211 research outputs found
Effects of subthalamic nucleus stimulation and L-dopa in trunk kinematics of patients with Parkinson's disease.
No full textCACNA1A variant associated with generalized dystonia
No full textIntroduction CACNA1A gene variants are correlated with different disorders, including episodic ataxia type 2, spinocerebellar ataxia type 6, and familial hemiplegic migraine type 1. Despite dystonia not being a typical manifestation of CACNA1A variants, there are reports indicating a link between this gene mutation and dystonic features. Methods We report the case of a patient with a novel missense variant of the CACNA1A gene presenting headache, head and arm tremor, dystonia, episodic painful focal dystonic attacks, and unexplained falls. Results A 57-year-old woman presented with a history of neck dystonia, head and arm tremor, and headaches since age 15. In 2017, she progressively developed dystonic tremor of the head and arms with an unremarkable brain MRI. In 2018 she experienced worsening of tremor and developed painful dystonic attacks, resistant to treatments including clonazepam, trihexyphenidyl, baclofen, and levodopa/benserazide. Botulinum toxin injections for neck dystonia provided limited benefit. The next-generation sequencing exam revealed a CACNA1A gene missense variant (NM_023035.2:c.1630C > T; p.Arg544Trp). In 2021 we observed a worsening of dystonia, accompanied by weight loss, mood changes, and unexplained falls. Deep brain stimulation was considered but ruled out due to cortical atrophy and mild cognitive deficits revealed by the neuropsychological examination. Discussion Only a few studies reported dystonia as part of the clinical features in carriers of CACNA1A mutations. This case points out the relevance of a need to expand the literature on voltage-dependent P/Q-type Ca2 + channels' role in dystonia's pathogenesis and stresses the complex phenotype-genotype presentation of CACNA1A mutation
Home monitoring of motor fluctuations in Parkinson’s disease patients
No full textIn Parkinson’s disease, motor fluctuations (worsening of tremor, bradykinesia, freezing of gait, postural instability) affect up to 70% of patients within 9 years of L-dopa therapy. Nevertheless, the assessment of motor fluctuations is difficult in a medical office, and is commonly based on poorly reliable self-reports. Hence, the use of wearable sensors is desirable. In this preliminary trial, we have investigated bradykinesia and freezing of gait—FOG—symptoms by means of inertial measurement units. To this purpose, we have employed a single smartphone on the patient’s waist for FOG experiment (38 patients), and on patient thigh for LA (93 subjects). Given the sound performance achieved in this trial (AUC = 0.97 for FOG and AUC = 0.92 for LA), motor fluctuations may be estimated in domestic environments. To this end, we plan to perform measures and data processing on SensorTile, a tiny IoT module including several sensors, a microcontroller, a BlueTooth low-energy interface and microSD card, implementing an electronic diary of motor fluctuations, posture and dyskinesia during activity of daily livin
Sul testo del 'Principe'
No full textRiesamina la questione filologica del "Principe" di Machiavelli, vent'anni dopo la prima edizione critica moderna dell'opera. Approfondisce la discussione su vari punti del testo, anche in dialogo con il lavoro di altri studiosi (soprattutto Mario Martelli).The author re-examines the philological problem of Machiavelli's Il Principe, twenty years after the first modern critical edition of the work. He deepens the analysis on some points of the text, also in dialogue with the work of other scholars (especially Mario Martelli)
Unilateral and bilateral subthalamic nucleus stimulation in Parkinson's disease : effects on EMG signals of lower limb muscles during walking
No full textThe effects of subthalamic nucleus (STN) stimulation on the spatio-temporal organization of locomotor commands directed to lower limb muscles were studied in subjects with idiopathic Parkinson's Disease (PD) by recording the EMG activity produced during steady-state walking in representative thigh (rectus femoris, RF, and semimembranosus, SM) and leg (gatrocnemius medialis, GAM, and tibialis anterior, TA) muscles, under four experimental conditions: basal stimulation OFF, unilateral (right and left) stimulation ON, and bilateral stimulation ON. Locomotor profiles of all of the muscles tested were found to be substantially affected by STN stimulation, either in terms of restoration/enhancement of the main activity bursts or normalization of recruitment timing thereof. Responses showed relatively higher statistical significance in the distal groups (GAM and TA) and, within them, for the EMG components called into action over the ground-contact (ankle dorsiflexors) and midstance (ankle plantarflexors) phases of the stride cycle. In line with data obtained from clinical rating, unilateral stimulation produced less consistent EMG changes compared with bilateral stimulation. However, at variance with clinical effects, which prevailed on the side of the body contralateral to stimulation, EMG responses to unilateral stimulation were usually symmetrical. Results indicate that the impact of STN stimulation on locomotor activation of lower limb muscles in PD is characterized by: 1) substantial effects exhibiting differential topographical (distal versus proximal) and stride-phase (stance versus swing) consistency and 2) absence of the lateralized actions typically observed for the clinical signs of the disease. Interaction with the activity of functionally different executive systems might account for the observed pattern of responsiveness
Deep brain stimulation fine-tuning in Parkinson’s disease: short pulse width effect on speech
No full textBackground: subthalamic nucleus deep brain stimulation (STN-DBS) may have a detrimental effect on speech in Parkinson’s disease (PD) patients and new stimulation technologies may help in addressing this issue.
Objective: to evaluate the STN-DBS acute effect of 30 μs pulse width (30PW) versus conventional 60 μs PW
(60PW) on speech and identify the core features of voice modified by 30PW.
Methods: seven STN-DBS treated PD patients participated into a pilot cross-sectional study. Motor and speech
performances were tested by means of both automatic analysis and blinded clinical evaluations in four stimulation conditions: 30PW and 60PW both at the usual amplitude and at an amplitude just below the threshold for stimulation-related side effects.
Results: at the threshold amplitude, 30PW stimulation improved speech intelligibility for both words (p = 0.02)
and sentences (p = 0.04), without worsening motor performance. A lower but not statistically significant voice
variability and instability and percentage of stuttering disfluencies was also observed. The beneficial effect of
30PW detected by automatic analysis, was confirmed by patients’ perception.
Conclusions: STN-DBS treated patients experiencing low speech intelligibility may benefit from a 30PW stimulation trial at a higher amplitude. Deep characterization of PD speech profiles may help in a better application of recent DBS hardware advances.info:eu-repo/semantics/publishedVersio
Smartphone-based estimation of item 3.8 of the MDS-UPDRS-III for assessing leg agility in people with Parkinson’s disease”
No full textIn this paper we investigated the use of smartphone sensors and Artificial Intelligence techniques for the automatic quantification of the MDS-UPDRS-Part III Leg Agility (LA) task, representative of lower limb bradykinesia. Methods: We collected inertial data from 93 PD subjects. Four expert neurologists provided clinical evaluations. We employed a novel Artificial Neural Network approach in order to get a continuous output, going beyond the MDS-UPDRS score discretization. Results: We found a Pearson correlation of 0.92 between algorithm output and average clinical score, compared to an inter-rater agreement index of 0.88. Furthermore, the classification error was less than 0.5 scale point in about 80% cases.Conclusions:Weproposedanobjectiveandreliabletoolfor theautomaticquantificationoftheMDS-UPDRSLegAgilitytask. In perspective, this tool is part of a larger monitoring program to be carried out during activities of daily living, and managed by the patients themselves
Incidence and predictors of postural abnormalities in Parkinson’s disease: a PPMI cohort study
No full textBackground Axial postural abnormalities (PA) are invalidating symptoms of Parkinson's disease (PD). Risk factors for PA are unknown. Objectives We sought to evaluate PA incidence and risk factors over the first 4-6 years of PD. Methods We included 441 PD patients from the Parkinson's Progression Markers Initiative (PPMI) cohort with data at diagnosis and after 4-year follow-up. PA was defined according to a posture item >= 2 at the Movement Disorder Society-sponsored-revision of the Unified Parkinson's Disease Rating Scale (MDS-UPDRS) in Off therapeutic condition.The Kruskal-Wallis test was used to compare characteristics of patients without PA ('no-PA'), with PA at disease onset ('baseline-PA'), and PA developed during follow-up ('develop-PA'). To identify predictors of PA development, univariate and multivariate Cox regression analyses were performed considering demographic, clinical and therapeutic variables. Results 10.9% of patients showed PA at baseline and 23.7% developed PA within the first 4-6 years since diagnosis. Older age, malignant phenotype, higher MDS-UPDRS part III, Hoehn & Yahr, and dysautonomia (SCOPA-AUT) score, and lower levels of physical activity were predictors of PA development at the univariate analysis. Older age (Hazard ratio [HR] per year: 1.041) and higher MDS-UPDRS part III score (HR per point: 1.035) survived as PA development predictors in the multivariate analysis. Conclusions PPMI cohort data show that > 30% of PD patients present PA within the first 4-6 years of disease. Older age at onset and higher motor burden are associated with a higher risk for PA development. The protective role of physical activity merits to be further investigated
Axial symptoms as main predictors of short-term subthalamic stimulation outcome in Parkinson's disease
No full text: Deep brain stimulation (DBS) is an established therapeutic option for Parkinson's disease (PD) patients; however, a clear-cut definition of subthalamic (STN) DBS predictors in PD is lacking. We analyzed a cohort of 181 STN-treated PD patients and compared pre- vs. 1-year post-surgical motor, dyskinesia, Off time, and daily-life activities (ADL) scores. A multivariate linear regression analysis was used to evaluate the association between clinical/demographic characteristics and the extent of STN-DBS response for outcomes proving a significant change after surgery. After STN-DBS, we observed a significant improvement of motor symptoms (P < 0.001), dyskinesia (P < 0.001), and daily Off time (P < 0.001). Sex, PD duration, cognitive status, and the motor and axial response to levodopa significantly explained the motor improvement (R = 0.360, P = 0.002), with presurgical response of axial symptoms (Beta = 0.203, P = 0.025) and disease duration (Beta = 0.205, P = 0.013) being the strongest predictors. Considering the daily Off time improvement, motor and axial response at the levodopa challenge test and disease duration explained 10.6% of variance (R = 0.326, p < 0.001), with disease duration being the strongest predictor of improvement (Beta = 0.253, p: 0.001) and axial levodopa response showing a trend of significance in explaining the change (Beta = 0.173, p: 0.056). Dyskinesia improvement was not significantly explained by the model. Our findings highlight the emerging role of axial symptoms in PD and their response to levodopa as potentially pivotal also in the DBS selection process
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