Polet, S. (Sjoukje) (2019) Elucidating Involvement of the Peripheral Nervous System in North-Sea Progressive Myoclonus Epilepsy. thesis, Medicine.
Full text available on request.Abstract
Introduction North Sea Progressive Myoclonus Epilepsy (NSPME) is a rare neurological condition caused by a homozygous missense founder mutation in the Golgi SNAP receptor complex 2 (GOSR2). It is characterized by the onset of ataxia at a young age followed by myoclonus and epilepsy thereafter. The peripheral nervous system appears to be involved, however previous findings are not consistent. In the present study we aim to investigate two relatively unexplored fields in North-Sea PME: 1. Involvement of the peripheral nervous system and 2. the impact of North-Sea PME on daily functioning and wellbeing of patients, expressed as the Health-Related Quality of Life Methods We included 12 patients (age range 5-45 years) with North-Sea PME and collected data on clinical characteristics and diagnostics, including neurophysiological data (nerve conduction studies, needle electromyography and muscle echo). To inquire into Health-Related Quality of Life (HRQoL) and fatigue, we sent the adult patients the SF-36 and FSS questionnaire. Results The course of symptoms included ataxia around the age of 3,8 (range 2-7), followed by myoclonus around the age of 5,5 years (range;3-7) and seizures in the majority of patients (mean age onset 7,5 years (range 3-11). Five patients reported episodes of pain in their feet/legs in the past, this is a finding which has not been reported previously in patients with North-Sea PME. The peripheral nervous system appeared to be involved in the majority of patients with available nerve conduction study and needle electromyography data. (n=7 out of 8 patients tested). Involvement varied from an absent or difficult to measure H-reflex (n=7) to anterior horn cell involvement/motor neuronopathy (n=4) and sensory neuronopathy/polyneuropathy (n=4). On Health-Related Quality of Life, especially the domains of physical functioning and social functioning appeared to be impaired in adults with North-Sea PME. In addition, adult patients with North-Sea PME reported to experience a severe degree of fatigue. Discussion Two relatively unexplored fields in North Sea-PME are discussed here. It appears that the peripheral nervous system is involved to various degrees in the majority of patients with North-Sea PME. This is the first study reporting that the H-reflex is absent or difficult to measure in all patients with North-Sea PME tested for the H-reflex. However, the effect of peripheral nervous system involvement on the clinical features of patients are still unclear. The Health-Related Quality of Life and degree of fatigue warrants further attention in adult- as well as pediatric patients with North-Sea PME.
| Item Type: | Thesis (Thesis) |
|---|---|
| Supervisor name: | Koning, Dr. TJ de MD PhD | faculty supervisor and Koning-Tijssen, Prof. Dr. MAJ de MD PhD | second supervisor and Department of neurology and University Medical Center of Groningen |
| Faculty: | Medical Sciences |
| Date Deposited: | 25 Jun 2020 10:47 |
| Last Modified: | 25 Jun 2020 10:47 |
| URI: | https://umcg.studenttheses.ub.rug.nl/id/eprint/820 |
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