Huntington's disease is a rare hereditary degenerative disease with a wide variety of symptoms that encompass movement, cognition, and behavior. The genetic mutation that causes the disease has been known for more than 20 y, and animal models have illuminated a host of intracellular derangements that occur downstream of protein translation. A number of clinical trials targeting these metabolic consequences have failed to produce a single effective therapy, although clinical trials continue. New strategies targeting the protein at the level of transcription, translation, and posttranslational modification and aggregation engender new hope that a successful strategy will emerge, but there is much work ahead. Some of the clinical manifestations of the illness, particularly chorea, affective symptoms, and irritability, are amenable to palliative strategies, but physicians have a poor evidence base on which to select the best agents. Clinical trials since 2013 have dashed hopes that coenzyme Q10 or creatine might have disease-modifying properties but suggested other agents were safe or hinted at efficacy (cysteamine, selisistat, hydroxyquinoline) and could proceed into later-stage disease modification trials. The hunt for effective symptom relief suggested that pridopidine might be shown effective given the right outcome measure. This review summarizes recent progress in HD and highlights promising new strategies for slowing disease progression and relieving suffering in HD.

Purpose: Fragile X-associated tremor/ataxia syndrome (FXTAS) was originally defined as tremor, ataxia, cognitive decline, and parkinsonism in individuals who carry between 55 and 200 CGG repeats in the promoter region of the fragile X mental retardation 1 (FMR1) gene. This paper describes a series of patients who meet the definition of FXTAS who presented for care between 2009 and 2014.Methods/Results: Retrospective chart review of patients seen in the FXTAS clinic at Rush University in Chicago.Conclusions: Patients with FXTAS may present with a progressive supranuclear palsy-like phenotype and other eye movement abnormalities are common in these patients as well. Rapid worsening of gait abnormalities in FXTAS may be due to a secondary spinal issue and should be aggressively treated to regain function. Finally, the FXTAS Rating Scale score does not reliably inform the certainty of diagnosis or CGG repeat size in these patients.

Introduction Telemedicine is used successfully for evaluating patients with neurologic diseases, but has not been tested in Cervical Dystonia (CD). CD is uniquely suited for telemedicine as the scales validated to assess its severity rely only on visual inspection. The study sought to determine reliability, feasibility and satisfaction of telemedicine visits for evaluating CD. Methods Patients 18 years and older with a diagnosis of CD and scheduled for botulinum toxin (BoNT) injections were recruited, with a total of 46 enrolled. Dystonia severity was evaluated using the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS) motor severity subscale. Three total evaluations took place: an initial telemedicine evaluation on the day prior to a scheduled BoNT injection; an in-person evaluation in clinic immediately before injections; and a follow-up telemedicine visit 4–6 weeks after injection with subsequent completion, by both participants and the clinician, of satisfaction questionnaires. Agreement between telemedicine and in-person TWSTRS data was calculated using intra-class correlation coefficients (ICC) and kappa statistics where appropriate. Feasibility was determined by the percent of patients completing all three visits, and satisfaction with telemedicine visits was determined based on answers to satisfaction questionnaires. Results There was excellent agreement between visit types for the TWSTRS motor severity summary score (κ = 0.890; 95th CI 0.713; 0.949). Only two individual TWSTRS items failed to meet the threshold for moderate agreement. Feasibility and satisfaction were high. Discussion Telemedicine is reliable and feasible in the evaluation of CD. Some CD patients would prefer telemedicine visits. Participants and the clinician were satisfied with telemedicine visits.

ObjectiveTourette’s syndrome (TS) is defined by 1 year of persistent motor and vocal tics. Often, the tics are refractory to conventional pharmacologic and psychobehavioral interventions. In these patients, deep brain stimulation (DBS) may be an appropriate intervention. This paper reviews different DBS targets in TS, discusses existing evidence on the efficacy of DBS in TS, highlights adverse effects of the procedure, discusses indications and patient selection as well as future directions for DBS in TS.MethodsA literature review searching PubMed database entries between 2000 and 2015. Search terms included “DBS in Tourette Syndrome”, “Deep brain stimulation in Tourette syndrome,” and “Surgical management of Tourette Syndrome.”ResultsThough there are no universally accepted guidelines defining ideal DBS candidates for TS, age, tic severity, and treatment refractoriness are important factors to consider in patient selection. A variety of targets exist for DBS in TS, but thalamic targets and GPi are the most widely studied. Psychiatric side effects that are target specific should be monitored closely and it is possible that these adverse effects may be resolved with programing. Small randomized controlled trials support the efficacy of DBS in TS.ConclusionDBS for TS is safe and feasible, but large multi-center clinical trials are needed to determine the ideal target and optimal location within a particular target.

Objectives. As genetic testing is becoming more widely commercially available for Parkinson’s disease (PD) and may have implications regarding clinical outcomes for deep brain stimulation (DBS) and other therapies, we aimed to determine patient knowledge and attitudes towards genetic testing. Methods. A sample of 88 PD subjects with bilateral STN-DBS completed a Genetic Attitudes Questionnaire (GAQ). Knowledge and attitudes towards genetic testing were assessed. Results. The mean percent of correct responses regarding genetic testing knowledge was 58.5%. Nearly 90% of subjects were unfamiliar with Genetic Information Nondiscrimination Act (GINA). The most important reasons subjects cited in deciding whether to undergo genetic testing included (1) to be a candidate for clinical trials if positive, (2) to learn that they do not carry a mutation, and (3) because a healthcare provider had recommended it. Individuals who influence decision-making include spouses and children. About 88% of subjects would share results with spouses, children, and siblings. Discussion. These results reveal that there is a major knowledge gap regarding genetic testing in PD and the implications of testing results on treatment, work, insurance, and privacy. Also, subjects would mainly seek genetic testing to participate in clinical trials, with spouses and children being the key stakeholders in decision-making.