Neurodegener Dis 4:227-35. 2007
    ..This review focuses on the molecular genetic processes underlying FTLD-U pathology...
  53. ncbi Genetic variant in the HSPB1 promoter region impairs the HSP27 stress response
    Ines Dierick
    Peripheral Neuropathy Group, University of Antwerp, Universiteitsplein 1, Antwerpen, Belgium
    Hum Mutat 28:830. 2007
    ..Therefore, our study suggests that the functional HSPB1 variant may represent a genetic modifier in the pathogenesis of motor neuron disease; however, it is necessary to confirm this HSPB1 variant in additional ALS patients...
  54. pmc Genomewide scan for affective disorder susceptibility Loci in families of a northern Swedish isolated population
    Tine Venken
    Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology VIB, University of Antwerp, Antwerp, Belgium
    Am J Hum Genet 76:237-48. 2005
    ..These results suggest a susceptibility locus on 9q31-q33 for affective disorder in this common ancestral region...
  55. pmc TDP-43 transgenic mice develop spastic paralysis and neuronal inclusions characteristic of ALS and frontotemporal lobar degeneration
    Hans Wils
    Department of Molecular Genetics, VIB, B 2610 Antwerpen, Belgium
    Proc Natl Acad Sci U S A 107:3858-63. 2010
    ..These findings suggest that approximately 25-kDa TDP-43 CTFs are noxious to neurons by a gain of aberrant nuclear function...
  56. ncbi High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy
    Rosa Rademakers
    Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Belgium
    Hum Mol Genet 14:3281-92. 2005
    ..Thus, risk variants on different H1 htSNP haplotypes and protective variants on H2 contribute to population risk for PSP...
  57. doi Increased caspase activation and decreased TDP-43 solubility in progranulin knockout cortical cultures
    Gernot Kleinberger
    Department of Molecular Genetics, VIB, Universiteitsplein 1, Antwerpen, Belgium
    J Neurochem 115:735-47. 2010
    ..This leads to increased aggregation and accumulation of full-length TDP-43 along with its C-terminal derivatives by both caspase-dependent and independent mechanisms...
  58. pmc The genetics and neuropathology of frontotemporal lobar degeneration
    Anne Sieben
    Institute Born Bunge, University of Antwerp, Antwerpen, Belgium
    Acta Neuropathol 124:353-72. 2012
    ..In this review, we summarize the current state of the rapidly progressing field of genetic, neuropathological and clinical research of this intriguing condition...
  59. ncbi A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques
    Bart Dermaut
    Department of Molecular Genetics, Flanders Interuniversity Institute of Biotechnology VIB8, University of Antwerp, Antwerpen, Belgium
    Ann Neurol 55:617-26. 2004
    ..Our results suggest PS1 as a candidate gene for Pick-type tauopathy without MAPT mutations...
  60. ncbi APP and BACE1 miRNA genetic variability has no major role in risk for Alzheimer disease
    Karolien Bettens
    Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Antwerp, Belgium
    Hum Mutat 30:1207-13. 2009
    ..033). While the exact role of the patient-specific miRNA variants within the 3' UTR region of APP and BACE1 demands further analyses, this study does not support a major contribution of miRNA genetic variability to AD pathogenesis...
  61. ncbi No allelic association or interaction of three known functional polymorphisms with bipolar disorder in a northern Swedish isolated population
    Ann Van Den Bogaert
    Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, Antwerp, Belgium
    Psychiatr Genet 16:209-12. 2006
    ....
  62. ncbi The UBQLN1 polymorphism, UBQ-8i, at 9q22 is not associated with Alzheimer's disease with onset before 70 years
    Nathalie Brouwers
    Department of Molecular Genetics, Flanders Interuniversity Institute of Biotechnology and Institute Born Bunge, University of Antwerp, Universiteitsplein 1, Belgium
    Neurosci Lett 392:72-4. 2006
    ..Our study does not support a major role for this UBQLN1 polymorphism in AD patients with an earlier onset of disease...
  63. ncbi Tau is central in the genetic Alzheimer-frontotemporal dementia spectrum
    Bart Dermaut
    Department of Molecular Genetics VIB 8, Flanders Interuniversity Institute for Biotechnology, Neurodegenerative Brain Diseases Group, University of Antwerp, Campus Drie Eiken, Universiteitsplein 1, B 2610 Antwerpen, Belgium
    Trends Genet 21:664-72. 2005
    ..Together, these studies suggest that AD and FTD are linked in a genetic spectrum of presenile degenerative brain disorders in which tau appears to be the central player...
  64. ncbi Genomic architecture of human 17q21 linked to frontotemporal dementia uncovers a highly homologous family of low-copy repeats in the tau region
    Marc Cruts
    Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Antwerpen, Belgium
    Hum Mol Genet 14:1753-62. 2005
    ..The presence of multiple homologous LCRs in the region predicts that other potentially more complex genomic rearrangements might be underlying FTDU-17...
  65. ncbi Alzheimer-associated C allele of the promoter polymorphism -22C>T causes a critical neuron-specific decrease of presenilin 1 expression
    Jessie Theuns
    Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Universiteitsplein 1, B 2610 Antwerp, Belgium
    Hum Mol Genet 12:869-77. 2003
    ..Together, these studies provide evidence that the increased risk for AD associated with PSEN1 may result from genetic variations in the regulatory region, leading to altered expression levels of PSEN1 in neurons...
  66. ncbi Current insights into molecular mechanisms of Alzheimer disease and their implications for therapeutic approaches
    Bianca Van Broeck
    Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, University of Antwerp, Universiteitsplein I, BE 2610 Antwerp, Belgium
    Neurodegener Dis 4:349-65. 2007
    ..Secondly, considering these mechanistic insights, we will discuss some therapeutic strategies which are currently in clinical or preclinical trials for AD...
  67. ncbi SNPbox: a modular software package for large-scale primer design
    Stefan Weckx
    Department of Molecular Genetics, Bioinformatics Unit, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, B 2610 Antwerpen, Belgium
    Bioinformatics 21:385-7. 2005
    ..Of the 2500 primer sets designed by SNPbox, 95% successfully amplified genomic DNA under uniform PCR conditions...
  68. pmc Dense-core plaques in Tg2576 and PSAPP mouse models of Alzheimer's disease are centered on vessel walls
    Samir Kumar-Singh
    Department of Molecular Genetics VIB8, Neurodegenerative Brain Diseases Research Group, Molecular Neuropathology Project, University of Antwerp, Universiteitsplein 1, B 2610 Antwerp, Belgium
    Am J Pathol 167:527-43. 2005
    ....
  69. ncbi SNPbox: web-based high-throughput primer design with an eye for repetitive sequences
    Stefan Weckx
    Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology VIB, University of Antwerp, Belgium
    Methods Mol Biol 402:179-200. 2007
    ..SNPbox.org, and explain how pre-designed primers for Ensembl genes can be visualized and retrieved...
  70. ncbi The corticotropin-releasing hormone binding protein is associated with major depression in a population from Northern Sweden
    Stephan Claes
    Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, Belgium
    Biol Psychiatry 54:867-72. 2003
    ..Therefore, the gene encoding for corticotropin releasing hormone binding protein is a functional candidate gene for major depression...
  71. ncbi alpha-Synuclein promoter confers susceptibility to Parkinson's disease
    Philippe Pals
    Department of Molecular Genetics VIB8, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Belgium
    Ann Neurol 56:591-5. 2004
    ..3kb of sequence, which is overrepresented in patients. Our findings represent a biomarker for PD and may have implications for patient diagnosis, longitudinal evaluation, and treatment...
  72. doi Molecular genetics of Alzheimer's disease: an update
    Nathalie Brouwers
    Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Antwerpen, Belgium
    Ann Med 40:562-83. 2008
    ..This review provides an overview of the current understanding in the field of AD genetics, covering both the rare monogenic forms as well as recent developments in the search for novel AD susceptibility genes...
  73. doi Molecular pathways of frontotemporal lobar degeneration
    Kristel Sleegers
    Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Universiteitsplein 1, B 2610 Antwerpen, Belgium
    Annu Rev Neurosci 33:71-88. 2010
    ..g., the role of FUS in amyotrophic lateral sclerosis...
  74. doi Associations between common arginine vasopressin 1b receptor and glucocorticoid receptor gene variants and HPA axis responses to psychosocial stress in a child psychiatric population
    Dirk van West
    Department of Molecular Genetics, Applied Molecular Genomics Group, VIB, Belgium
    Psychiatry Res 179:64-8. 2010
    ..However, the small number of ER22/23EK subjects does not allow us to draw definitive conclusions about the genotypic effect...
  75. ncbi PRNP Val129 homozygosity increases risk for early-onset Alzheimer's disease
    Bart Dermaut
    Department of Molecular Genetics, Flanders Interuniversity Institute of Biotechnology VIB8, University of Antwerp, Antwerpen, Belgium
    Ann Neurol 53:409-12. 2003
    ..2; 95% CI, 1.4-7.1; p < 0.01). In patients with a positive family history, these risks increased to 2.6 (95% CI, 1.3-5.3; p < 0.01) and 3.5 (95% CI, 1.3-9.3; p = 0.01), respectively...
  76. doi Progranulin genetic variability contributes to amyotrophic lateral sclerosis
    K Sleegers
    Neurodegenerative Brain Diseases Group, VIB Department of Molecular Genetics, University of Antwerp, Universiteitsplein 1, BE 2610 Antwerpen, Belgium
    Neurology 71:253-9. 2008
    ..Here we examined PGRN genetic variability in amyotrophic lateral sclerosis (ALS), a neurodegenerative motor neuron disease that overlaps with FTD at a clinical, pathologic, and epidemiologic level...
  77. ncbi Progressive external ophthalmoplegia and multiple mitochondrial DNA deletions
    Gert Van Goethem
    Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology VIB 8, University of Antwerp UIA
    Acta Neurol Belg 102:39-42. 2002
    ..We also identified POLG mutations in two families with arPEO, which underlines the crucial role of the mtDNA replication machinery for mtDNA maintenance...
  78. ncbi Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy
    Gert Van Goethem
    Neuromuscular Reference Center and Department of Neurology, University Hospital of Antwerp UZA, Antwerpen, Belgium
    Eur J Hum Genet 11:547-9. 2003
    ..The third mutation was previously reported as a recessive POLG mutation (T251I). This finding indicates the need for POLG sequencing in patients with features of MNGIE without TP mutations...
  79. ncbi In vitro studies of Flemish, Dutch, and wild-type beta-amyloid provide evidence for two-staged neurotoxicity
    Samir Kumar-Singh
    Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, Born Bunge Foundation, University of Antwerp, B 2610 Antwerp, Belgium
    Neurobiol Dis 11:330-40. 2002
    ....
  80. ncbi Frontotemporal lobar degeneration: current concepts in the light of recent advances
    Samir Kumar-Singh
    Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, Laboratory of Neurogenetics, VIB, Institute Born Bunge and University of Antwerp, BE 2610 Antwerpen, Belgium
    Brain Pathol 17:104-14. 2007
    ..These findings are pivotal for dissecting the pathways by which different etiologies lead to the varied clinicopathological presentations of FTLD...
  81. pmc Dense-core senile plaques in the Flemish variant of Alzheimer's disease are vasocentric
    Samir Kumar-Singh
    Department of Molecular Genetics, University of Antwerp, Antwerp, Belgium
    Am J Pathol 161:507-20. 2002
    ....
  82. ncbi Progressive external ophthalmoplegia characterized by multiple deletions of mitochondrial DNA: unraveling the pathogenesis of human mitochondrial DNA instability and the initiation of a genetic classification
    Gert Van Goethem
    Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology VIB, Born Bunge Foundation BBS, University of Antwerp UIA, Antwerpen, Belgium
    Neuromolecular Med 3:129-46. 2003
    ..Since clinical presentations are heterogeneous and overlap with different previously described clinical syndromes, we advocate the use of a genetic, instead of a clinical, classification of disorders with multiple mtDNA deletions...
  83. pmc The gene encoding nicastrin, a major gamma-secretase component, modifies risk for familial early-onset Alzheimer disease in a Dutch population-based sample
    Bart Dermaut
    Department of Molecular Genetics, University of Antwerp, Universiteitsplein 1, B 2610 Antwerpen, Belgium
    Am J Hum Genet 70:1568-74. 2002
    ..1; 95% confidence interval 1.2-13.3; P=.01). These results are compatible with an important role of gamma-secretase dysfunction in the etiology of familial EOAD...
  84. ncbi Genetics of early-onset Alzheimer dementia
    Rosa Rademakers
    Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology VIB, University of Antwerp, Antwerpen, Belgium
    ScientificWorldJournal 3:497-519. 2003
    ..Now, transgenic mice are produced to study the influence of EOAD mutations in vivo, eventually leading to the development of novel therapeutic strategies...
  85. ncbi De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy
    Lieve Claes
    Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology VIB, Born Bunge Foundation, University of Antwerp UIA, Antwerpen, Belgium
    Hum Mutat 21:615-21. 2003
    ..In contrast to our previous study, most mutations are missense mutations clustering in the S4-S6 region of SCN1A. These findings demonstrate that de novo mutations in SCN1A are a major cause of isolated SMEI...
  86. ncbi Genome-wide linkage of febrile seizures and epilepsy to the FEB4 locus at 5q14.3-q23.1 and no MASS1 mutation
    Liesbet Deprez
    Neurogenetics Group, Department of Molecular Genetics VIB8, University of Antwerp, Campus Drie Eiken, Universiteitsplein 1, 2610 Antwerpen, Belgium
    Hum Genet 118:618-25. 2006
    ..However, our mutation data is negative and do not support a role for MASS1 suggesting that another gene within or near the FEB4 locus might exist...
  87. doi Loss of progranulin function in frontotemporal lobar degeneration
    Marc Cruts
    Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Antwerp, Belgium
    Trends Genet 24:186-94. 2008
    ..The high variability in onset age and age-dependent penetrance suggests that the PGRN pathway is highly susceptible to modulating factors that might be exploited to delay the disease processes...
  88. ncbi Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy
    Joy Irobi
    Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Universiteitsplein 1, B 2610 Antwerpen, Belgium
    Nat Genet 36:597-601. 2004
    ..Expression of mutant HSPB8 in cultured cells promoted formation of intracellular aggregates. Our findings provide further evidence that mutations in heat-shock proteins have an important role in neurodegenerative disorders...
  89. ncbi A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheaths
    Eva Nelis
    Department of Molecular Genetics, Flanders Interuniversity Institute of Biotechnology VIB, Born Bunge Foundation BBS, University of Antwerp UIA, Antwerp, Belgium
    Neuromuscul Disord 12:869-73. 2002
    ..This is the second homozygous missense mutation associated with recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths...
  90. doi Invited article: the Alzheimer disease-frontotemporal lobar degeneration spectrum
    Julie van der Zee
    VIB Department of Molecular Genetics, Neurodegenerative Brain Diseases Group, University of Antwerp CDE, Universiteitsplein 1, B 2610, Belgium
    Neurology 71:1191-7. 2008
    ..Herein, we focus on recent exciting findings providing further support for an AD-FTLD spectrum...
  91. ncbi Alzheimer dementia caused by a novel mutation located in the APP C-terminal intracytosolic fragment
    J Theuns
    Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, Belgium
    Hum Mutat 27:888-96. 2006
    ..Further, in vivo amyloid positron emission tomography (PET) imaging revealed significantly increased cortical amyloid deposits, supporting that in human this novel APP mutation is likely causing disease...
  92. pmc Current status on Alzheimer disease molecular genetics: from past, to present, to future
    Karolien Bettens
    Department of Molecular Genetics, Institute Born Bunge, University of Antwerp, Antwerpen, Belgium
    Hum Mol Genet 19:R4-R11. 2010
    ....
  93. ncbi Mutation analysis of 12 candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3
    Joy Irobi
    Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology VIB, Born Bunge Foundation BBS, University of Antwerp, Antwerpen, Belgium
    J Peripher Nerv Syst 7:87-95. 2002
    ....
  94. ncbi Progranulin mutations in ubiquitin-positive frontotemporal dementia linked to chromosome 17q21
    Marc Cruts
    Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Antwerp, Belgium
    Curr Alzheimer Res 3:485-91. 2006
    ..These findings open promising novel targets for therapeutic intervention against neurodegeneration...
  95. doi Molecular pathogenesis of frontotemporal lobar degeneration: basic science seminar in neurology
    Kristel Sleegers
    Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, Flanders Institute for Biotechnology, Flanders, and Laboratory of Neurogenetics, Institute Born Bunge, University of Antwerp, Antwerp, Belgium
    Arch Neurol 65:700-4. 2008
  96. ncbi Genes and loci involved in febrile seizures and related epilepsy syndromes
    Dominique Audenaert
    Department of Molecular Genetics, Neurogenetics Group, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Antwerp, Belgium
    Hum Mutat 27:391-401. 2006
    ..We also discuss the knowledge we currently have and hypotheses regarding the effect of the mutations on their respective protein functions...
  97. ncbi APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy
    Kristel Sleegers
    Neurodegenerative Brain Diseases Group Antwerp, Belgium
    Brain 129:2977-83. 2006
    ..Our findings corroborated a recent French study, and indicated that investigating genomic duplications in the APP locus in families segregating Alzheimer's disease and CAA should be considered...
  98. doi Cyclin-dependent kinase 5 is associated with risk for Alzheimer's disease in a Dutch population-based study
    Alejandro Arias-Vasquez
    Genetic Epidemiology Unit, Dept of Epidemiology and Biostatistics, Erasmus Medical Center, PO Box 2040, 3000 CA Rotterdam, The Netherlands
    J Neurol 255:655-62. 2008
    ..In our analysis, the haplotype tagged by the G allele of SNP rs2069442 was significantly associated with AD (p = 0.05). In conclusion, our study suggests that CDK5 may be associated with AD...
  99. ncbi Genetic testing has no place as a routine diagnostic test in sporadic and familial cases of Alzheimer's disease
    Tischa J M van der Cammen
    Memory Clinic, Section of Geriatric Medicine, Department of Internal Medicine, Erasmus MC, Rotterdam, The Netherlands
    J Am Geriatr Soc 52:2110-3. 2004
    ..Arguments as to why we think routine genetic assessment should not be part of the diagnostic examination of the patient suspected of Alzheimer's disease are given...
  100. ncbi Progranulin null mutations in both sporadic and familial frontotemporal dementia
    Isabelle Le Ber
    INSERM, UMR679, Paris, France
    Hum Mutat 28:846-55. 2007
    ..Taking this into account, genetic testing should be now considered more systematically, even in patients without obvious familial history of FTD...
  101. doi Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study
    Isabelle Le Ber
    1INSERM, UMR_S679 Neurologie and Thérapeutique Expérimentale, F 75013, Paris, France
    Brain 131:732-46. 2008
    ..Since all the mutations cause a progranulin haploinsufficiency, additional factors probably explain the variable clinical presentation of the disease...