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A 69-year old man presents with a subacute history of worsening confusion, anxiety and abnormal gait. Brain MRI revealed an extensive non-enhancing signal abnormality of parieto-occipito-temporal white matter. CSF PCR was positive for JC virus, suggestive of progressive multifocal leukoencephalopathy (PML). Extensive workup for occult immunosuppression was(More)
OBJECTIVE The LRRK2(G2019S) mutation is the most common identifiable cause for Parkinson disease (PD), but the underlying mechanisms leading to neuronal cell death remain largely unclear. Impaired mitochondrial function and morphology have been described in different in vivo and in vitro model systems of early-onset PD (EOPD) as well as in EOPD patient(More)
OBJECTIVES Using a family study design, we describe the motor and nonmotor phenotype in probands with LRRK2 G2019S mutations and family members and compare these individuals to patients with idiopathic Parkinson disease (iPD) and unrelated controls. METHODS Probands with G2019S mutations and their first-degree relatives, subjects with iPD, and unrelated(More)
BACKGROUND Mutations in LRRK2 gene represent the most common known genetic cause of Parkinson's disease (PD). METHODOLOGY/PRINCIPAL FINDINGS We used metabolomic profiling to identify biomarkers that are associated with idiopathic and LRRK2 PD. We compared plasma metabolomic profiles of patients with PD due to the G2019S LRRK2 mutation, to asymptomatic(More)
OBJECTIVE The goal of the current investigation was to examine a cohort of symptomatic and asymptomatic LRRK2 mutation carriers, in order to address whether the reported alterations in amyloid β (Aβ) and tau species in the CSF of patients with sporadic Parkinson disease (PD) are a part of PD pathogenesis, the aging process, or a comorbid disease in patients(More)
OBJECTIVE The aim of the study was to examine the sense of smell in LRRK2 mutation carriers and in patients with sporadic PD (sPD). MATERIALS AND METHODS A total of 343 individuals were included: 275 sPD of whom 90 were de novo patients with sPD, 17 LRRK2 PD, 36 healthy LRRK2 mutation carriers, and 15 healthy family members without mutation. All subjects(More)
Dementia is a common feature in Parkinson disease (PD), the time of onset determining how patients are classified. Those patients where dementia develops prior to parkinsonism or during the first year of disease are designated as having dementia with Lewy bodies (DLB). In those where dementia develops over a year after the onset of motor signs, the(More)
OBJECTIVES To analyze the frequency of mutations associated with Parkinson's disease (PD) in a general PD population compared to patients with PD selected for deep brain stimulation (DBS) and evaluate the outcome of surgery. MATERIAL AND METHODS A total of 630 consecutive patients with PD were genetically screened, and 60 had DBS surgery, 37 subthalamic(More)
INTRODUCTION Cognitive impairment in early Parkinson's disease (PD) is common and distinct from early Alzheimer's disease. Predictors and mechanisms are only partially known, but α-synuclein, amyloid-β and tau dysmetabolism may be involved. Our aim was to study associations between cerebrospinal fluid biomarkers (CSF) and cognition in non-dementia PD(More)
Mutations in the leucine-rich repeat kinase 2 gene are the most common cause of autosomal dominant Parkinson's disease (PD). To assess the cerebrospinal fluid (CSF) levels of α-synuclein oligomers in symptomatic and asymptomatic leucine-rich repeat kinase 2 mutation carriers, we used enzyme-linked immunosorbent assays (ELISA) to investigate total and(More)