Both recessive and dominant genetic forms of Parkinson's disease have been described. The aim of this study was to assess the contribution of several genes to the pathophysiology of early onset ...Parkinson's disease in a cohort from central Spain.
We analyzed a cohort of 117 unrelated patients with early onset Parkinson's disease using a pipeline, based on a combination of a next-generation sequencing panel of 17 genes previously related with Parkinson's disease and other Parkinsonisms and CNV screening.
Twenty-six patients (22.22%) carried likely pathogenic variants in PARK2, LRRK2, PINK1, or GBA. The gene most frequently mutated was PARK2, and p.Asn52Metfs*29 was the most common variation in this gene. Pathogenic variants were not observed in genes SNCA, FBXO7, PARK7, HTRA2, DNAJC6, PLA2G6, and UCHL1. Co-occurrence of pathogenic variants involving two genes was observed in ATP13A2 and PARK2 genes, as well as LRRK2 and GIGYF2 genes.
Our results contribute to the understanding of the genetic architecture associated with early onset Parkinson's disease, showing both PARK2 and LRRK2 play an important role in Spanish Parkinson's disease patients. Rare variants in ATP13A2 and GIGYF2 may contribute to PD risk. However, a large proportion of genetic components remains unknown. This study might contribute to genetic diagnosis and counseling for families with early onset Parkinson's disease.
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
Propriospinal myoclonus is a hyperkinetic movement disorder characterized by painless jerks of the axial muscles, mainly in the trunk and hips. A 53-year-old woman was referred to the Sleep Unit with ...trunk flexion movements in the supine position during the wake-sleep transition and during sleep, with premonitory sensation. We performed 2 video polysomnographic recordings. In the first video polysomnogram, the recording showed jerks of the trunk and abdomen that appeared when the posterior dominant alpha rhythm disappeared; during these jerks the patient stayed at stage 1 or stage 2 of non-rapid eye movement sleep. The second video polysomnogram included several electromyogram electrodes located at the masseter, deltoid, rectus abdominis (T9-T0 level), vastus lateralis, and tibialis anterior muscles. This polysomnogram revealed 123 repetitive arrhythmic jerks with variable duration, usually lasting 500-1,900 ms each (906 ± 0.4 ms). In our patient, propriospinal myoclonus was detected up to stage 2 of non-rapid eye movement sleep and even at rapid eye movement sleep.
Ramos RW, Viñas LL, Martín ER, Cárdenas CL, Pereda AF, Manzanares LL. Propriospinal myoclonus: diagnostic value of polymyography and video polysomnography.
. 2023;19(5):995-998.
For specialists in charge of Parkinson's disease (PD), one of the most time-consuming tasks of the consultations is the assessment of symptoms and motor fluctuations. This task is complex and is ...usually based on the information provided by the patients themselves, which in most cases is complex and biased. In recent times, different tools have appeared on the market that allow automatic ambulatory monitoring. The MoMoPa-EC clinical trial (NCT04176302) investigates the effect of one of these tools-Sense4Care's STAT-ON-can have on routine clinical practice. In this sub-analysis the agreement between the Hauser diaries and the STAT-ON sensor is analyzed.
Eighty four patients from MoMoPa-EC cohort were included in this sub-analysis. The intraclass correlation coefficient was calculated between the patient diary entries and the sensor data.
The intraclass correlation coefficient of both methods was 0.57 (95% CI: 0.3-0.73) for the OFF time (%), 0.48 (95% CI: 0.17-0.68) for the time in ON (%), and 0.65 (95% CI%: 0.44-0.78) for the time with dyskinesias (%). Furthermore, the Spearman correlations with the UPDRS scale have been analyzed for different parameters of the two methods. The maximum correlation found was -0.63 (
< 0.001) between Mean Fluidity (one of the variables offered by the STAT-dON) and factor 1 of the UPDRS.
This sub-analysis shows a moderate concordance between the two tools, it is clearly appreciated that the correlation between the different UPDRS indices is better with the STAT-ON than with the Hauser diary.
https://clinicaltrials.gov/show/NCT04176302 (NCT04176302).
Background and Objective
Caregiver burden in Parkinson's disease (PD) has been studied in many cross‐sectional studies but poorly in longitudinal ones. The aim of the present study was to analyze the ...change in burden, strain, mood, and quality of life (QoL) after a 2‐year follow‐up in a cohort of caregivers of patients with PD and also to identify predictors of these changes.
Patients and Methods
PD patients and their caregivers who were recruited from January/2016 to November/2017 from 35 centers of Spain from the COPPADIS cohort were included in the study. They were evaluated again at 2‐year follow‐up. Caregivers completed the Zarit Caregiver Burden Inventory (ZCBI), Caregiver Strain Index (CSI), Beck Depression Inventory‐II (BDI‐II), and EUROHIS‐QOL 8‐item index (EUROHIS‐QOL8) at baseline (V0) and at 2‐year follow‐up (V2). General linear model repeated measure and lineal regression models were applied.
Results
Significant changes, indicating an impairment, were detected on the total score of the ZCBI (p < 0.0001), CSI (p < 0.0001), BDI‐II (p = 0.024), and EUROHIS‐QOL8 (p = 0.002) in 192 PD caregivers (58.82 ± 11.71 years old; 69.3% were females). Mood impairment (BDI‐II; β = 0.652; p < 0.0001) in patients from V0 to V2 was the strongest factor associated with caregiver's mood impairment after the 2‐year follow‐up. Caregiver's mood impairment was the strongest factor associated with an increase from V0 to V2 on the total score of the ZCBI (β = 0.416; p < 0.0001), CSI (β = 0.277; p = 0.001), and EUROHIS‐QOL (β = 0.397; p = 0.002).
Conclusion
Burden, strain, mood, and QoL were impaired in caregivers of PD patients after a 2‐year follow‐up. Mood changes in both the patient and the caregiver are key aspects related to caregiver burden increase.
Key points
The present study is, to date, the largest prospective longitudinal study conducted for analyzing how burden, strain, mood, and quality of life change (QoL) in the principal caregiver of a patient with Parkinson's disease (PD).
After 2 years of follow‐up, the status of the principal caregiver of a patient with PD worsens as a whole with an increase in burden and stress and a worsening in mood and QoL.
Mood changes in the patient and in the caregiver as well are key aspects related to increase in caregiver burden.
These findings suggest that it could be essential to detect depressive symptoms both in the patient and in the caregiver too.
ABSTRACT
Background
Dopamine replacement therapy reduces most motor and nonmotor features of Parkinson's disease. However, with disease progression, adjustments of dopaminergics and the application ...of advanced therapies must be considered.
Objectives
To validate the OPTIMIPARK questionnaire as a tool to help clinicians make therapeutic decisions on patients treated with levodopa.
Methods
We tested a questionnaire including 9 items encompassing motor and nonmotor signs, complications, and disability in a multicenter, observational, cross‐sectional study. A neurologist (neurologist 1 N1) assessed patients according to regular clinical practice and blinded to the OPTIMIPARK questionnaire score. Therapeutic decisions were classified as “no changes,” “adjustment of conventional treatment,” and “advanced therapy indicated.” External neurologists (neurologist 3 N3 and neurologist 4 N4), who only knew the patient age, years of disease, and current treatment, made their therapeutic decisions based on the OPTIMIPARK score. Concordance between the criterion of the N1 versus the OPTIMIPARK‐based N3–N4 consensus was analyzed applying weighted κ. The area under Receiving Operating Characteristic (ROC) curves was calculated for OPTIMIPARK scores.
Results
A total of 113 patients with Parkinson's disease were included. The OPTIMIPARK‐based decision led to a higher proportion of patients requiring therapeutic modification than N1 assessment (74% vs. 60%; P = 0.002). Concordance between the N1 and N3–N4 decisions was moderate, whereas interobserver agreement among N3 and N4 was high. Area Under the Curve(AUC) values of 0.83 and 0.82 were found for “no changes” and “advanced therapy indicated” decisions by the N1 neurologist.
Conclusions
OPTIMIPARK might be more sensitive than regular clinical practice in suggesting the need for a therapeutic change. Furthermore, the low and high scores identify with high accuracy well‐adjusted patients and candidates for advanced therapy, respectively.
The use of information and communication technologies (ICTs) to improve the quality of life of people with chronic and degenerative diseases is a topic receiving much attention nowadays. We can ...observe that new technologies have driven numerous scientific projects in e-Health, encompassing Smart and Mobile Health, in order to address all the matters related to data processing and health. Our work focuses on helping to improve the quality of life of people with Parkinson's Disease (PD) and Essential Tremor (ET) by means of a low-cost platform that enables them to read books in an easy manner. Our system is composed of two robotic arms and a graphical interface developed for Android platforms. After several tests, our proposal has achieved a 96.5% accuracy for A4 80 gr non-glossy paper. Moreover, our system has outperformed the state-of-the-art platforms considering different types of paper and inclined surfaces. The feedback from ET and PD patients was collected at "La Princesa" University Hospital in Madrid and was used to study the user experience. Several features such as ease of use, speed, correct behavior or confidence were measured via patient feedback, and a high level of satisfaction was awarded to most of them. According to the patients, our system is a promising tool for facilitating the activity of reading.
We aimed to assess the effects of safinamide on depression, motor symptoms, and the serotonin syndrome related to its co-administration with antidepressants in patients with Parkinson's disease (PD).
...We retrospectively analyzed the data of patients at 1 and 3 months of follow-up compared to baseline.
= 82 (safinamide 50 mg = 22, 100 mg = 60, with antidepressants = 44). First, we found improvement in depression (Hamilton Depression Rating Scale: -6 ± 5.10 at 1 month and -7.27 ± 5.10 at 3 months,
< 0.0001; Patient Global Impression of Improvement Scale: 60.3% and 69.5% of patients at 1 and 3 months reported some improvement). Second, safinamide improved the daily life activities and motor symptoms/motor complications (Unified Parkinson's Disease Rating Scale (UPDRS-II): -2.51 ± 6.30 and -2.47 ± 6.11 at 1 and 3 months,
< 0.0001; III: -3.58 ± 8.68 and -4.03 ± 8.95 at 1 and 3 months,
< 0.0001; IV: -0.61 ± 2.61 and -0.8 ± 2.53 at 1 and 3 months,
< 0.0001). Third, 7.31% and 8.53% of patients developed non-severe adverse events related to safinamide at 1 and 3 months. Serotonin syndrome was not observed in the patients treated with antidepressants; some isolated serotonin syndrome symptoms were reported.
Safinamide could be useful for treating depression in PD; it was effective for motor symptoms and motor complications and safe even when co-administered with antidepressants.
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