Vasiliki Zouvelou, Dimitra Tzavella, Thomas Zambelis
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引用次数: 0
Abstract
A 22-year-old female suffering from MuSK-myasthenia gravis presented with fatigable eyelid ptosis, fluctuated bulbar symptoms and bilateral eyelid twichings which were greatly reinforced after tight closure of eyes and contraction of orbicularis oculi muscles. The patient never received acetylcholinesterase inhibitor treatment. Persistent twichings, irrespectively of clinical status, were signs of cholinergic hyperactivity. MuSK antibodies disrupt MuSK-collagen Q interaction with resultant deficient binding of acetylcholinesterase at synaptic cleft and impaired breakdown of acetylcholine. In myasthenia gravis, clinical signs of cholinergic hyperactivity may point to seropositivity of MuSK antibodies with therapeutic implications in clinical practice.
期刊介绍：
Peer-reviewed and published quarterly, Acta Neurologica Belgicapresents original articles in the clinical and basic neurosciences, and also reports the proceedings and the abstracts of the scientific meetings of the different partner societies. The contents include commentaries, editorials, review articles, case reports, neuro-images of interest, book reviews and letters to the editor.
Acta Neurologica Belgica is the official journal of the following national societies:
Belgian Neurological Society
Belgian Society for Neuroscience
Belgian Society of Clinical Neurophysiology
Belgian Pediatric Neurology Society
Belgian Study Group of Multiple Sclerosis
Belgian Stroke Council
Belgian Headache Society
Belgian Study Group of Neuropathology
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