Artikel
Neuropathy in neurofibromatosis types 1, 2 and 3 – a study protocol to address a neglected feature
Neuropathie bei Neurofibromatose Typ I, II und III – ein Studienprotokoll zur Behandlung eines vernachlässigten Symptoms
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Autoren
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Cordula Matthies
- Universitätsklinikum Julius Maximilians Universität Würzburg, Neurochirurgische Klinik und Poliklinik, Würzburg, Deutschland
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Eva Rampeltshammer
- Universitätsklinikum Julius Maximilians Universität Würzburg, Neurochirurgische Klinik und Poliklinik, Würzburg, Deutschland
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Judith Weiland
- Universitätsklinikum Julius Maximilians Universität Würzburg, Neurochirurgische Klinik und Poliklinik, Würzburg, Deutschland
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Maria Breun
- Universitätsklinikum Julius Maximilians Universität Würzburg, Neurochirurgische Klinik und Poliklinik, Würzburg, Deutschland
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Ralf-Ingo Ernestus
- Universitätsklinikum Julius Maximilians Universität Würzburg, Neurochirurgische Klinik und Poliklinik, Würzburg, Deutschland
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Mirko Pham
- Universitätsklinikum Julius Maximilians Universität Würzburg, Institut für Diagnostische und Interventionelle Neuroradiologie, Würzburg, Deutschland
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Nurcan Üçeyler
- Universitätsklinikum Julius Maximilians Universität Würzburg, Neurologische Klinik und Poliklinik, Würzburg, Deutschland
| Veröffentlicht: | 4. Juni 2021 |
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Gliederung
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Objective: Neurofibromatosis (NF) is associated with multiple nerve tumors mostly presenting at young or even adolescent age. Neuropathy is a further frequent symptom in NF and may be related to schwannoma / neurofibroma formation or may occur independently. This study is designed to identify factors triggering the development and resolution of neuropathy and pain, and is being supported by a Grant by the German Research Council (DFG).
Methods: A cohort of 200 patients with NF types 1, 2, or 3 will be included into the study for baseline and longitudinal characterization of neuropathy and pain by validated questionnaires and standardized worksheets. Further, in-depth clinical phenotyping of NF subtypes will be combined with extensive electrophysiological investigation of the large and small caliber nerve fibers, in-vitro testing of patient-derived individual sensory neurons, and differences in Schwann cell activities. Besides standard MRI investigations for all participants, selected patients will additionally undergo dorsal root ganglion perfusion and permeability analysis.
Results: To date, preliminary results are available. Most severe disease manifestation with high tumor load and neuropathy is present in about 25% of NF patients. NF-associated neuropathy occurs and develops in a disease-specific manner across the spectrum of NF disorders with a prevalence of neuropathic pain in subtypes NF1 and NF3, while tumor-independent neuropathic deficits are more frequent in NF2.
Conclusion: Neuropathy and pain in NF1, NF2, and NF3 are of great importance with regard to diagnostic measures, decision taking for therapy, and their impact on quality of life. A standardized test battery may be developed along with this study and serve for better identification of patients at risk.
