Journal of neurology
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Journal of neurology · Nov 2018
Randomized Controlled TrialCorrelation of phenotype with genotype and protein structure in RYR1-related disorders.
Variants in the skeletal muscle ryanodine receptor 1 gene (RYR1) result in a spectrum of RYR1-related disorders. Presentation during infancy is typical and ranges from delayed motor milestones and proximal muscle weakness to severe respiratory impairment and ophthalmoplegia. We aimed to elucidate correlations between genotype, protein structure and clinical phenotype in this rare disease population. ⋯ Motor deficits were most apparent in the MFM-32 standing and transfers dimension, [median (IQR) 85.4 (18.8)% of maximum score] and recessive cases exhibited significantly greater overall motor function impairment compared to dominant/de novo cases [79.7 (18.8)% vs. 87.5 (17.7)% of maximum score, p = 0.03]. Variant mapping revealed patterns of clinical severity across RyR1 domains, including a structural plane of interest within the RyR1 cytosolic shell, in which 84% of variants affected the bridging solenoid. We have corroborated genotype-phenotype correlations and identified RyR1 regions that may be especially sensitive to structural modification.
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Journal of neurology · Aug 2018
Randomized Controlled TrialFatigue, not self-rated motor symptom severity, affects quality of life in functional motor disorders.
While fatigue is found to be an impairing symptom in functional motor disorders (FMD) in clinical practice, scientific evidence is lacking. We investigated fatigue severity and subtypes in FMD compared to organic neurological disease. Furthermore, the role of fatigue within FMD and its impact on quality of life and self-rated health were investigated. ⋯ Fatigue was found to be a prevalent problem in FMD, more so than in organic neurological disease. It significantly affected quality of life and self-rated health, while other factors such as motor symptom severity did not. Fatigue should be taken into account in clinical practice and treatment trials.
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Journal of neurology · Jun 2018
Randomized Controlled Trial Comparative StudyPersonalized botulinum toxin type A therapy for cervical dystonia based on kinematic guidance.
Botulinum toxin type A (BoNT-A) injections is the accepted first-line therapy for cervical dystonia (CD), however, numerous patients discontinue treatment early due to perceived sub-optimal relief. To improve BoNT-A therapy for CD, proper assessment of neck motion and selection of relevant muscles and dosing must be met. Kinematic technology may improve treatment outcomes by guiding physicians to better tailor muscle selection and BoNT-A dosing for CD therapy. ⋯ Clinical judgement guided by kinematic analysis of CD biomechanics can result in faster optimal muscle selections and minimize use of higher BoNT-A doses as compared to visual determination, thereby achieving comparable and potentially better treatment outcomes.
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Journal of neurology · Feb 2018
Randomized Controlled Trial Clinical TrialA randomized double-blind, placebo-controlled, cross-over trial (Vestparoxy) of the treatment of vestibular paroxysmia with oxcarbazepine.
Vestibular paroxysmia (VP) is characterized by short, often oligosymptomatic attacks of vertigo which occur spontaneously or are sometimes provoked by turning the head. Despite the description of the disease almost 40 years ago (first termed "disabling positional vertigo"), no controlled treatment trial has been published to date. The Vestparoxy trial was designed as a randomized, placebo-controlled, double-blind cross-over trial to examine the therapeutic effect of oxcarbazepine (OXA) in patients with definite or probable VP. ⋯ The Vestparoxy trial showed a significant reduction of VP attacks under OXA compared to placebo treatment, confirming the known and revealing no new side effects.
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Journal of neurology · Dec 2017
Randomized Controlled TrialTreatment outcome in patients with clinically defined carpal tunnel syndrome but normal electrodiagnostic test results: a randomized controlled trial.
Little is known about treatment effect of carpal tunnel release in patients with clinically defined carpal tunnel syndrome (CTS), but normal electrodiagnostic test results (EDX). The aim of this study was to determine whether this category of patients will benefit from surgical treatment. 57 patients with clinically defined CTS and normal EDX were randomized for surgical treatment (n = 39) or non-surgical treatment (n = 18). A six-point scale for perceived improvement as well as the Boston Carpal Tunnel Questionnaire was completed at baseline and at follow-up after 6 months. ⋯ Furthermore, both Functional Status Score and Symptom Severity Score improved significantly more in the surgically treated group (p = 0.036 and p < 0.001, respectively). This study demonstrates that most patients with clinically defined CTS and normal EDX results will benefit from carpal tunnel release. Therefore, this group of CTS patients must not a priori be refrained from surgery.