Jonkman, H.R. (2019) Cortical Inhibition in NF1 : A study comparing (GABA)A and (GABA)B mediated cortical inhibition in Neurofibromatosis type 1 patients to a healthy control group, using a combination of Transcranial Magnetic Stimulation and Electromyography. thesis, Medicine.
Full text available on request.Abstract
Introduction Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic condition associated with a wide array of psychosomatic symptoms and a number of neuropsychiatric comorbidities. Cognitive deficiencies such as learning and behavioral problems are a common feature and can lead to substantial lifetime morbidity. Previous studies done mainly in mice have suggested that cognitive symptoms are caused by an excess of GABA, due to Ras/MAPK pathway overactivity, which leads to increased levels of cortical inhibition. This translational effort assesses cortical inhibition in NF1 patients with hopes to reaffirm or reappraise the existing knowledge base. Methods Using a combination of Transcranial Magnetic Stimulation (TMS) and Electromyography (EMG), measures of (GABA)A and (GABA)B mediated cortical inhibition were obtained for a group of 15 NF1 patients and 15 unaffected controls matched for age and gender. These were subsequently subjected to analysis and statistical comparison. Results NF1 patients were found to exhibit a significantly lower level of both (GABA)A and (GABA)B mediated cortical inhibition. Motor-evoked potential (MEP) amplitudes were significantly lower in the NF1 group for all of the outcome measurements in spite of comparable baseline measurements. Discussion & Conclusion These results suggest a global reduction in cortical excitability in NF1 patients and seem to indicate that the pathways underlying cognitive disabilities in NF1 differ from those previously suggested in animal literature. However, current evidence is sparse and conflicting in nature, and both NF1 and TMS as a measurement tool exhibit a high degree of variability. Additional studies are needed to reach scientific consensus
| Item Type: | Thesis (Thesis) |
|---|---|
| Supervisor name: | Rijksuniversiteit Groningen and Belkum, S.M. van |
| Faculty: | Medical Sciences |
| Date Deposited: | 25 Jun 2020 10:57 |
| Last Modified: | 25 Jun 2020 10:57 |
| URI: | https://umcg.studenttheses.ub.rug.nl/id/eprint/1802 |
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