Joseph M. Ferrara

Psychogenic movement disorders in children.

Psychogenic movement disorders (PMDs) are well characterized in adults, but childhood‐onset PMDs have not been extensively studied. We reviewed the medical records of children who were diagnosed in our clinic with PMDs since 1988 and identified 54 patients with PMDs, representing 3.1% of our pediatric movement disorder population and 5.7% of all PMD cases. The mean age at symptom onset was 14.2 years (±2.11, range 7.6–17.7). Similar to published data in adults, two‐thirds of children exhibited multiple PMD phenotypes, the most common being tremor followed by dystonia and myoclonus. Most PMDs were abrupt in onset, paroxysmal and triggered by identifiable physical or psychological trauma. As in adults, childhood PMDs were more likely to affect females, but there was no female predominance in children less than 13 years old. Although prior studies suggest that medically unexplained symptoms beginning in childhood often follow a benign course, this cohort of children experienced marked disability and morbidity related to PMDs, including prolonged school absences and unnecessary surgical procedures in more than one‐fifth of patients.

Acquired hepatocerebral degeneration

Cirrhosis and its co-morbidities may cause a variety of neurological complications, the most common being bouts of toxic metabolic encephalopathy. A proportion of patients with chronic liver disease develop acquired hepatocerebral degeneration (AHD), a chronic progressive neurological syndrome characterized by parkinsonism, ataxia and other movement disorders. This article reviews the clinical spectrum, pathophysiology, neuroimaging features and differential diagnosis of AHD along with emerging treatment options.

Efficacy and tolerability of pregabalin in essential tremor: A randomized, double-blind, placebo-controlled, crossover trial

We performed a double-blind, crossover-design study to assess the tolerability and efficacy of pregabalin (PGB) in patients with essential tremor (ET). Twenty patients (11 women; mean age of 62.2+/-12.7 years, mean ET duration of 25.5+/-14.9 years) with ET were randomized for treatment with PGB (150-600 mg/day) or placebo, titrated over 6 weeks. Identical assessments of the Fahn-Tolosa-Marin Tremor Rating Scale (TRS) (primary endpoint), Clinical Global Impression of Change (CGI-C), Quality of Life in Essential Tremor Questionnaire (QUEST), Hamilton Anxiety Scale (HAM-A), and a sleep hygiene questionnaire (HD-16) were made at the baseline, at the end of treatment periods for both drug and placebo, and following the 2-week washout period preceding crossover. We found no improvement in any of the TRS measures and a statistically significant worsening of QUEST scores while patients were taking PGB. Adverse events were similar in frequency to previously published studies of PGB, the most common being drowsiness and dizziness.

Impact of STN-DBS on life and health satisfaction in patients with Parkinson's disease

Objective Advanced Parkinsons disease (PD) is associated with various motor and non-motor symptoms which adversely impact health-related quality of life (HRQoL). Subthalamic nucleus (STN) deep brain stimulation (DBS) has been reported to improve some dimensions of HRQoL in appropriately selected candidates. Prior studies of HRQoL following DBS have used instruments comprising a predetermined list of questions which assess issues that are generally relevant in PD, but that may not be of equal or consistent importance to all individuals. In this study, we evaluate the effect of STN DBS on quality of life using the QLSM, a modular questionnaire in which satisfaction scores for each item are weighted in light of patient-rated importance. Methods We prospectively analysed QLSM scores in 21 patients with PD (11 men, mean age 61.5±8.6 years) before STN DBS surgery and at a mean 7.4±1.5, and again at a mean 16.6±6.8 months postoperatively. Results Following STN DBS, patients experienced an improvement in HRQoL as measured by various items of the movement disorder and health modules of the QLSM. Specifically, QLSM items pertaining to energy level/enjoyment of life, independence from help, controllability/fluidity of movement and steadiness when standing and walking showed significant improvements, although items concerning general life issues (eg, occupational function, interpersonal relationships, leisure activities) did not improve. Conclusion Following STN DBS, symptomatic and functional improvements translate into higher HRQoL, with high satisfaction in domains related to movement disorders and general health.

Epidemiology and Management of Essential Tremor in Children

Essential tremor (ET) is a common, often familial, movement disorder characterized by tremor of the limbs, head, and voice. Epidemiological surveys indicate that up to 5% of the adult population has ET, and 5–30% of adults with ET report symptom onset during childhood. There is, however, little published regarding ET in the pediatric population, and no prospective studies targeted specifically to children. Retrospective studies from subspecialty movement disorder clinics indicate that childhood-onset ET is usually hereditary, begins at a mean age of 6 years, and affects boys three times as often as girls. While ET occasionally results in disability during childhood, only one-quarter of children seeing a neurologist for ET require pharmacotherapy. Small case series suggest that propranolol is effective in approximately 50% of children with ET, but controlled treatment trials are lacking.

Motor-phonic tic mimicking essential palatal myoclonus.

CONCLUSIONS DISCUSSION Essential palatal myoclonus (EPM), also referred to as essential palatal tremor, is an uncommon, idiopathic disorder characterized by rhythmic, continuous, bilateral and symmetric movement of the soft palate. Instead of an oscillatory movement typically encountered in tremor, EPM is caused by contractions of the tensor veli palatini muscle, which opens the Eustachian tube and produces a clicking noise. Tics may have a clonic phenotype, but are distinguished from myoclonus by their suppressibility, presence of a premonitory sensation which is relieved by the execution of the tic, and co-morbid neurobehavioral manifestations, such as obsessive compulsive disorder (OCD) and attention deficit hyperactivity disorder (ADHD).

Education Research: Patient telephone calls in a movement disorders center Lessons in physician-trainee education

Objective: Telephone medicine is part of clinical practice, but there are no published data on the volume, nature, and time allocation of patient-related telephone calls received in a movement disorders center. Such data might provide insights which augment patient care, and may be instructive regarding medical education, since patient-related telephone calls are often addressed by physicians-in-training. Methods: Characteristics of patient-related calls to a movement disorders center were prospectively recorded during a 2-month period. Results: A total of 633 calls were generated by 397 patients. The average time per call was 6.6 ± 4.7 minutes. Disease-related questions (35.1%), treatment-related questions (21.3%), and side effect reports (15.3%) represented the majority of calls. Patients with Parkinson disease, Tourette syndrome (TS), and atypical parkinsonism (AP) called more frequently, while patients with dystonia and tremor called less frequently. Conclusion: Patient telephone calls contribute substantially to the patient care in a movement disorders center and represent an important aspect of training, providing an opportunity for movement disorders fellows to develop independent decision-making skills and monitor effectiveness of their physician-patient counseling. Parkinson disease, Tourette syndrome (TS), and atypical parkinsonism (AP) contribute disproportionately to the total patient telephone volume, possibly due to coexisting obsessive-compulsive and impulse-control comorbidities in patients with TS, and complications or a change of diagnosis and prognosis in patients with AP. Emphasis on the management of these specific diagnostic groups early in fellowship training may be warranted.

Brain-lung-thyroid disease: clinical features of a kindred with a novel thyroid transcription factor 1 mutation.

Brain-lung-thyroid disease is a rare familial disorder caused by mutations in thyroid transcription factor 1, a gene that regulates neuronal migration. We report the clinical features of ten patients from a single family with a novel gene mutation, including observations regarding treatment. Neurologic features of the kindred included developmental delay, learning difficulties, psychosis, chorea, and dystonia. Three patients had a history of seizure, which has not been previously reported in genetically confirmed cases. Low-dose dopamine-receptor blocking drugs were poorly tolerated in 2 patients who received this therapy, levodopa improved chorea in 3 of 4 children, and diazepam was markedly effective in a single adult patient. Chorea related to brain-lung-thyroid disease appears to respond paradoxically to antidopaminergic drugs. The unusual therapeutic response seen in our patients and others may help elucidate how disease-related migratory deficits affect neural pathways associated with motor control.

Levodopa-Induced Dyskinesias in Spinocerebellar Ataxia Type 2

A56-YEAR-OLD CHInese woman presented to our clinic at age 46 years with a 2-year history of progressive instability and impairedmanualdexterity.Herphysical examination revealed broad