23 research outputs found

    Dissociating Explicit and Implicit Timing in Parkinson\u2019s Disease Patients: Evidence from Bisection and Foreperiod Tasks

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    A consistent body of literature reported that Parkinson\u2019s disease (PD) is marked by severe deficits in temporal processing. However, the exact nature of timing problems in PD patients is still elusive. In particular, what remains unclear is whether the temporal dysfunction observed in PD patients regards explicit and/or implicit timing. Explicit timing tasks require participants to attend to the duration of the stimulus, whereas in implicit timing tasks no explicit instruction to process time is received but time still affects performance. In the present study, we investigated temporal ability in PD by comparing 20 PD participants and 20 control participants in both explicit and implicit timing tasks. Specifically, we used a time bisection task to investigate explicit timing and a foreperiod task for implicit timing. Moreover, this is the first study investigating sequential effects in PD participants. Results showed preserved temporal ability in PD participants in the implicit timing task only (i.e., normal foreperiod and sequential effects). By contrast, PD participants failed in the explicit timing task as they displayed shorter perceived durations and higher variability compared to controls. Overall, the dissociation reported here supports the idea that timing can be differentiated according to whether it is explicitly or implicitly processed, and that PD participants are selectively impaired in the explicit processing of time

    Clinical correlates of “pure” essential tremor: the TITAN study

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    BackgroundTo date, there are no large studies delineating the clinical correlates of “pure” essential tremor (ET) according to its new definition.MethodsFrom the ITAlian tremor Network (TITAN) database, we extracted data from patients with a diagnosis of “pure” ET and excluded those with other tremor classifications, including ET-plus, focal, and task-specific tremor, which were formerly considered parts of the ET spectrum.ResultsOut of 653 subjects recruited in the TITAN study by January 2022, the data of 208 (31.8%) “pure” ET patients (86M/122F) were analyzed. The distribution of age at onset was found to be bimodal. The proportion of familial cases by the age-at-onset class of 20 years showed significant differences, with sporadic cases representing the large majority of the class with an age at onset above 60 years. Patients with a positive family history of tremor had a younger onset and were more likely to have leg involvement than sporadic patients despite a similar disease duration. Early-onset and late-onset cases were different in terms of tremor distribution at onset and tremor severity, likely as a function of longer disease duration, yet without differences in terms of quality of life, which suggests a relatively benign progression. Treatment patterns and outcomes revealed that up to 40% of the sample was unsatisfied with the current pharmacological options.DiscussionThe findings reported in the study provide new insights, especially with regard to a possible inversed sex distribution, and to the genetic backgrounds of “pure” ET, given that familial cases were evenly distributed across age-at-onset classes of 20 years. Deep clinical profiling of “pure” ET, for instance, according to age at onset, might increase the clinical value of this syndrome in identifying pathogenetic hypotheses and therapeutic strategies

    Dissociating Explicit and Implicit Timing in Parkinson’s Disease Patients: Evidence from Bisection and Foreperiod Tasks

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    A consistent body of literature reported that Parkinson’s disease (PD) is marked by severe deficits in temporal processing. However, the exact nature of timing problems in PD patients is still elusive. In particular, what remains unclear is whether the temporal dysfunction observed in PD patients regards explicit and/or implicit timing. Explicit timing tasks require participants to attend to the duration of the stimulus, whereas in implicit timing tasks no explicit instruction to process time is received but time still affects performance. In the present study, we investigated temporal ability in PD by comparing 20 PD participants and 20 control participants in both explicit and implicit timing tasks. Specifically, we used a time bisection task to investigate explicit timing and a foreperiod task for implicit timing. Moreover, this is the first study investigating sequential effects in PD participants. Results showed preserved temporal ability in PD participants in the implicit timing task only (i.e., normal foreperiod and sequential effects). By contrast, PD participants failed in the explicit timing task as they displayed shorter perceived durations and higher variability compared to controls. Overall, the dissociation reported here supports the idea that timing can be differentiated according to whether it is explicitly or implicitly processed, and that PD participants are selectively impaired in the explicit processing of time

    CARDIAC AUTONOMIC NERVOUS SYSTEM EVALUATION IN PARKINSON DISEASE AND MULTISYSTEM ATROPHY: VALUE OF HRV

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    A protocol for Cardiac Autonomic Nervous System Evaluation (CANSE) was used to quantify the degree of dysautonomia in Parkinson disease (PD) and Multisystem Atrophy (MSA) patients (pts). Methods: 14 pts, 12 with PD, 2 with MSA and 14 normal controls (NC) studied. Neurological derangement quantified with UPDR III and Hoehn/Yahr scales (HYS). CANSE performed according to the 5-tests Ewing Score (ES) [0-1/10 (normal), 2-4/10 (borderline), 5-10/10 (abnormal)] and with and Heart Rate Variability analysis (HRV), carried out in the time-domain (TD) and frequency-domain (FD), calculated in 5-minutes intervals during sleep and activity from 24h ECG Holter recordings. Results: only for HYS evidenced significantly higher value in MSA as compared with PD (p< 0.01). ES was higher in MSA (mean score 5.5) compared with PD (2.88), PD + diabetes (3.66) and NC (1.5). SDNN index and r-MSSD (p< 0.05) were abnormal in PD+MSA. Total Power, LF-HF components and LF/HF ratio were abnormal in PD/MSA. Higher ES and HRV abnormality correlated with neurological derangement. Conclusions: CANSE provides accurate assessment of ANS derangement in PD/MDA pts, useful to guide clinical and drugs managemen

    Rapid Eye Movement Sleep Behavior Disorder: A Window on the Emotional World of Parkinson Disease, A Window on Dreaming

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    REM sleep behavior disorder (RBD) is a parasomnia characterized by motor activity during sleep with dream mentation. Aggressiveness has been considered a peculiar feature of dreams associated with RBD, despite normal score in aggressiveness scales during wakefulness. We aimed to measure daytime aggressiveness and analyze dream contents in a population of patients with Parkinson disease (PD) with and without RBD

    Cardiovascular autonomic nervous system evaluation in Parkinson disease and multiple system atrophy

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    Autonomic nervous system dysfunction (ANSd) heralds or follows motor symptoms (MS) in Parkinson disease (PD), but may precede years and progress more rapidly in multiple system atrophy (MSA). Cardiac dysautonomia severity correlates with disabling symptoms thus a Cardiac Autonomic Nervous System Evaluation protocol (CANSEp) is useful to assess ANSd in PD and MSA patients

    SLC25A46 mutations in patients with Parkinson's Disease and optic atrophy

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    Mutations in the gene encoding the mitochondrial carrier protein SLC25A46 are known to cause optic atrophy associated with peripheral neuropathy and congenital pontocerebellar hypoplasia. We found novel biallelic SLC25A46 mutations (p.H137R, p.A401Sfs*17) in a patient with Parkinson's disease and optic atrophy. Screening of six unrelated patients with parkinsonism and optic atrophy allowed us to identify two additional mutations (p.A176V, p.K256R) in a second patient. All identified variants are predicted likely pathogenic and affect very conserved protein residues. These findings suggest for the first time a possible link between Parkinson's Disease and SLC25A46 mutations. Replication in additional studies is needed to conclusively prove this link
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