Multifactorial assessment of Parkinson's disease course and outcomes using trajectory modeling in a multiethnic, multisite cohort - extension of the LONG-PD study.

Background: The severity, progression, and outcomes of motor and non-motor symptoms in Parkinson's disease (PD) are quite variable. Following PD cohorts holds promise for identifying predictors of disease severity and progression.

Methods: PD patients ( = 871) were enrolled at five sites.

Variable Effects of PD-Risk Associated SNPs and Variants in Parkinsonism-Associated Genes on Disease Phenotype in a Community-Based Cohort.

Genetic risk factors for Parkinson's disease (PD) risk and progression have been identified from genome-wide association studies (GWAS), as well as studies of familial forms of PD, implicating common variants at more than 90 loci and pathogenic or likely pathogenic variants at 16 loci. With the goal of understanding whether genetic variants at these PD-risk loci/genes differentially contribute to individual clinical phenotypic characteristics of PD, we used structured clinical documentation tools within the electronic medical record in an effort to provide a standardized and detailed clinical phenotypic characterization at the point of care in a cohort of 856 PD patients. We analyzed common SNPs identified in previous GWAS studies, as well as low-frequency and rare variants at parkinsonism-associated genes in the MDSgene database for their association with individual clinical characteristics and test scores at baseline assessment in our community-based PD patient cohort: age at onset, disease duration, Unified Parkinson's Disease Rating Scale I-VI, cognitive status, initial and baseline motor and non-motor symptoms, complications of levodopa therapy, comorbidities and family history of neurological disease with one or more than one affected family members.

Longitudinal Monitoring of Parkinson's Disease in Different Ethnic Cohorts: The DodoNA and LONG-PD Study.

Different factors influence severity, progression, and outcomes in Parkinson's disease (PD). Lack of standardized clinical assessment limits comparison of outcomes and availability of well-characterized cohorts for collaborative studies. Structured clinical documentation support (SCDS) was developed within the DNA Predictions to Improve Neurological Health (DodoNA) project to standardize clinical assessment and identify molecular predictors of disease progression.

Deep brain stimulation in nonparkinsonian movement disorders and emerging technologies, targets, and therapeutic promises in deep brain stimulation.

This article focuses on the evolution of deep brain stimulation (DBS) targets within the brain, beginning with the discovery of DBS's potential in non-Parkinson disease movement disorders. DBS has gained in popularity and applicability for a growing number of neuropathologic conditions with neural network disorders and dysfunction. Targets within the brain have been based frequently on historical sites used for ablative surgeries in years past, derived from experiment and experience but also have arisen via elucidation of neural networks, transmitter function and location, disease neuropathology, and also, fortuitous discovery.

Therapeutic challenges in dystonia.

Because dystonia can vary in clinical presentation and etiology, proper diagnosis and classification of these disorders are important in making therapeutic decisions. In primary dystonia, treatment is generally geared toward alleviating symptoms rather than curing the underlying condition, therefore severity of contractions, pain, and functional and social impact are also factors to consider in determining if and how to initiate therapy. On the other hand, if a secondary cause is identified, then it is often appropriate to direct treatment toward the underlying disorder.

Dystonia.

Dystonia is a disorder of involuntary sustained muscle contractions. It is commonly classified by age of onset, distribution of involved body regions, and etiology. The pathophysiolgy of this condition is complex and imperfectly understood.