Marjo S van der Knaap

Summary

Affiliation: VU University Medical Center
Country: The Netherlands

Publications

  1. pmc MLC1 is associated with the dystrophin-glycoprotein complex at astrocytic endfeet
    Ilja Boor
    Department of Pediatrics Child Neurology, VU University Medical Center, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands
    Acta Neuropathol 114:403-10. 2007
  2. ncbi request reprint Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis
    Marjo S van der Knaap
    Department of Pediatrics Child Neurology, VU University Medical Centre, Amsterdam, Netherlands
    Lancet Neurol 11:973-85. 2012
  3. doi request reprint Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations
    Marjan E Steenweg
    VU University Medical Centre, De Boelelaan 1117, Amsterdam, The Netherlands
    Brain 135:1387-94. 2012
  4. doi request reprint MRI as diagnostic tool in early-onset peroxisomal disorders
    M S van der Knaap
    Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands
    Neurology 78:1304-8. 2012
  5. ncbi request reprint Arg113His mutation in eIF2Bepsilon as cause of leukoencephalopathy in adults
    M S van der Knaap
    Department of Child Neurology, Free University Medical Center, Amsterdam, The Netherlands
    Neurology 62:1598-600. 2004
  6. ncbi request reprint Unusual variants of Alexander's disease
    Marjo S van der Knaap
    Department of Child Neurology, VU University Medical Center, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands
    Ann Neurol 57:327-38. 2005
  7. ncbi request reprint Hypomyelination with atrophy of the basal ganglia and cerebellum: follow-up and pathology
    M S van der Knaap
    Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands
    Neurology 69:166-71. 2007
  8. ncbi request reprint Neonatal porencephaly and adult stroke related to mutations in collagen IV A1
    Marjo S van der Knaap
    Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands
    Ann Neurol 59:504-11. 2006
  9. ncbi request reprint Alexander disease: ventricular garlands and abnormalities of the medulla and spinal cord
    M S van der Knaap
    Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands
    Neurology 66:494-8. 2006
  10. ncbi request reprint Vanishing white matter disease
    Marjo S van der Knaap
    Department of Pediatrics and Child Neurology, VU University Medical Center, Amsterdam, Netherlands
    Lancet Neurol 5:413-23. 2006

Detail Information

Publications76

  1. pmc MLC1 is associated with the dystrophin-glycoprotein complex at astrocytic endfeet
    Ilja Boor
    Department of Pediatrics Child Neurology, VU University Medical Center, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands
    Acta Neuropathol 114:403-10. 2007
    ..We demonstrated a direct protein interaction between MLC1 and Kir4.1. From these results we conclude that MLC1 is associated with the DGC at astrocytic endfeet...
  2. ncbi request reprint Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis
    Marjo S van der Knaap
    Department of Pediatrics Child Neurology, VU University Medical Centre, Amsterdam, Netherlands
    Lancet Neurol 11:973-85. 2012
    ..An understanding of the mechanisms of white matter oedema in MLC is emerging. Further insight into the specific function of MLC1 is necessary to find treatment targets...
  3. doi request reprint Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations
    Marjan E Steenweg
    VU University Medical Centre, De Boelelaan 1117, Amsterdam, The Netherlands
    Brain 135:1387-94. 2012
    ....
  4. doi request reprint MRI as diagnostic tool in early-onset peroxisomal disorders
    M S van der Knaap
    Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands
    Neurology 78:1304-8. 2012
    ..Brain MRI showed typical abnormalities as observed in the neonatal adrenoleukodystrophy variant of infantile peroxisomal disorders. Our aim was to evaluate the accuracy of this MRI diagnosis with further peroxisomal testing...
  5. ncbi request reprint Arg113His mutation in eIF2Bepsilon as cause of leukoencephalopathy in adults
    M S van der Knaap
    Department of Child Neurology, Free University Medical Center, Amsterdam, The Netherlands
    Neurology 62:1598-600. 2004
    ....
  6. ncbi request reprint Unusual variants of Alexander's disease
    Marjo S van der Knaap
    Department of Child Neurology, VU University Medical Center, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands
    Ann Neurol 57:327-38. 2005
    ..In conclusion, DNA diagnostics is warranted in patients who display MRI features suggestive of Alexander's disease, even if they do not meet the full set of previously established MRI criteria...
  7. ncbi request reprint Hypomyelination with atrophy of the basal ganglia and cerebellum: follow-up and pathology
    M S van der Knaap
    Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands
    Neurology 69:166-71. 2007
    ..Only a few patients have been described. We report on 11 additional patients and new MRI findings and provide histopathologic confirmation of the MRI interpretation...
  8. ncbi request reprint Neonatal porencephaly and adult stroke related to mutations in collagen IV A1
    Marjo S van der Knaap
    Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands
    Ann Neurol 59:504-11. 2006
    ..The objective of this study was to describe leukoencephalopathy, lacunar infarcts, microbleeds and macrobleeds in the context of a collagen IV A1 mutation...
  9. ncbi request reprint Alexander disease: ventricular garlands and abnormalities of the medulla and spinal cord
    M S van der Knaap
    Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands
    Neurology 66:494-8. 2006
    ..The disease is caused by mutation of the GFAP gene. Clinical and MRI phenotypic variation have been increasingly recognized...
  10. ncbi request reprint Vanishing white matter disease
    Marjo S van der Knaap
    Department of Pediatrics and Child Neurology, VU University Medical Center, Amsterdam, Netherlands
    Lancet Neurol 5:413-23. 2006
    ..Recently, undue activation of the unfolded-protein response has emerged as important in the pathophysiology of VWM, but the selective vulnerability of glia for defects in eIF2B is poorly understood...
  11. ncbi request reprint Megalencephalic leukoencephalopathy with cysts without MLC1 defect
    Marjo S van der Knaap
    Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands
    Ann Neurol 67:834-7. 2010
    ..They lacked motor decline. Five had normal intelligence; 3 displayed cognitive deficiency. In conclusion, 2 phenotypes can be distinguished among the non-MLC1 mutated MLC patients: a classical and a benign phenotype...
  12. ncbi request reprint Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter
    Marjo S van der Knaap
    Department of Child Neurology, Free University Medical Center, Amsterdam, The Netherlands
    Ann Neurol 51:264-70. 2002
    ..A defect in eIF2B may explain the sensitivity to stress factors in vanishing white matter patients...
  13. ncbi request reprint A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate
    Marjo S van der Knaap
    Department of Child Neurology, Free University Medical Center, Amsterdam, The Netherlands
    Ann Neurol 53:252-8. 2003
    ..The uniform, highly characteristic magnetic resonance imaging pattern and the similarities in clinical and magnetic resonance spectroscopy findings provide evidence for a new disease entity. Autosomal recessive inheritance is likely...
  14. pmc eIF2B-related disorders: antenatal onset and involvement of multiple organs
    Marjo S van der Knaap
    Department of Child Neurology, Free University Medical Center, Amsterdam, The Netherlands
    Am J Hum Genet 73:1199-207. 2003
    ....
  15. ncbi request reprint Cerebellar leukoencephalopathy: most likely histiocytosis-related
    M S van der Knaap
    Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands
    Neurology 71:1361-7. 2008
    ..This so-called "neurodegenerative syndrome" may occur years before or during manifest histiocytosis and also years after cure. We discovered similar MRI abnormalities in 13 patients and wondered whether they could have the same syndrome...
  16. ncbi request reprint Glia-specific activation of all pathways of the unfolded protein response in vanishing white matter disease
    Barbara Van Kollenburg
    Department of Pediatrics Child Neurology, VU University Medical Center, Amsterdam, The Netherlands
    J Neuropathol Exp Neurol 65:707-15. 2006
    ..The selective involvement of these cells suggests that inappropriate UPR activation may play a key role in the pathophysiology of VWM...
  17. ncbi request reprint Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy
    Laura van Berge
    1 Department of Child Neurology, VU University Medical Centre, Neuroscience Campus, Amsterdam, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands
    Brain 137:1019-29. 2014
    ..A compound screen established a 'proof of principle' that the splice site mutation can be influenced. This finding is promising for future therapeutic strategies. ..
  18. doi request reprint Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is associated with cell-type-dependent splicing of mtAspRS mRNA
    Laura van Berge
    Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands
    Biochem J 441:955-62. 2012
    ..The combined result of these two effects may explain the selective vulnerability of specific white matter tracts in LBSL patients...
  19. ncbi request reprint MLC1: a novel protein in distal astroglial processes
    P K Ilja Boor
    Department of Pediatrics Child Neurology, VU University Medical Center, Amsterdam, The Netherlands
    J Neuropathol Exp Neurol 64:412-9. 2005
    ..Elucidation of the function of MLC1 will contribute to a better understanding of not only the pathophysiology of the disease, but also the role of astrocytes in normal neural tissue...
  20. ncbi request reprint Pathogenic mutations causing LBSL affect mitochondrial aspartyl-tRNA synthetase in diverse ways
    Laura van Berge
    Department of Child Neurology, VU University Medical Center, De Boelalaan 1117, 1081 HV Amsterdam, The Netherlands
    Biochem J 450:345-50. 2013
    ..Most mutations have a clear impact on at least one of the properties of mtAspRS studied, probably resulting in a small contribution of the missense variants to the mitochondrial aspartylation activity in the cell...
  21. ncbi request reprint Childhood white matter disorders: quantitative MR imaging and spectroscopy
    J Patrick van der Voorn
    Department of Child Neurology, Vrije Universiteit Medical Center, De Boelelaan 1117, 1007 MB Amsterdam, The Netherlands
    Radiology 241:510-7. 2006
    ....
  22. ncbi request reprint Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1
    P K Ilja Boor
    Department of Pediatrics Child Neurology, VU University Medical Center, Amsterdam, The Netherlands
    Hum Mutat 27:505-12. 2006
    ..Therefore, we suggest extended mutation analysis for the MLC1 gene, if no mutations are found during standard analysis...
  23. ncbi request reprint The unfolded protein response in vanishing white matter disease
    J Patrick van der Voorn
    Department of Pediatrics Child Neurology, VU University Medical Center, Amsterdam, The Netherlands
    J Neuropathol Exp Neurol 64:770-5. 2005
    ..We demonstrate activation of the UPR in glia of patients with VWM. Our findings may point to a possible explanation for the dysmorphic glia, the increased numbers of oligodendrocytes, and the apoptotic loss of oligodendrocytes in VWM...
  24. pmc Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria
    Benjamin Nota
    Metabolic Unit, Department of Clinical Chemistry, Neuroscience Campus Amsterdam, VU University Medical Center, 1081 HV Amsterdam, The Netherlands
    Am J Hum Genet 92:627-31. 2013
    ..Our results identify defects in SLC25A1 as a cause of combined D-2- and L-2-hydroxyglutaric aciduria...
  25. ncbi request reprint Quantification of sugar phosphate intermediates of the pentose phosphate pathway by LC-MS/MS: application to two new inherited defects of metabolism
    Mirjam M C Wamelink
    Metabolic Unit of the Department of Clinical Chemistry, VU University Medical Centre, Amsterdam, The Netherlands
    J Chromatogr B Analyt Technol Biomed Life Sci 823:18-25. 2005
    ....
  26. pmc Unraveling pathology in juvenile Alexander disease: serial quantitative MR imaging and spectroscopy of white matter
    J Patrick van der Voorn
    Department of Child Neurology, VU University Medical Center, De Boelelaan 1117, 1007 MB, Amsterdam, The Netherlands
    Neuroradiology 51:669-75. 2009
    ....
  27. ncbi request reprint Regulation of protein synthesis in lymphoblasts from vanishing white matter patients
    Barbara Van Kollenburg
    Dept of Pediatrics Child Neurology, VU University Medical Center, Amsterdam, The Netherlands
    Neurobiol Dis 21:496-504. 2006
    ..These findings could form part of the explanation for the episodes of rapid and severe deterioration in VWM patients that are precipitated by febrile infections...
  28. ncbi request reprint New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellum
    Marjo S van der Knaap
    Department of Child Neurology, Free University Medical Center, PO Box 7057, 1007 MB Amsterdam, The Netherlands
    AJNR Am J Neuroradiol 23:1466-74. 2002
    ..Leukoencephalopathies of unknown origin constitute a considerable problem in child neurology. The purpose of our ongoing study of the subject was to define new disease entities among them by using primarily MR imaging pattern recognition...
  29. doi request reprint Leucoencephalopathy with brainstem and spinal cord involvement and high lactate: quantitative magnetic resonance imaging
    Marianne E Steenweg
    Department of Child Neurology, VU University Medical Centre, 1081 HV Amsterdam, The Netherlands
    Brain 134:3333-41. 2011
    ..We hypothesize that it is loss of water rather than structural restoration that causes the change in T(2) signal intensity, which would be in better agreement with the slow clinical deterioration...
  30. pmc Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect
    Jiddeke M van de Kamp
    Department of Clinical Genetics, VU University Medical Center, PO Box 7057, 1007 MB, Amsterdam, The Netherlands
    J Inherit Metab Dis 35:141-9. 2012
    ..After an initial improvement in locomotor and personal-social IQ subscales, no lasting clinical improvement was recorded. Additionally, we noticed an age-related decline in IQ subscales in boys affected with the CRTR defect...
  31. doi request reprint Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy
    Sietske H Kevelam
    Department of Child Neurology, VU Medical Centre, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands
    Brain 136:1534-43. 2013
    ..Recognition of the associated magnetic resonance imaging pattern allows a fast diagnosis in affected infants...
  32. doi request reprint Hyaluronan accumulation and arrested oligodendrocyte progenitor maturation in vanishing white matter disease
    Marianna Bugiani
    Department of Paediatrics Child Neurology, Neuroscience Campus Amsterdam, VU University Medical Centre, Amsterdam, The Netherlands
    Brain 136:209-22. 2013
    ....
  33. pmc Magnetic resonance imaging pattern recognition in hypomyelinating disorders
    Marjan E Steenweg
    Department of Child Neurology, VU University Medical Center, De Boelelaan 1117, Amsterdam, The Netherlands
    Brain 133:2971-82. 2010
    ....
  34. ncbi request reprint Restricted diffusion in vanishing white matter
    Hannemieke D W van der Lei
    Departments of Pediatrics Child Neurology, VU University Medical Center, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands
    Arch Neurol 69:723-7. 2012
    ..To investigate the occurrence of restricted diffusion in vanishing white matter, the affected structures,the time of occurrence in the disease course, and the histopathologic correlate...
  35. ncbi request reprint Defective translation initiation causes vanishing of cerebral white matter
    Gert C Scheper
    Department of Pediatrics, VU University Medical Center, 1081 HV Amsterdam, The Netherlands
    Trends Mol Med 12:159-66. 2006
    ..Here, we discuss the mechanisms that might be responsible for the selective involvement of the brain white matter in VWM. At present, VWM research is in need of an animal model to study disease mechanisms and therapeutic interventions...
  36. ncbi request reprint Vanishing white matter disease: a review with focus on its genetics
    Jan C Pronk
    Department of Human Genetics, VU University Medical Center, Amsterdam, The Netherlands
    Ment Retard Dev Disabil Res Rev 12:123-8. 2006
    ..The pathophysiology of the disease is still poorly understood...
  37. ncbi request reprint Histopathologic correlates of radial stripes on MR images in lysosomal storage disorders
    J Patrick van der Voorn
    Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands
    AJNR Am J Neuroradiol 26:442-6. 2005
    ....
  38. ncbi request reprint Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation
    Eline M Hamilton
    1 Department of Child Neurology, VU University Medical Centre, Neuroscience Campus Amsterdam, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands
    Brain 137:1921-30. 2014
    ..This would indicate that extrapyramidal movement abnormalities constitute the core feature of the disease spectrum related to dominant TUBB4A mutations and that all other features are variable. ..
  39. doi request reprint Leukoencephalopathy with vanishing white matter: a review
    Marianna Bugiani
    Departments of Pediatrics, VU University Medical Center, Amsterdam, The Netherlands
    J Neuropathol Exp Neurol 69:987-96. 2010
    ..In view of the fact that VWM genes are housekeeping genes, it is surprising that the disease is primarily a leukoencephalopathy. The pathophysiology of selective glial vulnerability in VWM remains poorly understood...
  40. doi request reprint Megalencephalic leucoencephalopathy with cysts: defect in chloride currents and cell volume regulation
    Margreet C Ridder
    Department of Child Neurology, VU University Medical Center, 1081 HV Amsterdam, The Netherlands
    Brain 134:3342-54. 2011
    ....
  41. pmc Novel infantile-onset leukoencephalopathy with high lactate level and slow improvement
    Marjan E Steenweg
    Departments of Child Neurology, VU University Medical Center, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands
    Arch Neurol 69:718-22. 2012
    ..To describe a novel pattern of magnetic resonance imaging (MRI) abnormalities as well as the associated clinical and laboratory findings...
  42. ncbi request reprint Evaluation of pentitol metabolism in mammalian tissues provides new insight into disorders of human sugar metabolism
    Jojanneke H J Huck
    Department of Child Neurology, VU University Medical Centre, Amsterdam, The Netherlands
    Mol Genet Metab 82:231-7. 2004
    ..3 to 6.1 pmol NADH/min/microl erythrocytes observed using sorbitol and xylitol. Our results indicate that ribitol and arabitol are metabolic end products in humans...
  43. pmc Novel (ovario) leukodystrophy related to AARS2 mutations
    Cristina Dallabona
    From the Department of Life Sciences C D, E B, I F, University of Parma Unit of Molecular Neurogenetics D D, L M, C L, D G, SOSD Genetics of Neurodegenerative and Metabolic Diseases C M, and Departments of Clinical Neurosciences E S and Neuroradiology M S, Fondazione Istituto Neurologico Carlo Besta, Istituto di Ricovero e Cura a Carattere Scientifico, Milan, Italy Department of Child Neurology S H K, E M H, T E M A, N I W, M S v d K, Department of Clinical Chemistry, Metabolic Unit G S S, Neuroscience Campus Amsterdam, and Department of Functional Genomics, Center for Neurogenomics and Cognitive Research M S v d K, VU University Medical Center, Amsterdam, the Netherlands Institute of Human Genetics T B H, T M S, T M, H P, Technical University, Munich Institute of Human Genetics T B H, T M S, T M, H P, Helmholtz Zentrum Munich, Japan
    Neurology 82:2063-71. 2014
    ....
  44. ncbi request reprint Mutations in RARS cause hypomyelination
    Nicole I Wolf
    Department of Child Neurology, VU University Medical Center, Amsterdam Neuroscience Campus Amsterdam, Amsterdam
    Ann Neurol 76:134-9. 2014
    ..RARS encodes the cytoplasmic arginyl-tRNA synthetase, an enzyme essential for RNA translation. This protein is among the subunits of the multisynthetase complex, which emerges as a key player in myelination. Ann Neurol 2014;76:134-139. ..
  45. pmc Progress in understanding 2-hydroxyglutaric acidurias
    Martijn Kranendijk
    Metabolic Unit Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands
    J Inherit Metab Dis 35:571-87. 2012
    ....
  46. ncbi request reprint Leukoencephalopathy with vanishing white matter: from magnetic resonance imaging pattern to five genes
    Peter A J Leegwater
    Department of Child Neurology, Free University Medical Center, Amsterdam, The Netherlands
    J Child Neurol 18:639-45. 2003
    ..This gene encodes one of the five subunits of the translation factor eIF2B. Patients without mutations in the EIF2B5 gene were found to be mutated in one of the other genes that encode eIF2B subunits: EIF2B1 to EIF2B4...
  47. doi request reprint Analysis of CLCN2 as candidate gene for megalencephalic leukoencephalopathy with subcortical cysts
    Gert C Scheper
    Department of Pediatrics, VU University Medical Center, Amsterdam, The Netherlands
    Genet Test Mol Biomarkers 14:255-7. 2010
    ..Further, in electrophysiological experiments, one of the observed amino acid changes was shown to have no effect on the ClC-2-mediated currents. In conclusion, we found no evidence suggesting that the CLCN2 gene is involved in MLC...
  48. pmc Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy
    Jojanneke H J Huck
    Department of Child Neurology, Vrije Universiteit Medical Center, Amsterdam, The Netherlands
    Am J Hum Genet 74:745-51. 2004
    ..RPI is the second known inborn error in the reversible phase of the PPP, confirming that defects in pentose and polyol metabolism constitute a new area of inborn metabolic disorders...
  49. doi request reprint Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency
    Ofir T Betsalel
    Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands
    Neurogenetics 9:183-90. 2008
    ..This study indicates DHPLC as an important tool in the detection of low-level mosaicism, as does it illustrate the importance of considering somatic and germline mosaicism in the case of apparent de novo mutation...
  50. ncbi request reprint Translation matters: protein synthesis defects in inherited disease
    Gert C Scheper
    Department of Child Neurology Center for Neurogenomics and Cognitive Research, Vrije Universiteit Medical Center, De Boelelaan 1117, 1081HV Amsterdam, The Netherlands
    Nat Rev Genet 8:711-23. 2007
    ..Given the numerous proteins involved in mRNA translation, it is likely that further inherited diseases will turn out to be caused by mutations in genes that are involved in this complex process...
  51. ncbi request reprint Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing
    Benjamin Nota
    Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands
    J Med Genet 50:754-9. 2013
    ..In one D-2HGA case we identified mosaicism for an IDH2 mutation as the genetic cause of this disorder; the other D-2HGA case was caused by a heterozygous IDH2 mutation, while the unaffected mother was a mosaic carrier...
  52. pmc NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern
    Sietske H Kevelam
    Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands
    Neurology 80:1577-83. 2013
    ..To identify the mutated gene in a group of patients with an unclassified heritable white matter disorder sharing the same, distinct MRI pattern...
  53. pmc Defective glial maturation in vanishing white matter disease
    Marianna Bugiani
    Department of Pediatrics Child Neurology, VU University Medical Center, Amsterdam, The Netherlands
    J Neuropathol Exp Neurol 70:69-82. 2011
    ..We also demonstrated a significant increase in numbers of premyelinating oligodendrocyte progenitors in VWM, which may explain the coexistence of oligodendrocytosis and myelin paucity in the patients' white matter...
  54. doi request reprint Novel hypomyelinating leukoencephalopathy affecting early myelinating structures
    Marjan E Steenweg
    Department of Child Neurology, VU University Medical Center, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands
    Arch Neurol 69:125-8. 2012
    ..To describe 4 children with a novel hypomyelinating leukoencephalopathy, defined by a distinct pattern of magnetic resonance imaging (MRI) abnormalities...
  55. doi request reprint IDH2 mutations in patients with D-2-hydroxyglutaric aciduria
    Martijn Kranendijk
    Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, 1081 HV Amsterdam, Netherlands
    Science 330:336. 2010
    ..These findings provide additional impetus for investigating the role of D-2-HG in the pathophysiology of metabolic disease and cancer...
  56. ncbi request reprint Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
    Gert C Scheper
    Department of Pediatrics and Child Neurology, Vrije University Medical Center, 1081 HV Amsterdam, The Netherlands
    Nat Genet 39:534-9. 2007
    ..Enzyme activities of mutant proteins were decreased. We were surprised to find that activities of mitochondrial complexes from fibroblasts and lymphoblasts derived from affected individuals were normal, as determined by different assays...
  57. doi request reprint Improvement of white matter changes on neuroimaging modalities after stem cell transplant in metachromatic leukodystrophy
    Martje E van Egmond
    Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands
    JAMA Neurol 70:779-82. 2013
    ..We sought to illustrate improvement of cerebral white matter changes in metachromatic leukodystrophy after treatment with hematopoietic stem cell transplant (HSCT)...
  58. doi request reprint L-2-Hydroxyglutaric aciduria: pattern of MR imaging abnormalities in 56 patients
    Marjan E Steenweg
    Dept of Child Neurology, VU Univ Medical Ctr, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands
    Radiology 251:856-65. 2009
    ..To describe the pattern of magnetic resonance (MR) imaging abnormalities in l-2-hydroxyglutaric aciduria (L2HGA) and to evaluate the correlation between imaging abnormalities and disease duration...
  59. ncbi request reprint Effectiveness of selective dorsal rhizotomy in 2 patients with progressive spasticity due to neurodegenerative disease
    Sebastian Grunt
    Department of Rehabilitation Medicine, VU University Medical Center, Amsterdam, The Netherlands
    J Child Neurol 23:818-22. 2008
    ..Selective dorsal rhizotomy leads to a disappearance of leg spasticity in patients with a neurodegenerative disease. Other motor signs are not influenced and may increase due to the progressive nature of the underlying disease...
  60. ncbi request reprint Fright is a provoking factor in vanishing white matter disease
    Gerre Vermeulen
    Department of Pediatrics Child Neurology, Vrije Universiteit Medical Center, Amsterdam, The Netherlands
    Ann Neurol 57:560-3. 2005
    ..These episodes typically are provoked by febrile infections or minor head trauma. We report on two patients who experienced an episode of rapid neurological deterioration after a fright...
  61. ncbi request reprint Enzyme assay for diagnosis of guanidinoacetate methyltransferase deficiency
    Nanda M Verhoeven
    Department of Child Neurology, VU University Medical Center, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands
    Clin Chem 50:441-3. 2004
  62. doi request reprint Characteristics of early MRI in children and adolescents with vanishing white matter
    Hannemieke D van der Lei
    Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands
    Neuropediatrics 43:22-6. 2012
    ..MRI in vanishing white matter typically shows diffuse abnormality of the cerebral white matter, which becomes increasingly rarefied and cystic. We investigated the MRI characteristics preceding this stage...
  63. ncbi request reprint An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study
    Marjan E Steenweg
    Department of Child Neurology and VU University Medical Center, De Boelelaan 1117, Amsterdam, The Netherlands
    Hum Mutat 31:380-90. 2010
    ..nl/L2HGDH). Every user can access the database and submit variants/patients. Furthermore, we report on the phenotype, including neurological manifestations and urinary levels of L2HG, and we evaluate the phenotype-genotype relationship...
  64. ncbi request reprint The leukoencephalopathy of infantile GM1 gangliosidosis: oligodendrocytic loss and axonal dysfunction
    J Patrick van der Voorn
    Department of Pathology, Vrije Universiteit Medical Center, DeBoelelaan 1117, 1007 MB, Amsterdam, The Netherlands
    Acta Neuropathol 107:539-45. 2004
    ..These data suggest that the myelin deficit results from a loss of oligodendrocytes and abnormal axoplasmic transport, perhaps consequent to massive neuronal storage of GM1...
  65. ncbi request reprint Pattern of white matter abnormalities at MR imaging: use of polymerase chain reaction testing of Guthrie cards to link pattern with congenital cytomegalovirus infection
    Marjo S van der Knaap
    Department of Child Neurology, Vrije Universiteit Medical Center, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands
    Radiology 230:529-36. 2004
    ..To define a magnetic resonance (MR) imaging pattern suggestive of congenital cytomegalovirus (CMV) infection by using polymerase chain reaction (PCR) testing to detect CMV DNA in neonatal blood on Guthrie cards for validation...
  66. ncbi request reprint Do carriers of POLG mutation W748S have disease manifestations?
    M Rantamaki
    Department of Physical Medicine and Rehabilitation, Seinajoki Central Hospital, Seinajoki, Finland
    Clin Genet 72:532-7. 2007
    ..In conclusion, W748S heterozygotes showed no clinically manifesting phenotype...
  67. ncbi request reprint A distinct phenotype of distal myopathy in a large Finnish family
    I Mahjneh
    Department of Neurology, Oulu University Hospital, Finland
    Neurology 61:87-92. 2003
    ..The authors carried out clinical, histopathologic, immunocytochemical, electrophysiologic, and imaging investigations and molecular genetic analysis in seven patients with distal myopathy belonging to a Finnish family...
  68. ncbi request reprint Independent component analysis to proton spectroscopic imaging data of human brain tumours
    J Pulkkinen
    Department of Biomedical NMR, A I Virtanen Institute, University of Kuopio, Finland
    Eur J Radiol 56:160-4. 2005
    ..To this end, 10 controls and 34 patients with primary brain tumours were studied. The results indicate that ICA may reveal useful information from metabolic profiling for clinical purposes using long echo time MRSI of gliomas...
  69. ncbi request reprint Cerebral amyloid angiopathy in a 95+ cohort: complement activation and apolipoprotein E (ApoE) genotype
    M Tanskanen
    Department of Pathology, University of Helsinki, Helsinki University Central Hospital, Finland
    Neuropathol Appl Neurobiol 31:589-99. 2005
    ..Our results demonstrate a strong association between CAA and ApoE epsilon4 as well as dementia and suggest that the contribution of CAA to dementia is largely independent of ApoE epsilon4...
  70. ncbi request reprint Cerebroretinal microangiopathy with calcifications and cysts
    T Linnankivi
    Department of Pediatric Neurology, Hospital for Children and Adolescents, University of Helsinki, Stenbackinkatu 11, FIN 00290 Helsinki, Finland
    Neurology 67:1437-43. 2006
    ....
  71. ncbi request reprint Ezrin expression in tissue microarray of primary and recurrent gliomas
    O Tynninen
    Department of Pathology, Haartman Institute, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland
    Neuropathol Appl Neurobiol 30:472-7. 2004
    ..05). However, ezrin was not an independent prognostic factor. The results of this study show that ezrin expression is associated with progression of gliomas and correlates with histological cell type and WHO tumour grade...
  72. ncbi request reprint Peroxiredoxins and antioxidant enzymes in pilocytic astrocytomas
    K Nordfors
    Department of Pathology, Center for Laboratory Medicine, Tampere University Hospital, P O Box 2000, 33521 Tampere, Finland
    Clin Neuropathol 26:210-8. 2007
    ..In this study, their biology and clinical significance were examined in pilocytic astrocytomas (PAs)...
  73. ncbi request reprint Evolution of cerebral tumor necrosis factor-alpha production during human ischemic stroke
    T Sairanen
    Department of Clinical Neurosciences, Helsinki University Central Hospital, University of Western Ontario, London, Ontario, Canada
    Stroke 32:1750-8. 2001
    ..CONCLUSIONS: The data support the hypothesis that TNF-alpha may be involved both in the acute propagation of inflammatory processes and cell death and possibly in the more delayed reconstitutive processes of human ischemic stroke...
  74. ncbi request reprint Variant Alzheimer disease with spastic paraparesis: neuropathological phenotype
    A Verkkoniemi
    Department of Pathology, University of Helsinki and Helsinki University Central Hospital, Finland
    J Neuropathol Exp Neurol 60:483-92. 2001
    ....
  75. pmc High expression of stanniocalcin in differentiated brain neurons
    K Z Zhang
    Department of Pathology, Haartman Institute, University of Helsinki, Finland
    Am J Pathol 153:439-45. 1998
    ..Given that STC has been found to regulate calcium/phosphate metabolism in some mammalian epithelia, we suggest that STC may act as a regulator of calcium homeostasis in terminally differentiated brain neurons...
  76. ncbi request reprint Pathology of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation
    T Tyni
    Department of Child Neurology, Children s Hospital, University of Helsinki, Finland
    Pediatr Pathol Lab Med 17:427-47. 1997
    ..The uniform pattern of histopathologic changes facilitates the diagnostics in this severe disorder, allowing opportunities for therapy and prenatal diagnosis...