Catharina G Faber

Summary

Country: The Netherlands

Publications

  1. doi Gain of function Naν1.7 mutations in idiopathic small fiber neuropathy
    Catharina G Faber
    Department of Neurology, University Medical Center Maastricht, Maastricht, The Netherlands
    Ann Neurol 71:26-39. 2012
  2. pmc Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study
    Nadine A M E van der Beek
    Department of Neurology, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, s Gravendijkwal 230, 3015 CE, Rotterdam, The Netherlands
    Orphanet J Rare Dis 7:88. 2012
  3. pmc Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study
    Juna M de Vries
    Department of Neurology and Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands
    Orphanet J Rare Dis 7:73. 2012
  4. pmc NaV1.7: stress-induced changes in immunoreactivity within magnocellular neurosecretory neurons of the supraoptic nucleus
    Joel A Black
    Department of Neurology, Yale University School of Medicine, New Haven, CT 06510, USA
    Mol Pain 9:39. 2013
  5. doi Entrapment in anti myelin-associated glycoprotein neuropathy
    Catharina G Faber
    Dept of Neurology, University Hospital Maastricht, 5800, 6202 AZ, Maastricht, The Netherlands
    J Neurol 256:620-4. 2009
  6. pmc AChR deficiency due to epsilon-subunit mutations: two common mutations in the Netherlands
    Catharina G Faber
    Department of Neurology, Maastricht University Medical Centre, PO Box 5800, 6202 AZ, Maastricht, The Netherlands
    J Neurol 256:1719-23. 2009
  7. doi Small fibers, large impact: quality of life in small-fiber neuropathy
    Mayienne Bakkers
    Department of Neurology, Maastricht University Medical Centre, P O Box 5800, 6202 AZ, Maastricht, The Netherlands
    Muscle Nerve 49:329-36. 2014
  8. doi Grip strength comparison in immune-mediated neuropathies: Vigorimeter vs. Jamar
    Thomas H P Draak
    Department of Neurology, Maastricht University Medical Center, Maastricht, The Netherlands
    J Peripher Nerv Syst 20:269-76. 2015
  9. doi Impairment measures versus inflammatory RODS in GBS and CIDP: a responsiveness comparison
    Els K Vanhoutte
    Department of Clinical Genetics, University Medical Centre Maastricht, Maastricht, The Netherlands
    J Peripher Nerv Syst 20:289-95. 2015
  10. pmc Gain-of-function Nav1.8 mutations in painful neuropathy
    Catharina G Faber
    Department of Neurology, University Medical Centre Maastricht, 6202 AZ Maastricht, The Netherlands
    Proc Natl Acad Sci U S A 109:19444-9. 2012

Collaborators

Detail Information

Publications45

  1. doi Gain of function Naν1.7 mutations in idiopathic small fiber neuropathy
    Catharina G Faber
    Department of Neurology, University Medical Center Maastricht, Maastricht, The Netherlands
    Ann Neurol 71:26-39. 2012
    ..7, which is preferentially expressed in small diameter peripheral axons...
  2. pmc Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study
    Nadine A M E van der Beek
    Department of Neurology, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, s Gravendijkwal 230, 3015 CE, Rotterdam, The Netherlands
    Orphanet J Rare Dis 7:88. 2012
    ..Furthermore, we defined the natural disease course and identified prognostic factors for disease progression...
  3. pmc Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study
    Juna M de Vries
    Department of Neurology and Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands
    Orphanet J Rare Dis 7:73. 2012
    ..We investigated whether it alters the course of disease, and also identified potential prognostic factors...
  4. pmc NaV1.7: stress-induced changes in immunoreactivity within magnocellular neurosecretory neurons of the supraoptic nucleus
    Joel A Black
    Department of Neurology, Yale University School of Medicine, New Haven, CT 06510, USA
    Mol Pain 9:39. 2013
    ..The two sodium channels previously studied within the rat hypothalamic supraoptic nucleus, NaV1.2 and NaV1.6, display up-regulated expression in response to osmotic stress...
  5. doi Entrapment in anti myelin-associated glycoprotein neuropathy
    Catharina G Faber
    Dept of Neurology, University Hospital Maastricht, 5800, 6202 AZ, Maastricht, The Netherlands
    J Neurol 256:620-4. 2009
    ..In conclusion, increased sensitivity for entrapment may occur in anti-MAG neuropathy and contribute to part of the nerve damage...
  6. pmc AChR deficiency due to epsilon-subunit mutations: two common mutations in the Netherlands
    Catharina G Faber
    Department of Neurology, Maastricht University Medical Centre, PO Box 5800, 6202 AZ, Maastricht, The Netherlands
    J Neurol 256:1719-23. 2009
    ....
  7. doi Small fibers, large impact: quality of life in small-fiber neuropathy
    Mayienne Bakkers
    Department of Neurology, Maastricht University Medical Centre, P O Box 5800, 6202 AZ, Maastricht, The Netherlands
    Muscle Nerve 49:329-36. 2014
    ..The impact of small-fiber neuropathy (SFN) on patients' quality of life (QOL) has not been studied extensively. Our aim was to determine the impact of SFN on QOL and examine possible determinants...
  8. doi Grip strength comparison in immune-mediated neuropathies: Vigorimeter vs. Jamar
    Thomas H P Draak
    Department of Neurology, Maastricht University Medical Center, Maastricht, The Netherlands
    J Peripher Nerv Syst 20:269-76. 2015
    ..However, based on patients' preference, the Vigorimeter is recommended in future studies in immune-mediated neuropathies. ..
  9. doi Impairment measures versus inflammatory RODS in GBS and CIDP: a responsiveness comparison
    Els K Vanhoutte
    Department of Clinical Genetics, University Medical Centre Maastricht, Maastricht, The Netherlands
    J Peripher Nerv Syst 20:289-95. 2015
    ..The I-RODS showed greater responsiveness compared with the MRC and INCAT-sensory scales, and its use is therefore recommended in future trials in GBS and CIDP. ..
  10. pmc Gain-of-function Nav1.8 mutations in painful neuropathy
    Catharina G Faber
    Department of Neurology, University Medical Centre Maastricht, 6202 AZ Maastricht, The Netherlands
    Proc Natl Acad Sci U S A 109:19444-9. 2012
    ..8 mutations enhance the channel's response to depolarization and produce hyperexcitability in DRG neurons. These observations suggest that mutations of Na(v)1.8 contribute to painful peripheral neuropathy...
  11. doi Does ability to walk reflect general functionality in inflammatory neuropathies?
    Thomas H P Draak
    Department of Neurology, University Medical Centre Maastricht, Maastricht, The Netherlands
    J Peripher Nerv Syst 21:74-81. 2016
    ..walking ability) does not reflect the full scope of daily/social functional deficits perceived by patients. The ability to walk shows a patient is doing better, but not necessarily doing well. The I-RODS(©) bypasses these limitations. ..
  12. doi Outcome measures in MMN revisited: further improvement needed
    Mariëlle H J Pruppers
    Department of Neurology, Maastricht University Medical Center, Maastricht, The Netherlands
    J Peripher Nerv Syst 20:306-18. 2015
    ..Despite the efforts taken to standardize outcome assessment, further clinimetric responsiveness studies are needed in MMN. ..
  13. doi Peripheral neuropathy in myotonic dystrophy type 1
    Mieke C E Hermans
    Department of Neurology, Maastricht University Medical Centre, Maastricht, The Netherlands
    J Peripher Nerv Syst 16:24-9. 2011
    ..In conclusion, peripheral nerve involvement may be one of the multisystemic manifestations of DM1, but is usually subclinical. Other causes should be excluded when sensory symptoms or signs are severe...
  14. doi A trial based economic evaluation comparing spinal cord stimulation with best medical treatment in painful diabetic peripheral neuropathy
    Rachel Slangen
    Department of Anesthesiology and Pain Medicine, Maastricht University Medical Centre, Maastricht, The Netherlands Electronic address
    J Pain . 2016
    ..Cost-effectiveness results were sensitive to baseline cost imbalances between the groups and the depreciation period of the SCS material...
  15. doi Rasch-built Overall Disability Scale for Multifocal motor neuropathy (MMN-RODS(©) )
    Els K Vanhoutte
    Department of Neurology, University Medical Centre Maastricht, Maastricht, The Netherlands
    J Peripher Nerv Syst 20:296-305. 2015
    ..However, future clinimetric studies are needed to improve the MMN-RODS(©) 's responsiveness by longer observations and/or more rigorous treatment regimens. ..
  16. doi Revised normative values for grip strength with the Jamar dynamometer
    Martine J H Peters
    Department of Neurology, Maastricht University Medical Centre, Maastricht, The Netherlands
    J Peripher Nerv Syst 16:47-50. 2011
    ..Hand dominance had no influence. Other personal factors only minimally influenced final values. This study provides revised normative GS values for the Jamar dynamometer...
  17. doi Temperature threshold testing: a systematic review
    Mayienne Bakkers
    Department of Neurology Maastricht University Medical Center, Maastricht, The Netherlands
    J Peripher Nerv Syst 18:7-18. 2013
    ..Consensus is needed to standardize the use of TTT as a diagnostic and follow-up tool in patients...
  18. doi Fatigue and daytime sleepiness scale in myotonic dystrophy type 1
    Mieke C E Hermans
    Department of Neurology, Maastricht University Medical Centre P O Box 5800, 6202 AZ, Maastricht, The Netherlands
    Muscle Nerve 47:89-95. 2013
    ..Fatigue and excessive daytime sleepiness are frequent complaints in myotonic dystrophy type 1 (DM1) that often overlap. We aimed to construct a combined fatigue and daytime sleepiness rating scale for DM1 using the Rasch measurement model...
  19. doi Optimizing temperature threshold testing in small-fiber neuropathy
    Mayienne Bakkers
    Department of Neurology, Maastricht University Medical Center, P O Box 5800, 6202 AZ, Maastricht, The Netherlands
    Muscle Nerve 51:870-6. 2015
    ..We examined optimization of a temperature threshold testing (TTT) protocol for patients with suspected small-fiber neuropathy (SFN) to lessen the burden for both patients and technicians, without sacrificing accuracy...
  20. pmc Structural and functional cardiac changes in myotonic dystrophy type 1: a cardiovascular magnetic resonance study
    Mieke C E Hermans
    Department of Neurology, Maastricht University Medical Centre, PO Box 5800, Maastricht, AZ, 6202, The Netherlands
    J Cardiovasc Magn Reson 14:48. 2012
    ..Considering the importance of cardiomyopathy as a predictor of prognosis, we aimed to systematically evaluate and describe structural and functional cardiac alterations in patients with MD1...
  21. doi Small-fibre neuropathies--advances in diagnosis, pathophysiology and management
    Janneke G Hoeijmakers
    Department of Neurology, University Medical Center Maastricht, PO Box 5800, 6202 AZ Maastricht, The Netherlands
    Nat Rev Neurol 8:369-79. 2012
    ..In this Review, we discuss recent advances in the diagnosis and pathophysiology of SFN, highlighting how improved understanding of these aspects of the disorder will contribute to better patient management...
  22. pmc Intravenous immunoglobulin therapy for small fiber neuropathy: study protocol for a randomized controlled trial
    Bianca T A de Greef
    Department of Neurology, School of Mental Health and Neuroscience, Maastricht University Medical Center, P O Box 5800, 6202 AZ, Maastricht, The Netherlands
    Trials 17:330. 2016
    ..Therefore, immunological mechanisms conceivably may play a role in small fiber neuropathy. To date, no randomized controlled study with intravenous immunoglobulin in patients with small fiber neuropathy has been performed...
  23. doi The epidemiology of neuromuscular disorders: Age at onset and gender in the Netherlands
    Johanna C W Deenen
    Department of Neurology, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Neuromuscul Disord 26:447-52. 2016
    ..Inclusion body myositis showed the highest median age at diagnosis of 70 years. These data may be helpful in the diagnostic process in clinical practice and trial readiness. ..
  24. pmc Efficacy, safety, and tolerability of lacosamide in patients with gain-of-function Nav1.7 mutation-related small fiber neuropathy: study protocol of a randomized controlled trial-the LENSS study
    Bianca T A de Greef
    Department of Neurology, School of Mental Health and Neuroscience, Maastricht University Medical Center, P Debijelaan 25, P O Box 5800, 6202, AZ, Maastricht, The Netherlands
    Trials 17:306. 2016
    ..3, Nav1.7, and Nav1.8, and stabilizes channels in the slow-inactivation state. Since multiple Nav1.7 mutations in small fiber neuropathy showed impaired slow-inactivation, lacosamide might be effective...
  25. pmc Neuropathic Pain due to Small Fiber Neuropathy in Aging: Current Management and Future Prospects
    Brigitte A Brouwer
    Department of Anesthesiology and Pain Medicine, Maastricht University Medical Center, 6202 AZ, Maastricht, The Netherlands
    Drugs Aging 32:611-21. 2015
    ..In this review, we highlight relevant pathophysiological aspects and discuss currently used therapeutic strategies for neuropathic pain. Possible pitfalls in neuropathic pain treatment in the elderly will be underlined...
  26. doi Rasch-ionale for neurologists
    Els K Vanhoutte
    Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands
    J Peripher Nerv Syst 20:260-8. 2015
    ..We argue that Rasch-built outcome measures should be used for future studies in neuromuscular disorders and their method of construction could be easily extrapolated to other neurological illnesses. ..
  27. pmc No Fabry Disease in Patients Presenting with Isolated Small Fiber Neuropathy
    Bianca T A de Greef
    Department of Neurology, School of Mental Health and Neuroscience, Maastricht University Medical Center, Maastricht, The Netherlands
    PLoS ONE 11:e0148316. 2016
    ..Our aim is to determine the presence of Fabry disease in patients with small fiber neuropathy...
  28. doi Improving assessment in small fiber neuropathy
    Brigitte A Brouwer
    Department of Anesthesiology and Pain Management, Maastricht University Medical Center, PO Box 5800, 6202 AZ, Maastricht, The Netherlands
    J Peripher Nerv Syst 20:333-40. 2015
    ..The 13-item SFN-SIQ© was transformed through Rasch to an interval measure. The use of these scales is recommended in future clinical interventional trials involving patients with SFN. ..
  29. doi Channelopathies, painful neuropathy, and diabetes: which way does the causal arrow point?
    Janneke G J Hoeijmakers
    Department of Neurology, Maastricht University Medical Center, Maastricht, 6202 AZ, The Netherlands
    Trends Mol Med 20:544-50. 2014
    ..We suggest that mutations of sodium channel NaV1.7, which is present in both cell types, may increase susceptibility for development of diabetes via β cell injury and produce painful neuropathy via a distinct effect on DRG neurons. ..
  30. doi Painful neuropathies: the emerging role of sodium channelopathies
    Brigitte A Brouwer
    Department of Anesthesiology and Pain Management, Maastricht University Medical Center, Maastricht, The Netherlands
    J Peripher Nerv Syst 19:53-65. 2014
    ..This review will focus on the emerging role of sodium channelopathies in painful peripheral neuropathies, which could serve as a basis for novel therapeutic strategies. ..
  31. doi Spinal cord stimulation and pain relief in painful diabetic peripheral neuropathy: a prospective two-center randomized controlled trial
    Rachel Slangen
    Department of Anesthesiology and Pain Medicine, Maastricht University Medical Centre, Maastricht, The Netherlands
    Diabetes Care 37:3016-24. 2014
    ..Small observational studies suggested that spinal cord stimulation (SCS) may have positive effects...
  32. ncbi [Small fibre neuropathy: knowledge is power]
    Jannkek G J Hoeijmakers
    Maastricht Universitair Medisch Centrum, Maastricht, The Netherlands
    Ned Tijdschr Geneeskd 156:A4224. 2012
    ..Treatment of small fibre neuropathy consists of symptomatic pain relief and, if possible, treatment of the underlying cause of the condition...
  33. pmc Reconstructing the Rasch-Built Myotonic Dystrophy Type 1 Activity and Participation Scale
    Mieke C E Hermans
    Department of Neurology, Maastricht University Medical Center, Maastricht, The Netherlands
    PLoS ONE 10:e0139944. 2015
    ....
  34. doi Outcome measures in peripheral neuropathies: requirements through statements
    Ingemar S J Merkies
    Department of Neurology, Spaarne Hospital, Hoofddorp, The Netherlands
    Curr Opin Neurol 25:556-63. 2012
    ..The aim of this review is to inform and educate clinicians through statements about the most important clinimetric requirements for outcome measures in peripheral neuropathies...
  35. doi Rasch-built myotonic dystrophy type 1 activity and participation scale (DM1-Activ)
    Mieke C E Hermans
    Department of Neurology, Maastricht University Medical Centre, P O Box 5800, 6202 AZ, Maastricht, The Netherlands
    Neuromuscul Disord 20:310-8. 2010
    ..DM1-Activ is a practical, reliable and valid outcome measure that fulfils all clinimetric requirements. Further evaluation of this scale is needed to provide a nomogram for clinical use...
  36. ncbi Small Fiber Neuropathy in Children: Two Case Reports Illustrating the Importance of Recognition
    Janneke G J Hoeijmakers
    Department of Neurology, Maastricht University Medical Center, Maastricht, Netherlands
    Pediatrics 138:. 2016
    ..Additional information about the course of SFN in children may result in better treatment options...
  37. doi Comparing the NIS vs. MRC and INCAT sensory scale through Rasch analyses
    Thomas H P Draak
    Department of Neurology, Maastricht University Medical Center, Maastricht, The Netherlands
    J Peripher Nerv Syst 20:277-88. 2015
    ..Responsiveness was equal for the RT-motor scales, but higher in GBS compared to CIDP; responsiveness was poor in patients with MGUSP, suggesting a longer duration of follow-up in the latter group of patients. ..
  38. doi Advances in diagnostics and outcome measures in peripheral neuropathies
    Ingemar S J Merkies
    Department of Neurology, Spaarne Hospital, Hoofddorp, The Netherlands Department of Neurology, Maastricht University Medical Center, Maastricht, The Netherlands
    Neurosci Lett 596:3-13. 2015
    ..Recent developments in defining the optimal set of outcome measures in inflammatory neuropathies may serve as an example for other conditions. Diagnostic and outcome measure advances in peripheral neuropathies will be discussed. ..
  39. doi Fatigue in immune-mediated neuropathies
    Ingemar S J Merkies
    Department of Neurology, Spaarne Hospital, Hoofddorp, The Netherlands
    Neuromuscul Disord 22:S203-7. 2012
    ..Aspects like the degree of known fatigue in these disorders, its impact on daily functioning and quality of life, the suggested underlying mechanisms, and possible therapeutic interventions for fatigue will be addressed in this review...
  40. doi Small fibre neuropathy
    Giuseppe Lauria
    Neuromuscular Diseases Unit, IRCCS Foundation, Carlo Besta Neurological Institute, Milan, Italy
    Curr Opin Neurol 25:542-9. 2012
    ..This review summarizes the most recent advances in classification, diagnostic assessment, and treatment of small fibre neuropathy (SFN)...
  41. doi Improving fatigue assessment in immune-mediated neuropathies: the modified Rasch-built fatigue severity scale
    Sonja I van Nes
    Department of Neurology, Erasmus Medical Centre Rotterdam, Rotterdam, The Netherlands
    J Peripher Nerv Syst 14:268-78. 2009
    ..In conclusion, a 7-item linearly weighted Rasch-built modified FSS is presented for more proper assessment of fatigue in future studies in patients with immune-mediated neuropathies...
  42. ncbi [Statistical significance or clinical relevance?]
    Els K Vanhoutte
    Maastricht Universitair Medisch Centrum, afd Neurologie, Maastricht, The Netherlands
    Ned Tijdschr Geneeskd 154:A2516. 2010
    ..This was demonstrated using various MCID cut-off values...
  43. doi The Val30Met familial amyloid polyneuropathy specific Rasch-built overall disability scale (FAP-RODS(©) )
    Mariëlle H J Pruppers
    Department of Neurology, Maastricht University Medical Center, Maastricht, The Netherlands
    J Peripher Nerv Syst 20:319-27. 2015
    ..Its expansion to other forms of FAP should also be focus of future clinical studies. ..
  44. doi Electrical spinal cord stimulation in painful diabetic polyneuropathy, a systematic review on treatment efficacy and safety
    Wouter A Pluijms
    Department of Anaesthesiology, Maastricht University Medical Centre, Maastricht, The Netherlands
    Eur J Pain 15:783-8. 2011
    ..Therefore other treatment modalities should be considered, including spinal cord stimulation. We performed a systematic review to evaluate treatment efficacy and safety of spinal cord stimulation in painful diabetic polyneuropathy...
  45. doi Outcome measures in immune-mediated neuropathies: the need to standardize their use and to understand the clinimetric essentials
    Sonja I van Nes
    Department of Neurology, Erasmus Medical Centre, Rotterdam Department of Neurology, Maastricht University Medical Centre, Maastricht, The Netherlands
    J Peripher Nerv Syst 13:136-47. 2008
    ....