Sol De Jesus

Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation A Multicenter Case Series

ADCY5 mutations have been reported as a cause of early onset hyperkinetic movements associated with delayed motor milestones, hypotonia, and exacerbation during sleep. The movement disorder may be continuous or episodic, and can vary considerably in severity within families and in individuals. The authors report a case series of 3 patients with ADCY5 mutations treated with deep brain stimulation after unsuccessful medication trials. All had extensive imaging, metabolic, and genetic testing prior to confirmation of their ADCY5 mutation. Two of the patients had the c.1252C>T; p.R418W mutation, while the youngest and most severely affected had a de novo c.2080_2088del; p.K694_M696 mutation. All had variable and incomplete, but positive responses to deep brain stimulation. The authors conclude that deep brain stimulation may provide benefit in ADCY5-related movement disorders. Long-term efficacy remains to be confirmed by longitudinal observation. ADCY5 should be considered in the differential diagnosis of early onset hyperkinetic movement disorders, and may respond to deep brain stimulation.

A Polysomnographic Study of Parkinson's Disease Sleep Architecture.

Sleep disturbance is a common nonmotor phenomenon in Parkinsons disease (PD) affecting patients quality of life. In this study, we examined the association between clinical characteristics with sleep disorders and sleep architecture patterns in a PD cohort. Patients underwent a standardized polysomnography study (PSG) in their “on medication” state. We observed that male gender and disease duration were independently associated with obstructive sleep apnea (OSA). Only lower levodopa equivalent dose (LED) was associated with periodic limb movement disorders (PLMD). REM sleep behavior disorder (RBD) was more common among older patients, with higher MDS-UPDRS III scores, and LED. None of the investigated variables were associated with the awakenings/arousals (A/A). Sleep efficiency was predicted by amantadine usage and age, while sleep stage 1 was predicted by dopamine agonists and Hoehn & Yahr severity. The use of MAO-B inhibitors and MDS-UPDRS part III were predictors of sleep stages 2 and 3. Age was the only predictor of REM sleep stage and gender for total sleep time. We conclude that sleep disorders and architecture are poorly predictable by clinical PD characteristics and other disease related factors must also be contributing to these sleep disturbances.

Depressive Symptoms are Frequent in Atypical Parkinsonian Disorders

The objective of this study was to compare the incidence and prevalence of depressive symptoms in atypical parkinsonian (APD) syndromes versus Parkinson disease (PD).

Novel targets and stimulation paradigms for deep brain stimulation

Deep brain stimulation (DBS) is an accepted therapy for appropriately selected patients with movement disorders and psychiatric disease. The recent advances in lead technology and the advent of novel stimulation parameters have spurred a number of improvements that will likely be implemented in the clinical setting. Although the mechanisms and biology of DBS remain poorly understood, the progress in our understanding of network level dysfunction has driven the introduction of a variety of new targets and approaches to the treatment of human disease. Here we summarize the recent advances in novel stimulation patterns and customized field shaping. We also review new targets, novel applications of DBS and the immediate and long-term horizon for this therapy.

A pilot trial of square biphasic pulse deep brain stimulation for dystonia: The BIP dystonia study: BIP Dystonia Study

Background: Dystonia often has inconsistent benefits and requires more energy‐demanding DBS settings. Studies suggest that squared biphasic pulses could provide significant clinical benefit; however, dystonia patients have not been explored.

Surprising prevalence of unrecognized vitamin D3 deficiency in fall and winter months in neuromuscular clinics in Central Pennsylvania: a pilot study.

Objectives: The Harvard biomarker study published in October 2013 in Neurology journal showed a deficiency of vitamin D in 17.6% patients with Parkinson disease compared with 9.3% controls (adults without neurological symptoms). Similar determination among neuromuscular disease patients is lacking. Methods: A retrospective analysis of vitamin D levels was performed on 73 patients seen between September and March in the Neuromuscular Central Pennsylvania tertiary referral clinic. Patient selection was random. Patients with amyotrophic lateral sclerosis were excluded from this study. Results: The prevalence of vitamin D deficiency was significantly above the Harvard Biomarker control values considering similar climatic and ethnic factors. Conclusions: Although 25-hydroxy-D3, produced in liver and skin, can be low in fall and winter, significant lower levels were seen (P > 000.1) among the patients seen randomly in our neuromuscular clinic compared with recently published controls. Similar studies from different geographical zones of the Unite States considering seasonal influences are worth studying. Whether checking vitamin D3 blood level should become a standard practice is the bigger issue.

Hospitalization and rehospitalization in Parkinson disease patients: Data from the National Parkinson Foundation Centers of Excellence

Background Patients with Parkinson disease (PD) are at high risk of hospital encounters with increasing morbidity and mortality. This study aimed to determine the rate of hospital encounters in a cohort followed over 5 years and to identify associated factors. Methods We queried the data from the International Multicenter National Parkinson Foundation Quality Improvement study. Multivariate logistic regression with backward selection was performed to identify factors associated with hospital encounter prior to baseline visit. Kaplan-Meier estimates were obtained and Cox regression performed on time to hospital encounter after the baseline visit. Results Of the 7,507 PD patients (mean age 66.5±9.9 years and disease duration 8.9±6.4 years at baseline visit), 1919 (25.6%) had a history of a hospital encounter prior to their baseline visit. Significant factors associated with a history of a hospital encounter prior to baseline included race (white race: OR 0.49), utilization of physical therapy (OR 1.47), history of deep brain stimulation (OR 1.87), number of comorbidities (OR 1.30), caregiver strain (OR 1.17 per standard deviation), and the standardized Timed Up and Go Test (OR 1.21). Patients with a history of hospitalization prior to the baseline were more likely to have a re-hospitalization (HR1.67, P<0.0001) compared to those without a prior hospitalization. In addition, the time to hospital encounter from baseline was significantly associated with age and number of medications. In patients with a history of hospitalization prior to the baseline visit, time to a second hospital encounter was significantly associated with caregiver strain and number of comorbidities. Conclusion Hospitalization and re-hospitalization were common in this cohort of people with PD. Our results suggest addressing caregiver burden, simplifying medications, and emphasizing primary and multidisciplinary care for comorbidities are potential avenues to explore for reducing hospitalization rates.