Joel S. Perlmutter

Learn More
We performed a genome-wide association study (GWAS) in 1,713 individuals of European ancestry with Parkinson's disease (PD) and 3,978 controls. After replication in 3,361 cases and 4,573 controls, we observed two strong association signals, one in the gene encoding alpha-synuclein (SNCA; rs2736990, OR = 1.23, P = 2.24 x 10(-16)) and another at the MAPT(More)
We conducted a meta-analysis of Parkinson's disease genome-wide association studies using a common set of 7,893,274 variants across 13,708 cases and 95,282 controls. Twenty-six loci were identified as having genome-wide significant association; these and 6 additional previously reported loci were then tested in an independent set of 5,353 cases and 5,551(More)
Classical accounts of the pathophysiology of Parkinson's disease have emphasized degeneration of dopaminergic nigrostriatal neurons with consequent dysfunction of cortico-striatal-thalamic loops. In contrast, post-mortem studies indicate that pathological changes in Parkinson's disease (Lewy neurites and Lewy bodies) first appear primarily in the lower(More)
BACKGROUND Parkinson disease (PD) is a degenerative neurological disorder for which no treatment has been shown to slow the progression. OBJECTIVE To determine whether a range of dosages of coenzyme Q10 is safe and well tolerated and could slow the functional decline in PD. DESIGN Multicenter, randomized, parallel-group, placebo-controlled,(More)
The aim of this study is to assess brain activity measured during continuous performance of design tracing tasks. Three issues were addressed: identification of brain areas involved in performing maze and square tracing tasks, investigation of differences and similarities in these areas related to dominant and nondominant hand performance, and most(More)
Extant methods for anatomical localization within a physiological image are inadequate for precise regional correlations between anatomy and physiology. We have developed a method for determining the location of any region of interest within a positron emission tomographic (PET) image by transformation of the tomographic location coordinates into(More)
OBJECTIVE To test the hypothesis that subthalamic nucleus (STN) stimulation in Parkinson disease (PD) patients affects working memory and response inhibition performance, particularly under conditions of high demand on cognitive control. METHODS To test this hypothesis, spatial working memory (spatial delayed response [SDR]) and response inhibition(More)
OBJECTIVE To assess whether subthalamic nuclei (STN) stimulation's primary mechanism of action is to drive or inhibit output neurons. METHODS Cerebral blood flow responses to STN stimulation were measured using PET in 13 patients with Parkinson disease. Patients were scanned with stimulators off and on (six scans each condition). Clinical ratings, EMG,(More)
OBJECTIVE To determine whether welding-related parkinsonism differs from idiopathic PD. BACKGROUND Welding is considered a cause of parkinsonism, but little information is available about the clinical features exhibited by patients or whether this is a distinct disorder. METHODS The authors performed a case-control study that compared the clinical(More)
We investigated swallowing abnormalities in patients with Parkinson's disease, the relationship between these abnormalities and general parkinsonian signs, as well as the response to therapy. Twenty patients and 13 controls were evaluated with clinical rating scales and modified barium swallows before and after oral levodopa (in combination with carbidopa).(More)