Faculty Bibliography

Posthypoxic myoclonus is a rare and devastating complication of near-fatal cardiopulmonary arrest. Despite treatment with available anti-myoclonic agents, some patients may recover cognitively but remain completely disabled by severe myoclonus. We report a 16-year-old patient with severe treatment-refractory posthypoxic myoclonus, which improved markedly with administration of the drug sodium oxybate.

OBJECTIVE: To determine whether ethyl-eicosapentaenoic acid (ethyl-EPA), an omega-3 fatty acid, improves the motor features of Huntington disease. DESIGN: Six-month multicenter, randomized, double-blind, placebo-controlled trial followed by a 6-month open-label phase without disclosing initial treatment assignments. SETTING: Forty-one research sites in the United States and Canada. PATIENTS: Three hundred sixteen adults with Huntington disease, enriched for a population with shorter trinucleotide (cytosine-adenine-guanine) repeat length expansions. INTERVENTIONS: Random assignment to placebo or ethyl-EPA, 1 g twice a day, followed by open-label treatment with ethyl-EPA. MAIN OUTCOME MEASURES: Six-month change in the Total Motor Score 4 component of the Unified Huntington's Disease Rating Scale analyzed for all research participants and those with shorter cytosine-adenine-guanine repeat length expansions (<45). RESULTS: At 6 months, the Total Motor Score 4 point change for patients receiving ethyl-EPA did not differ from that for those receiving placebo. No differences were found in measures of function, cognition, or global impression. Before public disclosure of the 6-month placebo-controlled results, 192 individuals completed the open-label phase. The Total Motor Score 4 change did not worsen for those who received active treatment for 12 continuous months compared with those who received active treatment for only 6 months (2.0-point worsening; P=.02). CONCLUSION: Ethyl-EPA was not beneficial in patients with Huntington disease during 6 months of placebo-controlled evaluation. Clinical Trial Registry clinicaltrials.gov Identifier: NCT00146211.

BACKGROUND: Communicating clinical trial results to research participants is seldom accomplished in a timely or an effective manner. OBJECTIVE: To evaluate the effectiveness of a plan to communicate results in an industry-sponsored randomized controlled trial for Huntington disease. DESIGN, SETTING, AND PARTICIPANTS: Postal survey to research participants at 28 of 41 research sites (including 217 of 316 participants) in Canada and the United States. INTERVENTION: We communicated trial results by means of (1) a media release from the investigators within a day after a sponsor-issued press release; (2) a subsequent telephone call from the site staff to the participants; and (3) a conference call for research participants 2 weeks after the results were released. MAIN OUTCOME MEASURES: Source and timing for learning study results and satisfaction with their communication. RESULTS: Of the 217 study participants surveyed, 114 (52.5%) responded. Most (73.1%) first learned the study results from their site's telephone call, and 46.3% learned the results within 1 day of the sponsor's press release. Participants reported high or complete satisfaction with the site telephone call (89.3%) and conference call (82.1%) but relatively low satisfaction with the sponsor's press release (50.0%). Most respondents reported good understanding of the risks and benefits of the experimental treatment and the next steps for their participation. CONCLUSION: Surveyed research participants learned of the clinical trial results soon after public release and highly valued the personalized and accurate communication efforts by the study investigators.

OBJECTIVE: In this case report, we present a patient with normal pressure hydrocephalus in whom a lumbar drainage trial yielded a false-negative result secondary to cervical spondylosis. CLINICAL PRESENTATION: An 80-year-old woman presented with classic symptoms of normal pressure hydrocephalus as well as evidence of cervical myelopathy. Magnetic resonance imaging of the brain and spine showed enlarged ventricles and single-level cervical canal narrowing. INTERVENTION: An initial lumbar drainage trial was performed, which revealed negative results. The patient then underwent cervical decompression and fusion. Despite this procedure, the patient's symptoms continued to worsen. A repeat lumbar drainage trial was performed with positive results. Subsequently, a ventriculoperitoneal shunt was placed, resulting in significant improvement of her symptoms. CONCLUSION: This case report illustrates how altered cerebrospinal fluid flow dynamics may impact the accuracy of the lumbar spinal drainage trial in patients with normal pressure hydrocephalus.

Movement disorder emergencies include any movement disorder which evolves over hours to days, in which failure to appropriately diagnose and manage can result in patient morbidity or mortality. It is crucial that doctors recognize these emergencies with accuracy and speed by obtaining the proper history and by being familiar with the phenomenology of frequently encountered movements. These disorders will be discussed based on the most common associated involuntary movement, either parkinsonism, dystonia, chorea, tics or myoclonus, and, when available, review the workup and treatment options based on the current literature.

Focal task-specific dystonia of the musicians' hand (FTSDmh) is an occupational movement disorder that affects instrumental musicians and often derails careers. There has been speculation on the role of intense practice or the specific technical demands of various instruments as triggers for the development of FTSDmh. In this study, we review the clinical features of all published cases (899 patients) and 61 previously unpublished cases of FTSDmh. Our primary goals were to search for patterns in the clinical phenotype, and to discern if specific instrumental technical demands might be related to the development of dystonia. Symptoms of FTSDmh began at a mean age 35.7 years (SD = 10.6), with an overwhelming male predominance (M:F = 4.1:1). The right hand was preferentially affected in keyboard and plucked string players (77%), and the left hand in bowed string players (68%). Flexion movements were the most common dystonic movement in each instrument class, and fingers 3, 4, and 5, either in isolation or combination, were most frequently involved. The clinical implications of these findings and their possible relationship to the pathophysiology of focal task-specific dystonia are explored.