Leonard H van den Berg

Summary

Affiliation: University Medical Center Utrecht
Country: The Netherlands

Publications

  1. pmc MMN: from immunological cross-talk to conduction block
    Oliver Harschnitz
    Department of Neurology and Neurosurgery, UMC Utrecht Brain Center Rudolf Magnus, Utrecht, 3584 CG, The Netherlands
    J Clin Immunol 34:S112-9. 2014
  2. pmc Motor network degeneration in amyotrophic lateral sclerosis: a structural and functional connectivity study
    Esther Verstraete
    Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Centre Utrecht, Utrecht, The Netherlands
    PLoS ONE 5:e13664. 2010
  3. pmc Genetic overlap between apparently sporadic motor neuron diseases
    Marka van Blitterswijk
    Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands
    PLoS ONE 7:e48983. 2012
  4. pmc SMN1 gene duplications are associated with sporadic ALS
    H M Blauw
    Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands
    Neurology 78:776-80. 2012
  5. ncbi request reprint Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases
    Wouter van Rheenen
    Department of Neurology, Rudolph Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht
    Neurology 79:878-82. 2012
  6. ncbi request reprint A long-term prospective study of the natural course of sporadic adult-onset lower motor neuron syndromes
    Renske M Van den Berg-Vos
    Department of Neurology, St Lucas Andreas Hospital, PO Box 9243, 1006 AE Amsterdam, The Netherlands
    Arch Neurol 66:751-7. 2009
  7. pmc Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS
    Frank P Diekstra
    Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands
    PLoS ONE 7:e35333. 2012
  8. ncbi request reprint Drug treatment for spinal muscular atrophy types II and III
    Renske I Wadman
    Department of Neurology, University Medical Center Utrecht, Utrecht, Netherlands
    Cochrane Database Syst Rev 4:CD006282. 2012
  9. ncbi request reprint Randomized sequential trial of valproic acid in amyotrophic lateral sclerosis
    Sanne Piepers
    Department of Neurology, Rudolf Magnus Institute of Neuroscience University Medical Centre Utrecht, Utrecht, The Netherlands
    Ann Neurol 66:227-34. 2009
  10. ncbi request reprint Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis
    Michael A van Es
    Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht 3584 CX, The Netherlands
    Nat Genet 40:29-31. 2008

Detail Information

Publications92

  1. pmc MMN: from immunological cross-talk to conduction block
    Oliver Harschnitz
    Department of Neurology and Neurosurgery, UMC Utrecht Brain Center Rudolf Magnus, Utrecht, 3584 CG, The Netherlands
    J Clin Immunol 34:S112-9. 2014
    ..In this review, we will discuss the current understanding of the immune pathogenesis underlying MMN and how this may cause CB, available treatment strategies and future therapeutic targets. ..
  2. pmc Motor network degeneration in amyotrophic lateral sclerosis: a structural and functional connectivity study
    Esther Verstraete
    Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Centre Utrecht, Utrecht, The Netherlands
    PLoS ONE 5:e13664. 2010
    ..How this disease affects the central motor network is largely unknown. Here, we combined for the first time structural and functional imaging measures on the motor network in patients with ALS and healthy controls...
  3. pmc Genetic overlap between apparently sporadic motor neuron diseases
    Marka van Blitterswijk
    Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands
    PLoS ONE 7:e48983. 2012
    ..R69Q). The mutation frequency of these genes was similar in sporadic PMA (2.7%) and ALS (2.0%) patients, and therefore, our findings demonstrate a genetic overlap between apparently sporadic PMA and ALS...
  4. pmc SMN1 gene duplications are associated with sporadic ALS
    H M Blauw
    Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands
    Neurology 78:776-80. 2012
    ..To investigate the role of SMN1 and SMN2 copy number variation and point mutations in amyotrophic lateral sclerosis (ALS) pathogenesis in a large population...
  5. ncbi request reprint Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases
    Wouter van Rheenen
    Department of Neurology, Rudolph Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht
    Neurology 79:878-82. 2012
    ....
  6. ncbi request reprint A long-term prospective study of the natural course of sporadic adult-onset lower motor neuron syndromes
    Renske M Van den Berg-Vos
    Department of Neurology, St Lucas Andreas Hospital, PO Box 9243, 1006 AE Amsterdam, The Netherlands
    Arch Neurol 66:751-7. 2009
    ..To determine the natural course of sporadic adult-onset lower motor neuron syndrome in a long-term prospective study of patients with the syndrome...
  7. pmc Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS
    Frank P Diekstra
    Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands
    PLoS ONE 7:e35333. 2012
    ..Mutations in CYP27A1 are causal to cerebrotendinous xanthomatosis which can present as a clinical mimic of ALS with progressive upper motor neuron loss, making it a plausible susceptibility gene for ALS...
  8. ncbi request reprint Drug treatment for spinal muscular atrophy types II and III
    Renske I Wadman
    Department of Neurology, University Medical Center Utrecht, Utrecht, Netherlands
    Cochrane Database Syst Rev 4:CD006282. 2012
    ..There are no known efficacious drug treatments that influence the disease course of SMA. This is an update of a review first published in 2009...
  9. ncbi request reprint Randomized sequential trial of valproic acid in amyotrophic lateral sclerosis
    Sanne Piepers
    Department of Neurology, Rudolf Magnus Institute of Neuroscience University Medical Centre Utrecht, Utrecht, The Netherlands
    Ann Neurol 66:227-34. 2009
    ....
  10. ncbi request reprint Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis
    Michael A van Es
    Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht 3584 CX, The Netherlands
    Nat Genet 40:29-31. 2008
    ..30 (95% confidence interval (CI) of 1.18-1.43). Our finding is the first report of a genome-wide significant association with sporadic ALS and may be a target for future functional studies...
  11. ncbi request reprint VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient
    Marka van Blitterswijk
    Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, The Netherlands
    Neurobiol Aging 33:2950.e1-4. 2012
    ..V234I mutation was absent in control subjects, located in a region with high evolutionary conservation, and predicted to have damaging effects. Taken together, these findings provide additional evidence for an oligogenic basis of ALS...
  12. ncbi request reprint Lifetime physical activity and the risk of amyotrophic lateral sclerosis
    Mark H B Huisman
    Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Centre Utrecht, Utrecht, The Netherlands
    J Neurol Neurosurg Psychiatry 84:976-81. 2013
    ..In a population based study, we determined the relation between physical activity and risk of sporadic ALS, using an objective approach for assessing physical activity...
  13. ncbi request reprint Smoking, alcohol consumption, and the risk of amyotrophic lateral sclerosis: a population-based study
    Sonja W de Jong
    Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, The Netherlands
    Am J Epidemiol 176:233-9. 2012
    ..The importance of population-based incident patient cohorts in identifying risk factors is highlighted by this study...
  14. ncbi request reprint UNC13A is a modifier of survival in amyotrophic lateral sclerosis
    Frank P Diekstra
    Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, 3584 CX, Utrecht, The Netherlands
    Neurobiol Aging 33:630.e3-8. 2012
    ..In both cohorts, the minor allele of rs12608932 in UNC13A was not only associated with susceptibility but also with shorter survival of ALS patients. Our results further corroborate the role of UNC13A in ALS pathogenesis...
  15. ncbi request reprint Leukocyte and complement activation by GM1-specific antibodies is associated with acute motor axonal neuropathy in rabbits
    Nina M van Sorge
    Department of Immunology, University Medical Center Utrecht, Lundlaan 6, 3584 EA Utrecht, The Netherlands
    J Neuroimmunol 182:116-23. 2007
    ..Furthermore, GM1-specific IgG-mediated activation of leukocytes was detected before the onset of clinical signs. These data suggest that AMAN only occurs in rabbits that develop GM1-specific antibodies with pro-inflammatory properties...
  16. ncbi request reprint Parental age and the risk of amyotrophic lateral sclerosis
    Sonja W de Jong
    Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, The Netherlands
    Amyotroph Lateral Scler Frontotemporal Degener 14:224-7. 2013
    ..Epi)genetic alterations that are associated with increased parental age are not, therefore, likely to contribute to the aetiology of sporadic ALS...
  17. ncbi request reprint Differentiation of hereditary spastic paraparesis from primary lateral sclerosis in sporadic adult-onset upper motor neuron syndromes
    Frans Brugman
    Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands
    Arch Neurol 66:509-14. 2009
    ..Differentiation between these diseases is important for genetic counseling and prognostication...
  18. ncbi request reprint CGG-repeat expansion in FMR1 is not associated with amyotrophic lateral sclerosis
    Ewout J N Groen
    Department of Neurology, University Medical Center Utrecht, Utrecht, The Netherlands
    Neurobiol Aging 33:1852.e1-3. 2012
    ..The present investigation involves screening FMR1 repeat length in 742 sporadic ALS patients and 792 matched controls. Our conclusion is that FMR1 repeat expansions are not associated with ALS...
  19. ncbi request reprint Functioning of patients with multifocal motor neuropathy
    Peter G Erdmann
    Department of Neurology and Neurosurgery, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands
    J Peripher Nerv Syst 15:113-9. 2010
    ..Assessment of determinants of patient functioning may make it possible to tailor interventions to address these aspects and thereby improve patients' functioning in daily life...
  20. ncbi request reprint UBQLN2 in familial amyotrophic lateral sclerosis in The Netherlands
    Perry T C van Doormaal
    Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, The Netherlands
    Neurobiol Aging 33:2233.e7-2233.e8. 2012
    ..Eight families were excluded because of male-to-male transmission. In the remaining 84 familial ALS cases no mutations were discovered in UBQLN2. Hence, UBQLN2 was not found to be a cause of familial ALS in the Netherlands...
  21. ncbi request reprint Lithium lacks effect on survival in amyotrophic lateral sclerosis: a phase IIb randomised sequential trial
    Esther Verstraete
    Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Centre Utrecht, Utrecht, The Netherlands
    J Neurol Neurosurg Psychiatry 83:557-64. 2012
    ..To determine the safety and efficacy of lithium for the treatment of amyotrophic lateral sclerosis (ALS) in a randomised, placebo controlled, double blind, sequential trial...
  22. ncbi request reprint H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis
    Wouter van Rheenen
    Department of Neurology, Rudolph Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands
    Neurobiol Aging 34:1517.e5-7. 2013
    ..After meta-analysis of previous studies and current findings we conclude that the H63D polymorphism in HFE is not associated with susceptibility to ALS, age at disease onset, or survival...
  23. ncbi request reprint Ciliary neurotrophic factor null alleles are not a risk factor for Charcot-Marie-Tooth disease, hereditary neuropathy with pressure palsies and amyotrophic lateral sclerosis
    Paul W J Van Vught
    Rudolf Magnus Institute of Neuroscience, Department of Neurology, University Medical Center Utrecht, Utrecht, The Netherlands
    Neuromuscul Disord 17:964-7. 2007
    ..All groups exhibited a similar distribution of the polymorphism. We conclude that absence of CNTF does not increase susceptibility for these disorders and confirm that it does not affect onset and course of familial and sporadic ALS...
  24. ncbi request reprint Novel optineurin mutations in sporadic amyotrophic lateral sclerosis patients
    Marka van Blitterswijk
    Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands
    Neurobiol Aging 33:1016.e1-7. 2012
    ..SNP analysis did not reveal significant differences between ALS patients and control subjects. Therefore, variations in OPTN appear to be a rare cause of rapidly progressive SALS in the Netherlands...
  25. ncbi request reprint Analysis of FGGY as a risk factor for sporadic amyotrophic lateral sclerosis
    Michael A van Es
    Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Centre Utrecht, Heidelbergaan 100, Utrecht, The Netherlands
    Amyotroph Lateral Scler 10:441-7. 2009
    ..14). We concluded that common genetic variation in FGGY is not associated with susceptibility to sporadic ALS in genetically homogeneous populations from northern Europe...
  26. ncbi request reprint Gene expression profile of SOD1-G93A mouse spinal cord, blood and muscle
    Christiaan G J Saris
    Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands
    Amyotroph Lateral Scler Frontotemporal Degener 14:190-8. 2013
    ..We conclude that blood gene expression profile overlapped with profile of spinal cord, allowing differentiation of SOD1-G93A mice from wild-type littermates. Blood gene expression profiling may be a promising biomarker for ALS patients...
  27. ncbi request reprint Screening for rare variants in the coding region of ALS-associated genes at 9p21.2 and 19p13.3
    Max Koppers
    Rudolf Magnus Institute of Neuroscience, Department of Neurology, University Medical Center Utrecht, Utrecht, The Netherlands
    Neurobiol Aging 34:1518.e5-7. 2013
    ..None of the genes showed significant enrichment of rare variants in the coding sequence. Rare variants in the coding region of UNC13a, IFNK, MOBKL2b, and C9ORF72 are unlikely to be a genetic cause of ALS...
  28. ncbi request reprint NIPA1 polyalanine repeat expansions are associated with amyotrophic lateral sclerosis
    Hylke M Blauw
    Department of Neurology, University Medical Center Utrecht, Heidelberglaan, Utrecht, The Netherlands
    Hum Mol Genet 21:2497-502. 2012
    ..6 years earlier. Our data show that NIPA1 polyalanine repeat expansions are a common risk factor for ALS and modulate disease course...
  29. pmc Common inversion polymorphism at 17q21.31 affects expression of multiple genes in tissue-specific manner
    Simone de Jong
    Department of Medical Genetics, University Medical Center Utrecht, Utrecht3584 CG, The Netherlands
    BMC Genomics 13:458. 2012
    ..31 microdeletion syndrome, a disease characterized by developmental delay and learning disability...
  30. ncbi request reprint Copy-number variation in sporadic amyotrophic lateral sclerosis: a genome-wide screen
    Hylke M Blauw
    Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, Netherlands
    Lancet Neurol 7:319-26. 2008
    ....
  31. ncbi request reprint ALS-associated mutations in FUS disrupt the axonal distribution and function of SMN
    Ewout J N Groen
    Department of Neuroscience and Pharmacology, Rudolf Magnus Institute of Neuroscience, University Medical Centre Utrecht, Utrecht, The Netherlands
    Hum Mol Genet 22:3690-704. 2013
    ....
  32. ncbi request reprint Exposure to chemicals and metals and risk of amyotrophic lateral sclerosis: a systematic review
    Nadia A Sutedja
    Department of Neurology, University Medical Centre Utrecht, Utrecht, The Netherlands
    Amyotroph Lateral Scler 10:302-9. 2009
    ..Although pesticide exposure was identified as candidate risk factor, more well-designed studies are needed to provide a definitive answer about exogenous factors of ALS...
  33. ncbi request reprint Rare and common paraoxonase gene variants in amyotrophic lateral sclerosis patients
    Marka van Blitterswijk
    Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands
    Neurobiol Aging 33:1845.e1-3. 2012
    ..Thus, this study does not support the premise that mutations or polymorphisms in PON contribute to ALS susceptibility...
  34. ncbi request reprint Population based epidemiology of amyotrophic lateral sclerosis using capture-recapture methodology
    Mark H B Huisman
    Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Centre Utrecht, Utrecht, The Netherlands
    J Neurol Neurosurg Psychiatry 82:1165-70. 2011
    ..The previously reported incidence decline in the elderly and a decrease in the male:female ratio in postmenopausal age groups have yet to be confirmed...
  35. ncbi request reprint Ganglioside-specific IgG and IgA recruit leukocyte effector functions in Guillain-Barré syndrome
    Nina M van Sorge
    Department of Immunology, University Medical Center Utrecht, Lundlaan 6, 3584 EA Utrecht, The Netherlands
    J Neuroimmunol 182:177-84. 2007
    ..Therefore, both ganglioside-specific IgG and IgA can recruit leukocyte effector functions, which may be relevant in the pathogenesis of GBS and MFS...
  36. ncbi request reprint The association between H63D mutations in HFE and amyotrophic lateral sclerosis in a Dutch population
    Nadia A Sutedja
    Department of Neurology, University Medical Center Utrecht, Utrecht, The Netherlands
    Arch Neurol 64:63-7. 2007
    ..Mutations in HFE, a gene defect that can disrupt iron metabolism, have been implicated in increasing the risk of developing amyotrophic lateral sclerosis (ALS)...
  37. ncbi request reprint Evidence for an oligogenic basis of amyotrophic lateral sclerosis
    Marka van Blitterswijk
    Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Centre Utrecht, Utrecht 3584 CX, The Netherlands
    Hum Mol Genet 21:3776-84. 2012
    ..This may have important implications for the interpretation of whole exome/genome experiments designed to identify new ALS-associated genes and for genetic counselling, especially of unaffected family members...
  38. pmc Intravenous immunoglobulin treatment in multifocal motor neuropathy
    W Ludo van der Pol
    Rudolf Magnus Institute of Neuroscience, Department of Neurology, University Medical Center Utrecht, Heidelberglaan 100, Utrecht, The Netherlands
    J Clin Immunol 30:S79-83. 2010
    ..Conduction block is the inability of nerves to propagate action potentials and is probably caused by immune-mediated dysfunction of the axon at the nodes of Ranvier or the myelin sheath. MMN immune pathogenesis has not been elucidated...
  39. ncbi request reprint FUS mutations in familial amyotrophic lateral sclerosis in the Netherlands
    Ewout J N Groen
    Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Heidelberglaan, Utrecht, The Netherlands
    Arch Neurol 67:224-30. 2010
    ..To assess the frequency of FUS mutations in 52 probands with familial amyotrophic lateral sclerosis (FALS) and to provide careful documentation of clinical characteristics...
  40. ncbi request reprint VCP mutations in familial and sporadic amyotrophic lateral sclerosis
    Max Koppers
    Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands
    Neurobiol Aging 33:837.e7-13. 2012
    ..Conservation analysis and protein prediction software indicate the p.I114V mutation to be a rare benign polymorphism. VCP mutations are a rare cause of familial ALS. The role of VCP mutations in sporadic ALS, if present, appears limited...
  41. ncbi request reprint Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis
    Michael A van Es
    Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands
    Nat Genet 41:1083-7. 2009
    ..01 x 10(-8)) in the combined analysis of both stages. These SNPs are located at chromosome 9p21.2, in a linkage region for familial ALS with frontotemporal dementia found previously in several large pedigrees...
  42. ncbi request reprint Effect of non-invasive ventilation on survival, quality of life, respiratory function and cognition: a review of the literature
    Sanne Piepers
    Department of Neurology, Rudolph Magnus Institute of Neuroscience, University Medical Centre Utrecht, Utrecht, The Netherlands
    Amyotroph Lateral Scler 7:195-200. 2006
    ..All studies suggest a beneficial effect on QoL and other outcome measures (Evidence level Class II-III). Well-designed randomized controlled trials comparing the effect on QoL and survival have not been performed...
  43. pmc A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder
    Bert van der Zwaag
    Department of Neuroscience and Pharmacology, Rudolf Magnus Institute of Neuroscience, UMC Utrecht, Utrecht, The Netherlands
    Am J Med Genet B Neuropsychiatr Genet 153:960-6. 2010
    ..247), which suggests that our findings should be interpreted with caution and indicates the need for studies that include large numbers of control subjects to ascertain the impact of these changes on a population scale...
  44. ncbi request reprint Drug treatment for spinal muscular atrophy types II and III
    Renske I Wadman
    Department of Neurology, University Medical Center Utrecht, Rudolf Magnus Institute for Neuroscience, Universiteitsweg 100, Utrecht, Netherlands, 3584 CG
    Cochrane Database Syst Rev 12:CD006282. 2011
    ..There are no known efficacious drug treatments that influence the disease course of SMA. This is an update of a review first published in 2009...
  45. pmc Protein aggregation in amyotrophic lateral sclerosis
    Anna M Blokhuis
    Department of Neuroscience and Pharmacology, Rudolf Magnus Institute of Neuroscience, University Medical Center, Utrecht, The Netherlands
    Acta Neuropathol 125:777-94. 2013
    ..Further insight into protein aggregation will not only deepen our understanding of ALS pathogenesis but also may provide novel avenues for therapeutic intervention...
  46. pmc Genetic analysis of DNA methylation and gene expression levels in whole blood of healthy human subjects
    Kristel R van Eijk
    Department of Medical Genetics, University Medical Center Utrecht, Utrecht 3584, CG, The Netherlands
    BMC Genomics 13:636. 2012
    ..However, recent studies suggest that the relationship between genetic variation, DNA methylation and expression is more complex...
  47. ncbi request reprint Multifocal motor neuropathy is not associated with genetic variation in PTPN22, BANK1, Blk, FCGR2B, CD1A/E, and TAG-1 genes
    Lotte Vlam
    Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands
    J Peripher Nerv Syst 16:175-9. 2011
    ..15) and disease characteristics were not associated with SNP genotypes. Our results suggest that allelic variation in these genes does not play a major role in determining MMN susceptibility...
  48. ncbi request reprint Mutational analysis of TARDBP in Parkinson's disease
    Marka van Blitterswijk
    Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands
    Neurobiol Aging 34:1517.e1-3. 2013
    ..S332S, no missense mutations were present in our cohort. Our findings, therefore, demonstrate that TARDBP mutations do not appear to contribute to the pathogenesis of Parkinson's disease in The Netherlands...
  49. ncbi request reprint Alternative trial design in amyotrophic lateral sclerosis saves time and patients
    Geert Jan Groeneveld
    The Department of Neurology, University Medical Centre Utrecht, Utrecht, The Netherlands
    Amyotroph Lateral Scler 8:266-9. 2007
    ..We found that the sequential analysis offered a gain in time of 38%. We conclude that the sequential trial design may in certain situations be superior to the classical design...
  50. ncbi request reprint Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis
    Michael A van Es
    Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, The Netherlands
    Ann Neurol 70:964-73. 2011
    ..We therefore investigated whether ANG variants could predispose to both ALS and PD...
  51. ncbi request reprint Symptoms of activity-induced weakness in peripheral nervous system disorders
    Dirk C G Straver
    Neuromuscular Disease Group, Department of Neurology and Clinical Neurophysiology, Rudolf Magnus Institute for Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands
    J Peripher Nerv Syst 16:108-12. 2011
    ..In conclusion, activity-induced weakness is frequently reported in MMN and CIDP. It is, however, not specific for these neuropathies as PSMA patients reported it to the same extent...
  52. ncbi request reprint Drug treatment for spinal muscular atrophy type I
    Renske I Wadman
    Department of Neurology, University Medical Center Utrecht, Utrecht, Netherlands
    Cochrane Database Syst Rev 4:CD006281. 2012
    ..There are no known efficacious drug treatments that influence the course of the disease. This is an update of a review first published in 2009...
  53. ncbi request reprint IVIg inhibits classical pathway activity and anti-GM1 IgM-mediated complement deposition in MMN
    Sanne Piepers
    Rudolf Magnus Institute of Neuroscience, Department of Neurology, University Medical Center Utrecht, Utrecht, The Netherlands
    J Neuroimmunol 229:256-62. 2010
    ..The beneficial effects of IVIg in MMN may be explained by reduced antibody-mediated complement deposition in nerves amplified by a systemically attenuated classical pathway...
  54. ncbi request reprint Structural MRI reveals cortical thinning in amyotrophic lateral sclerosis
    Esther Verstraete
    Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Centre Utrecht, Utrecht, The Netherlands
    J Neurol Neurosurg Psychiatry 83:383-8. 2012
    ..MRI was used to study the whole cortical mantle, applying an unbiased surface based approach to identify a marker of upper motor neuron involvement in ALS...
  55. pmc Weighted gene co-expression network analysis of the peripheral blood from Amyotrophic Lateral Sclerosis patients
    Christiaan G J Saris
    Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht 3584 CX, The Netherlands
    BMC Genomics 10:405. 2009
    ..Since access to spinal cord tissue is not possible at disease onset, we investigated changes in gene expression profiles in whole blood of ALS patients...
  56. pmc Detection, imputation, and association analysis of small deletions and null alleles on oligonucleotide arrays
    Lude Franke
    Complex Genetics Section, DBG Department of Medical Genetics, University Medical Centre Utrecht, 3584 CG Utrecht, The Netherlands
    Am J Hum Genet 82:1316-33. 2008
    ..Genes overlapping with these loci more often have paralogs (p = 0.006) and biologically interact with fewer genes than expected (p = 0.004)...
  57. ncbi request reprint Dysfunction of the neuromuscular junction in spinal muscular atrophy types 2 and 3
    Renske I Wadman
    Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands
    Neurology 79:2050-5. 2012
    ..We therefore evaluated neuromuscular junction function in SMA with repetitive nerve stimulation...
  58. ncbi request reprint Increased paternal age and the influence on burden of genomic copy number variation in the general population
    Jacobine E Buizer-Voskamp
    Department of Psychiatry, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, The Netherlands
    Hum Genet 132:443-50. 2013
    ..While it remains possible that local genomic effects may exist for specific phenotypes, this study indicates that global CNV burden and increased father's age may be independent disease risk factors...
  59. ncbi request reprint Activity-dependent conduction block in multifocal motor neuropathy
    Dirk C G Straver
    Neuromuscular Disease Group, Department of Neurology and Clinical Neurophysiology, Rudolf Magnus Institute for Neuroscience, University Medical Centre Utrecht, PO Box 85500, 3508 GA Utrecht, The Netherlands
    Muscle Nerve 43:31-6. 2011
    ..MVC induced no changes in mean area ratios and induced no activity-dependent CB. In segments with CB before MVC, the MVC induced increased duration prolongation. In MMN, MVC induced temporal dispersion but no activity-dependent CB...
  60. pmc Gene-network analysis identifies susceptibility genes related to glycobiology in autism
    Bert van der Zwaag
    Department of Neuroscience and Pharmacology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands
    PLoS ONE 4:e5324. 2009
    ..Our findings suggest that the occurrence of genomic gains and losses of genes associated with glycobiology are important contributors to the development of ASD...
  61. ncbi request reprint Large-scale SOD1 mutation screening provides evidence for genetic heterogeneity in amyotrophic lateral sclerosis
    Michael A van Es
    Department of Neurology, University Medical Center Utrecht, Utrecht, The Netherlands
    J Neurol Neurosurg Psychiatry 81:562-6. 2010
    ....
  62. ncbi request reprint Activity-dependent conduction block in chronic inflammatory demyelinating polyneuropathy
    Dirk C G Straver
    Neuromuscular Disease Group, Department of Neurology and Clinical Neurophysiology, Rudolf Magnus Institute for Neuroscience, University Medical Centre Utrecht, PO Box 85500 3508 GA Utrecht, The Netherlands
    J Neurol Sci 300:33-8. 2011
    ..In segments with demyelinative slowing, MVC induced an increase in CMAP duration prolongation. Thus, in CIDP, muscle activity induces virtually no CB, but it may increase temporal dispersion of nerve action potentials...
  63. ncbi request reprint TDP-43 plasma levels are higher in amyotrophic lateral sclerosis
    Esther Verstraete
    Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Centre Utrecht, Utrecht, The Netherlands
    Amyotroph Lateral Scler 13:446-51. 2012
    ..In conclusion, our data indicate that TDP-43 plasma levels may have potential as a marker for ALS. A genotype-phenotype relationship could not, however, be established in this cohort...
  64. ncbi request reprint Multifocal motor neuropathy: diagnosis, pathogenesis and treatment strategies
    Lotte Vlam
    Rudolf Magnus Institute of Neuroscience, Department of Neurology, University Medical Center Utrecht, PO Box 85500, 3508 GA Utrecht, The Netherlands
    Nat Rev Neurol 8:48-58. 2012
    ..In this Review, we discuss the diagnostic criteria for MMN, and provide an update on the current understanding of MMN pathogenesis. We also describe available treatments and promising new therapeutic strategies...
  65. ncbi 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...
  66. ncbi request reprint Is cold paresis related to axonal depolarization?
    Hessel Franssen
    Department of Neurology, Neuromuscular Disease Group, Rudolf Magnus Institute for Neuroscience, University Medical Center Utrecht, The Netherlands
    J Peripher Nerv Syst 15:227-37. 2010
    ..The induced weakness may be explained not only by this mechanism but also by impaired muscle contraction...
  67. ncbi request reprint A randomized sequential trial of creatine in amyotrophic lateral sclerosis
    G J Groeneveld
    Department of Neurology, University Medical Center Utrecht, The Netherlands
    Ann Neurol 53:437-45. 2003
    ..Creatine intake did not cause important adverse reactions. This placebo-controlled trial did not find evidence of a beneficial effect of creatine monohydrate on survival or disease progression in patients with ALS...
  68. ncbi request reprint Sequential designs for clinical trials in amyotrophic lateral sclerosis
    Geert Jan Groeneveld
    Department of Neurology, University Medical Centre, Heidelberglaan 100, NL 3584 CX Utrecht, The Netherlands
    Amyotroph Lateral Scler Other Motor Neuron Disord 5:202-7. 2004
    ..The sequential trial design is an alternative to the classical trial design, which permits stopping a study as soon as a treatment effect can be significantly demonstrated or denied...
  69. ncbi request reprint Subcutaneous immunoglobulin therapy for multifocal motor neuropathy
    Filip Eftimov
    Department of Neurology, Academic Medical Centre, Amsterdam, The Netherlands
    J Peripher Nerv Syst 14:93-100. 2009
    ..In some, but not all MMN patients in this study, SCIg therapy was feasible and safe and maintained strength as well as IVIg. SCIg may be a viable alternative maintenance therapy in some patients with MMN currently receiving IVIg...
  70. ncbi request reprint Genome-wide association study in premature ovarian failure patients suggests ADAMTS19 as a possible candidate gene
    Erik A H Knauff
    Department of Reproductive Medicine and Gynaecology, University Medical Centre Utrecht, Heidelberglaan 100, 3584 CX Utrecht, The Netherlands
    Hum Reprod 24:2372-8. 2009
    ..Using high-density single nucleotide polymorphism (SNP) arrays, we set out to identify new genetic variants involved in this condition...
  71. ncbi request reprint What we truly know about occupation as a risk factor for ALS: a critical and systematic review
    Nadia A Sutedja
    Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Centre, Utrecht, The Netherlands
    Amyotroph Lateral Scler 10:295-301. 2009
    ..However, well designed studies with standardized assessment of occupation are needed to provide a more definitive answer about exogenous risk factors of ALS...
  72. ncbi request reprint Functional health status of patients with chronic inflammatory neuropathies
    Peter G Erdmann
    Rudolf Magnus Institute of Neuroscience, Department of Neurology and Neurosurgery, University Medical Center Utrecht, 3508 GA Utrecht, The Netherlands
    J Peripher Nerv Syst 10:181-9. 2005
    ..Therefore, to assess a patient with inflammatory neuropathy, it is recommended to assess body function as well as activities and functioning and to select appropriate clinimetric instruments specific for each type of neuropathy...
  73. ncbi request reprint ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study
    Michael A van Es
    Department of Neurology, University Medical Center Utrecht, Utrecht, The Netherlands
    Lancet Neurol 6:869-77. 2007
    ..ALS is thought to be multifactorial, with both environmental and genetic causes. Our aim was to identify genetic variants that predispose for sporadic ALS...
  74. ncbi request reprint Quantification of SMN protein in leucocytes from spinal muscular atrophy patients: effects of treatment with valproic acid
    Sanne Piepers
    Rudolf Magnus Institute of Neuroscience, Department of Neurology, University Medical Centre Utrecht, The Netherlands
    J Neurol Neurosurg Psychiatry 82:850-2. 2011
    ..Increasing SMN protein production by histone deacetylase inhibiting drugs such as valproic acid (VPA) is an experimental treatment strategy for SMA...
  75. ncbi request reprint Disease course and prognostic factors of progressive muscular atrophy
    Jeldican Visser
    Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Arch Neurol 64:522-8. 2007
    ..To investigate the natural history and prognostic factors in patients with nonhereditary, adult-onset progressive muscular atrophy...
  76. pmc Impaired structural motor connectome in amyotrophic lateral sclerosis
    Esther Verstraete
    Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands
    PLoS ONE 6:e24239. 2011
    ..The degenerative process in ALS was found to be widespread, but interlinked and targeted to the motor connectome...
  77. pmc Cold paresis in multifocal motor neuropathy
    Dirk C G Straver
    Neuromuscular Disease Group, Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX, Utrecht, The Netherlands
    J Neurol 258:212-7. 2011
    ..In conclusion, symptoms of cold paresis are common in peripheral nervous system disorders, particularly in MMN. This supports the above-described hypothesis...
  78. ncbi request reprint Disclosure of individual genetic data to research participants: the debate reconsidered
    Annelien L Bredenoord
    University Medical Center Utrecht, Julius Center for Health Sciences and Primary Care, Department of Medical Ethics, Stratenum 6 131, PO Box 85500, 3508 GA Utrecht, The Netherlands
    Trends Genet 27:41-7. 2011
    ....
  79. pmc Associated autoimmune diseases in patients with multifocal motor neuropathy and their family members
    Elisabeth A Cats
    Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Centre Utrecht, Heidelberglaan 100, 3584 CX Utrecht, The Netherlands
    J Neurol 259:1137-41. 2012
    ..The higher frequency of AID in patients with MMN indicates a common autoimmune diathesis...
  80. ncbi request reprint Rehabilitation care for patients with ALS in The Netherlands
    Jan Paul van den Berg
    Rudolph Magnus Institute of Neuroscience, Department of Rehabilitation, University Medical Centre Utrecht, Utrecht, The Netherlands
    Amyotroph Lateral Scler Other Motor Neuron Disord 4:186-90. 2003
    ..Detailed information about the actual care of ALS patients in the Netherlands and about the attitude of consultants in rehabilitation medicine towards the management of this disease was lacking...
  81. ncbi request reprint CGP 3466B has no effect on disease course of (G93A) mSOD1 transgenic mice
    Geert J Groeneveld
    Department of Neurology, Laboratory for Experimental Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Centre Utrecht, Utrecht, The Netherlands
    Amyotroph Lateral Scler Other Motor Neuron Disord 5:220-5. 2004
    ..CGP 3466B, a tricyclic propargylamine structurally related to (-)-deprenyl, was found to inhibit apoptosis in a wide variety of in vitro and in vivo models. We therefore studied the effect of CGP 3466B in mSOD1 mice...
  82. ncbi request reprint Requests for euthanasia: origin of suffering in ALS, heart failure, and cancer patients
    Maud Maessen
    Department of Neurology, University Medical Centre Utrecht, Utrecht, The Netherlands
    J Neurol 257:1192-8. 2010
    ..46] than by ALS patients. ALS patients should be helped in a timely fashion to cope with psychosocial symptoms, e.g., by informing them about the low risk of suffocation in the terminal phase and the possible means of preventing this...
  83. ncbi request reprint No evidence of microbleeds in ALS patients at 7 Tesla MRI
    Esther Verstraete
    Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Centre Utrecht, Utrecht
    Amyotroph Lateral Scler 11:555-7. 2010
    ..We performed T2*-weighed imaging which enables whole-brain in vivo detection of cerebral microbleeds and hemosiderin deposits in humans. No microbleeds were found in patients with ALS...
  84. ncbi request reprint Spastin mutations in sporadic adult-onset upper motor neuron syndromes
    Frans Brugman
    Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, G03 228, PO Box 85500, 3508 GA Utrecht, The Netherlands
    Ann Neurol 58:865-9. 2005
    ..Our study shows that spastin mutations are a frequent cause of apparently sporadic spastic paraparesis but not of primary lateral sclerosis...
  85. ncbi request reprint A large genome scan for rare CNVs in amyotrophic lateral sclerosis
    Hylke M Blauw
    Department of Neurology, Rudolf Magnus Institute of Neuroscience, Genetics, University Medical Centre Utrecht, 3584 CX Utrecht, The Netherlands
    Hum Mol Genet 19:4091-9. 2010
    ..20, P = 2.2 × 10(-5)). Our results highlight DPP6 and NIPA1 as candidates for more in-depth studies. Unlike other complex neurological and psychiatric traits, rare CNVs with high effect size do not play a major role in ALS pathogenesis...
  86. ncbi request reprint Activity-dependent conduction block in multifocal motor neuropathy
    Dirk C G Straver
    Neuromuscular Disease Group, Department of Neurology and Clinical Neurophysiology, Rudolf Magnus Institute for Neuroscience, University Medical Centre Utrecht, P O Box 85500, 3508 GA Utrecht, The Netherlands
    Muscle Nerve 43:31-6. 2011
    ..In segments with CB before MVC, the MVC induced increased duration prolongation. In MMN, MVC induced temporal dispersion but no activity-dependent CB. Muscle Nerve, 2011...
  87. ncbi request reprint The future of motor neuron disease: the challenge is in the genes
    Jan H Veldink
    Department of Neurology, G 03 228, University Medical Center Utrecht, P O Box 85500, 3508 GA Utrecht, The Netherlands
    J Neurol 251:491-500. 2004
    ..These centres can apply specific models of care for people with ALS/MND, but must be designed in a patient-centred format. Ultimately, these models should be assessed according to their outcomes...
  88. ncbi request reprint No benefits from experimental treatment with olfactory ensheathing cells in patients with ALS
    Sanne Piepers
    Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Centre Utrecht, The Netherlands
    Amyotroph Lateral Scler 11:328-30. 2010
    ..Two patients had severe side-effects. Based on our findings in these ALS patients who underwent experimental OEC treatment, we conclude that there are no indications that this treatment is beneficial...
  89. ncbi request reprint Euthanasia and physician-assisted suicide among patients with amyotrophic lateral sclerosis in the Netherlands
    Jan H Veldink
    Department of Neurology, University Medical Center, Utrecht, The Netherlands
    N Engl J Med 346:1638-44. 2002
    ..However, it is not known how many patients, if given the option, would actually decide to end their lives by physician-assisted suicide or euthanasia nor at what stage of the disease they would choose to do so...
  90. ncbi request reprint Anti-GM1 IgG antibodies induce leukocyte effector functions via Fcgamma receptors
    Nina M van Sorge
    Department of Neurology and Immunology, University Medical Centre Utrecht, Utrecht, The Netherlands
    Ann Neurol 53:570-9. 2003
    ..These data document the capacity of anti-GM1 IgG antibodies to activate leukocyte inflammatory functions, and suggest an important role for anti-ganglioside IgG antibodies in the pathogenesis of GBS...
  91. pmc Effects of aerobic exercise therapy and cognitive behavioural therapy on functioning and quality of life in amyotrophic lateral sclerosis: protocol of the FACTS-2-ALS trial
    Annerieke C van Groenestijn
    Rudolf Magnus Institute of Neuroscience, University Medical Centre Utrecht, The Netherlands
    BMC Neurol 11:70. 2011
    ..The primary aim of the FACTS-2-ALS trial is to study the effects of AET and CBT, in addition to usual care, compared to usual care alone, on functioning and QoL in patients with ALS...
  92. ncbi request reprint Family history of neurodegenerative and vascular diseases in ALS: a population-based study
    M H B Huisman
    Department of Neurology, University Medical Center Utrecht, Utrecht, The Netherlands
    Neurology 77:1363-9. 2011
    ....