Learn More
OBJECTIVE To evaluate the frequency of glucocerebrosidase (GBA) mutations in cases and controls enrolled in the Genetic Epidemiology of Parkinson's Disease (GEPD) study. METHODS We sequenced all exons of the GBA gene in 278 Parkinson disease (PD) cases and 179 controls enrolled in GEPD, with a wide range of age at onset (AAO), and that included a subset(More)
BACKGROUND The effects of constant-current deep brain stimulation (DBS) have not been studied in controlled trials in patients with Parkinson's disease. We aimed to assess the safety and efficacy of bilateral constant-current DBS of the subthalamic nucleus. METHODS This prospective, randomised, multicentre controlled trial was done between Sept 26, 2005,(More)
BACKGROUND The best way to initiate dopaminergic therapy for early Parkinson disease remains unclear. OBJECTIVE To compare initial treatment with pramipexole vs levodopa in early Parkinson disease, followed by levodopa supplementation, with respect to the development of dopaminergic motor complications, other adverse events, and functional and(More)
Essential tremor (ET) is a common condition that is present in as many as 23% of elderly individuals. Our objective was to determine the risk of ET and to study the impairment resulting from ET among relatives of ET cases compared to relatives of controls. ET cases and matched controls from the Washington Heights-Inwood community, New York, and their first-(More)
BACKGROUND Mutations in parkin are estimated to account for as much as 50% of familial Parkinson disease (PD) and 18% of sporadic PD. Single heterozygous mutations in parkin in both familial and sporadic cases may also increase susceptibility to PD. To our knowledge, all previous studies have been restricted to PD cases; this is the first study to(More)
BACKGROUND 99.5% of individuals with essential tremor (ET) who live in the community have mild tremor and do not attend clinics. Clinic-based studies of ET have not allowed investigators to characterize the full clinical spectrum of this disorder. In community-based studies of ET, the primary focus has been the prevalence rather than the clinical(More)
BACKGROUND To date, nine Parkinson disease (PD) genome-wide association studies in North American, European and Asian populations have been published. The majority of studies have confirmed the association of the previously identified genetic risk factors, SNCA and MAPT, and two studies have identified three new PD susceptibility loci/genes (PARK16, BST1(More)
Essential tremor (ET) is the most prevalent movement disorder. It is unknown to what extent ET clusters within families, and the role of genetic susceptibility in etiology of ET has not been adequately investigated at the population level. The problem is largely methodological, with few well-designed studies. The Washington Height-Inwood Genetic Study of(More)
OBJECTIVE To assess the frequency and clinical characteristics of carriers of previously identified mutations in 6 genes associated with early-onset Parkinson disease (PD) and provide empirical data that can be used to inform genetic counseling. DESIGN Cross-sectional observational study. SETTING Thirteen movement disorders centers. PATIENTS Nine(More)
BACKGROUND Although essential tremor (ET) is one of the most common neurologic disorders, there have been few postmortem studies. We recently reported postmortem changes (torpedoes and Bergmann gliosis) in the cerebellar cortex in a few ET cases. OBJECTIVE To describe more extensive postmortem changes in the cerebellum in another ET case. DESIGN Case(More)