Parkinsonism & related disorders
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Parkinsonism Relat. Disord. · Nov 2013
Observational StudyOrthostatic myoclonus: an underrecognized cause of unsteadiness?
Recently, orthostatic myoclonus (OM) has been suggested as a cause of gait impairment and unsteadiness in neurodegenerative diseases. The aim of this study was to investigate the frequency of orthostatic myoclonus, its clinical characteristics and the underlying associated neurological disorders. ⋯ Orthostatic myoclonus is often underdiagnosed and can be considered a possible cause of unsteadiness in subjects with neurodegenerative diseases. Electromyography surface recording is thereby an aid for investigating unsteadiness of unknown origin.
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Parkinsonism Relat. Disord. · Oct 2013
Comprehensive LRRK2 and GBA screening in Portuguese patients with Parkinson's disease: identification of a new family with the LRRK2 p.Arg1441His mutation and novel missense variants.
Mutations in the LRRK2 and GBA genes are increasingly recognized as frequent determinants of familial and sporadic Parkinson's disease (PD). However, for several populations, accurate data on the prevalence and types of mutations are not available, because previous studies have not investigated the complete coding regions of these genes in large samples. We studied 312 PD patients ascertained at a single centre in Lisbon, Portugal. ⋯ Gly2019Ser is the most important genetic cause of PD known so far in Portugal and supports the contention that p. Arg1441His is also a PD-causing mutation. These findings have relevance for the genetic testing and counseling of PD patients in this population.
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Parkinsonism Relat. Disord. · Oct 2013
Neuropathology of dementia in a large cohort of patients with Parkinson's disease.
The aim of our study was to establish the contribution of distinct pathological aggregates (cortical Lewy bodies (LB), neuronal tau-inclusions and β-amyloid plaque (Aβ) deposition) in dementia related to Parkinson's disease (PD) in a large autopsy cohort. We studied the brains of 155 PD patients, 109 of whom were clinically demented. The total LB score, the Braak stages for neurofibrillary tangles (NFT) and the Thal phases for Aβ deposition were assessed in each case, according to previously published guidelines. ⋯ Extensive cortical NFTs associate unavoidably with dementia. Some patients remain cognitively intact despite high cortical LB score. In conclusion, our data strongly support a combining, yet distinct role of neocortical LBs and tau deposits.
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Parkinsonism Relat. Disord. · Sep 2013
Dissociations among daytime sleepiness, nighttime sleep, and cognitive status in Parkinson's disease.
Daytime and nighttime sleep disturbances and cognitive impairment occur frequently in Parkinson's disease (PD), but little is known about the interdependence of these non-motor complications. Thus, we examined the relationships among excessive daytime sleepiness, nighttime sleep quality and cognitive impairment in PD, including severity and specific cognitive deficits. ⋯ Daytime sleepiness in PD, but not nighttime sleep problems, is associated with cognitive impairment in PD, especially in the setting of dementia, and attention/working memory, executive function, memory, and visuospatial deficits. The presence of nighttime sleep problems is pervasive across the PD cognitive spectrum, from normal cognition to dementia, and is not independently associated with cognitive impairment or deficits in cognitive domains.
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Parkinsonism Relat. Disord. · Sep 2013
Measuring functional impact of cognitive impairment: validation of the Parkinson's disease cognitive functional rating scale.
Little is known on the impact of cognitive impairment on instrumental activities of daily living (IADL) in pre-dementia stages of Parkinson's disease (PD). ⋯ Cognitive impairment exerts measurable impact on IADL in ND-PD patients that can be reliable measured with the PD-CFRS, a PD-validated instrument that can be useful in clinical and research settings.