Long-Term Effect of Sodium Oxybate (Xyrem) in Spasmodic Dysphonia with Vocal Tremor

Symptoms of spasmodic dysphonia (SD) are usually managed successfully with botulinum toxin injections. Vocal tremor (VT), which accompanies SD, has a poor response to this treatment. Case Report We report a case of a female with SD and VT who became symptom-free for 10 months after the intake of a single dose of sodium oxybate (Xyrem). The long-term treatment effect correlated with attenuated brain activity in the key regions of dystonic brain network. Discussion Our case demonstrates that the novel treatment of sodium oxybate may hold promise for SD patients, especially those who have associated VT

Reply to: Hemichorea Associated with CASPR2 Antibody

This letter was written in reply to this letter to the editor: Vynogradova I, Savitski V, Heckmann JG. Hemichorea associated with CASPR2 antibody. Tremor Other Hyperkinet Mov. 2014; 4. doi: 10.7916/D8VM49C5 The above letter to the editor was written in response to this article: Ramdhani RA, Frucht SJ. Isolated Chorea Associated with LGI1 Antibody. Tremor Other Hyperkinet Mov. 2014; 4. doi: 10.7916/D8MG7MF

Increasing Evidence for the Use of Sodium Oxybate in Multi-Drug- Resistant Lance–Adams Syndrome

Background: Treatment of posthypoxic myoclonus (PHM) can be a challenge in patients not responsive to first-line medications. PMH is a rare condition that has a dramatic impact on patients’ quality of life. Refractory cases are not uncommon. Case Report: We report a patient with PHM non-responsive to conventional treatments who showed a dramatic improvement with sodium oxybate (SBX). Cases of PHM treated with SBX reported in the literature were reviewed. Discussion: Resting and stimulus-induced myoclonus respond robustly to SBX, with significant improvement in patients’ quality of life. SBX may be considered in patients with PHM resistant to first-line medications

Medical treatment of dystonia

Abstract Therapeutic strategies in dystonia have evolved considerably in the past few decades. Three major treatment modalities include oral medications, botulinum toxin injections and surgical therapies, particularly deep brain stimulation. Although there has been a tremendous interest in the later two modalities, there are relatively few recent reviews of oral treatment. We review the medical treatment of dystonia, focusing on three major neurotransmitter systems: cholinergic, GABAergic and dopaminergic. We also provide a practical guide to medication selection, therapeutic strategy and unmet needs

Progressive Supranuclear Palsy-like Syndrome After Aortic Aneurysm Repair: A Case Series

The syndrome of progressive supranuclear palsy‐like syndrome is a rare complication of ascending aortic aneurysm repair. We report two patients with videos and present a table of prior reported cases. To our knowledge there is no previously published video of this syndrome. The suspected mechanism is brainstem injury though neuroimaging is often negative for an associated infarct. We hope our report will increase recognition of this syndrome after aortic surgery, especially in patients with visual complaints

Intermediate Phenotypes of ATP1A3 Mutations: Phenotype–Genotype Correlations

Background: ATP1A3-related disorders include rapid-onset dystonia–parkinsonism (RDP or DYT12), alternating hemiplegia of childhood (AHC), and CAPOS syndrome (Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, and Sensorineural hearing loss). Case Report: We report two cases with intermediate forms between RDP and AHC. Patient 1 initially presented with the AHC phenotype, but the RDP phenotype emerged at age 14 years. The second patient presented with levodopa-responsive paroxysmal oculogyria, a finding never before reported in ATP1A3-related disorders. Genetic testing confirmed heterozygous changes in the ATP1A3 gene in both patients, one of them novel. Discussion: Intermediate phenotypes of RDP and AHC support the concept that these two disorders are part of a spectrum. We add our cases to the phenotype–genotype correlations of ATP1A3-related disorders

Myoclonus in Ataxia–Telangiectasia

Background: Various movement disorders can be found in ataxia–telangiectasia (AT), including ataxia, dystonia, chorea, and myoclonus, but myoclonus has rarely been described as the predominant feature in AT. Case Report: We report two AT patients with prominent myoclonus, illustrating an unusual presentation of this disorder. Sequencing of the ATM gene in the first patient revealed a homozygous truncating mutation, c.5908C >T (p.Q1970*) in exon 38 of the ATM gene, which has been previously reported as a founder mutation in the Costa Rican population. Discussion: Myoclonus can be a predominant or presenting feature in AT, even without dystoni

Vertex-primitive groups and graphs of order twice the product of two distinct odd primes

A non-Cayley number is an integer n for which there exists a vertex-transitive graph on n vertices which is not a Cayley graph. In this paper, we complete the determination of the non-Cayley numbers of the form 2pq, where p, q are distinct odd primes. Earlier work of Miller and the second author had dealt with all such numbers corresponding to vertex-transitive graphs admitting an imprimitive subgroup of automorphisms. This paper deals with the primitive case. First the primitive permutation groups of degree 2pq are classified. This depends on the finite simple group classification. Then each of these groups G is examined to determine whether there are any non-Cayley graphs which admit G as a vertex-primitive subgroup of automorphisms, and admit no imprimitive subgroups. The outcome is that 2pq is a non-Cayley number, where