Parkinsonism & related disorders
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Parkinsonism Relat. Disord. · Sep 2019
Multicenter StudyLow prevalence of known pathogenic mutations in dominant PD genes: A Swedish multicenter study.
To determine the frequency of mutations known to cause autosomal dominant Parkinson disease (PD) in a series with more than 10% of Sweden's estimated number of PD patients. ⋯ In relative terms, the LRRK2 p.(Gly2019Ser) variant is the most frequent mutation among Swedish or international PD patients, and in gnomAD. SNCA duplications were the second most common of the mutations examined. In absolute terms, however, these known pathogenic variants in dominant PD genes are generally very rare and can only explain a minute fraction of familial aggregation of PD. Additional genetic and environmental mechanisms may explain the frequent co-occurrence of PD in close relatives.
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Parkinsonism Relat. Disord. · Apr 2016
Multicenter StudySatisfaction with Life Scale (SLS-6): First validation study in Parkinson's disease population.
To explore the psychometric attributes of a new Satisfaction with Life Scale (SLS-6) in a wide Spanish-speaking population with Parkinson's disease (PD). ⋯ The results suggest that SLS-6 is an easy, feasible, acceptable, consistent, precise and valid measure to evaluate satisfaction with life in PD patients.
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Parkinsonism Relat. Disord. · Mar 2015
Randomized Controlled Trial Multicenter StudyCSF tau and tau/Aβ42 predict cognitive decline in Parkinson's disease.
A substantial proportion of patients with Parkinson's disease (PD) have concomitant cognitive dysfunction. Identification of biomarker profiles that predict which PD patients have a greater likelihood for progression of cognitive symptoms is pressingly needed for future treatment and prevention approaches. ⋯ The current study has, for the first time, demonstrated the possible involvement of tau species, whose gene (MAPT) has been consistently linked to the risk of PD by genome-wide association studies, in the progression of cognitive symptoms in PD.
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Parkinsonism Relat. Disord. · Mar 2015
Multicenter StudyTREM2 R47H variant and risk of essential tremor: a cross-sectional international multicenter study.
Essential tremor (ET) is the most frequent movement disorder in adults. Its pathophysiology is not clearly understood, however there is growing evidence showing common etiologic factors with other neurodegenerative disorders such as Alzheimer's and Parkinson's diseases (AD, PD). Recently, a rare p.R47H substitution (rs75932628) in the TREM2 protein (triggering receptor expressed on myeloid cells 2; OMIM: *605086) has been proposed as a risk factor for AD, PD and amyotrophic lateral sclerosis (ALS). The objective of the study was to determine whether TREM2 p.R47H allele is also a risk factor for developing ET. ⋯ These results argue in favor of population-specific differences in the allelic distribution and suggest that p.R47H (rs75932628) variant may contribute to the susceptibility of ET in Spanish population. However, taking into account the very low frequency of p.R47H, further confirmatory analyses of larger ET series are needed.
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Parkinsonism Relat. Disord. · Mar 2015
Multicenter Study Clinical Trial Observational StudyReduction of gastrointestinal symptoms in Parkinson's disease after a switch from oral therapy to rotigotine transdermal patch: a non-interventional prospective multicenter trial.
Gastrointestinal (GI) symptoms are common among patients with Parkinson's disease (PD), due to both the disease itself and anti-PD drugs. We hypothesized that transdermal drug administration may result in fewer GI problems. This prospective observational study (ClinicalTrials.gov: NCT01159691) investigated effect of switching to rotigotine transdermal patch from oral anti-PD medications in patients with PD and existing GI symptoms. ⋯ This study suggests that a switch from oral anti-PD medications to rotigotine transdermal patch may improve existing GI symptoms among patients with PD. Additional controlled studies are needed to confirm this finding.