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Background/Objectives: Cognitive impairment in spinocerebellar ataxia patients has been reported since the early-disease stage. We aimed to assess cognitive differences in SCA1 and SCA2 patients. Methods: We performed neuropsychological (NPS) and neurophysiological (auditory event-related potentials, aERPs) assessments in 16 SCA1 and 18 SCA2 consecutive patients. Furthermore, clinical information (age at onset, disease duration, motor disability) was collected. Results: NPS tests yielded scores in the normal range in both groups but with lower scores in the Frontal Assessment Battery (p < 0.05) and Visual Analogue Test for Anosognosia for motor impairment (p < 0.05) in SCA1, and the Trail Making Test (p < 0.01), Raven's progressive matrices (p < 0.01), Stroop (p < 0.05), and emotion attribution tests (p < 0.05) in SCA2. aERPs showed lower N100 amplitude (p < 0.01) and prolonged N200 latency (p < 0.01) in SCA1 compared with SCA2. Clinically, SCA2 had more severe motor disability than SCA1 in the Assessment and Rating of Ataxia Scale. Conclusions: SCA2 showed more significant difficulties in attentional, visuospatial, and emotional function, and greater motor impairment. In contrast, SCA1 showed less cognitive flexibility/phasic ability, probably affected by a more severe degree of dysarthria. The same group revealed less neural activity during nonconscious attentional processing (N100-N200 data), suggesting greater involvement of sensory pathways in discriminating auditory stimuli. NFS did not correlate with NPS findings, implying an independent relationship. However, the specific role of the cerebellum and cerebellar symptoms in NPS test results deserves more focus. [ABSTRACT FROM AUTHOR]

Purpose: The aim of this study was to assess the burden and the quality of life (QoL) perceived by caregivers assisting advanced Parkinson's disease (PD) patients. Patients and Methods: Consecutive advanced PD patients treated with levodopa/carbidopa intestinal gel (LCIG) or continuous subcutaneous apomorphine infusion (CSAI) or care as usual (CU) and their care partners were recruited during routine visits according to a cross-sectional design. Caregiver's distress was assessed by Zarit Burden Interview (ZBI) and a QoL survey to evaluate and understand the burden experienced by care partners during family and working activities. Results: A total of 126 patients (53 LCIG, 19 CSAI and 54 CU) and their care partners were enrolled. The ZBI score boxplot showed that LCIG and CU populations have a similar distribution (ZBI inter-quartile range [IQR] values respectively 18– 42 for LCIG and 19– 43 for CU group), while the CSAI group has a wider score range (IQR 16– 52). Caregivers assisting patients in treatment with LCIG have more time to perform family or household duties (p=0.0022), or to engage in leisure activities (p=0.0073) compared to CU, while no difference was found when compared to CSAI group. Approximately 50% of the care partners showed mood changes in the last 6 months and LCIG and CSAI had less impact on caregiver's mood compared to CU. Patients treated with LCIG were more independent in taking a bath or shower without assistance and were more able to move and walk without assistance. Conclusion: Care partners of advanced PD patients treated with device-aided therapies have more time for their own life and a better perception of their QoL with a tendency to an improvement of mood compared with those of patients treated with CU. [ABSTRACT FROM AUTHOR]

Background: Gait and balance disorders in advanced Parkinson's disease (aPD) heavily impact the disease burden. In this prospective observational open‐label study, our aim was to evaluate the effectiveness of levodopa/carbidopa intestinal gel (LCIG) infusion on balance and gait over a long‐term follow‐up. Methods: The motor status of 15 aPD patients with balance and gait symptoms was assessed with UPDRS (I–IV) and H&Y at baseline in OFF and ON conditions, and after 52 weeks of LCIG infusion. Berg Balance Scale (BBS), Tinetti Gait & Balance Score (TS), Gait and Falls Questionnaire (G&F‐Q), FOG Questionnaire (FOG‐Q), and New FOG Questionnaire (NFOG‐Q) were used to specifically test balance and gait. Results: UPDRS, H&Y, BBS, TS, G&F‐Q, FOG‐Q, NFOG‐Q improved significantly. All FOG types benefited from LCIG. Conclusions: Our preliminary data show the beneficial effect of LCIG therapy not only on FOG, but also on gait and balance. Results need to be confirmed in larger cohort studies. [ABSTRACT FROM AUTHOR]

Background: Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by the abnormal expansion of CAG triplet repeat. We aimed to reappraise HD epidemiology in a northern Italian population, in relation to introduction of genetic testing. Methods: Through ICD-9M code 333.4 and medical fare exemption code RF0080, HD cases were identified from administrative health data and medical records from the Units of Neurology and Genetics, Ferrara University Hospital, and from other provincial neurological structures. Results: HD mean annual incidence rate in 1990-2009 was 0.3 per 100,000 (95% CI 0.2-0.5). All incident cases were found to have symptoms of the disease's classic form, and neither juvenile nor the rigid Westphal variant was detected. The mean (SD) age at onset was 50.2 (12.7 years; range 32-82 years), 54.9 (14.6) for men and 45.8 (9.4) for women. On prevalence day, December 31, 2014, HD prevalence was 4.2 per 100,000 (95% CI 2.4-7.0), with a male:female ratio of 1: 2. Conclusions: The prevalence and incidence of HD in our population were lower than the prevalence and incidence reported for other European and Italian populations, but higher compared to those of Asia, Africa, and Eastern Europe. Compared to previous studies, HD incidence and prevalence did not change significantly. [ABSTRACT FROM AUTHOR]

Purpose: Recent data suggest how adverse events occur more frequently after Implantable Pulse Generator (IPG) replacement than during the deep electrode positioning in patients treated with Deep Brain Stimulation (DBS). For instance, erroneous extension adjustment to change in laterality and inaccurate lead connection represent problems, which strongly affect patients’ outcome. We analyzed our data after 13 years of IPG replacement.Materials and Methods: We treated 107 patients (83 PD and 24 Dystonia) with DBS in 13 years. The Dual Channel IPGs replaced during this period were 91. 25 patients needed more than one replacement, especially among the dystonic population. During surgery, we temporarily marked in all the cases the right extension lead before the disconnection from the exhausted IPG. Good impedances were intraoperatively checked in all the cases.Results: Our surgical technique allowed us to avoid any erroneous change in laterality or abnormal impedances due to a suboptimal connection to the IPG. The mean duration of the operation was 25 min and a quick postoperative restart of DBS was possible in all the cases. Stability of symptoms after IPG replacement was achieved in all the patients, with an accurate clinical management within the first 48–72 postoperative hours.Conclusion: Our surgical and postoperative management demonstrates how to avoid some important adverse events with some easy steps, without any discomfort for the patients in terms of duration of surgery or longer hospitalization. Thus, stability of symptoms after the IPG replacement may be easily guaranteed during the first postoperative period. [ABSTRACT FROM PUBLISHER]

Objectives: To report the results of a national survey aimed at quantifying the current level of diffusion of Levodopa/carbidopa intestinal gel (LCIG) in Italy.Methods: Sixty Parkinson's Disease (PD) specialists in Italy were invited to complete a survey covering issues on clinical and practical aspects of LCIG therapy.Results: Clinical features of 905 patients were collected retrospectively. The majority of centres reported the use of a multidisciplinary team, biochemistry testing, neurophysiological and neuropsychological tests before and after treatment, in addition to caregivers' training and patient's follow as outpatients. Most centres (60%) used internal guidelines for patient selection. The overall rate of adverse events was 55.1%. Weight loss, chronic polyneuropathy and stoma infection were the most frequently reported. 40% of centres used replacement therapy with Vitamin B12 and Folic acid from the start of LCIG and continued this for the duration of treatment. The rate of discontinuation was of 25.7% overall, with 9.5% of cases occurring in the first year. The main causes of withdrawal were device-related complications, disease progression (comorbidity, severe dementia) and caregiver and/or patient dissatisfaction.Conclusions: In Italy LCIG infusion is managed in a uniform manner at a clinical, practical and organizational level even though the selection criteria are not standardized through the country. The high percentage of patients remaining on treatment in the short- and long-term follow-up confirms effectiveness of treatment, careful follow-up, and appropriate patient and caregivers training. [ABSTRACT FROM AUTHOR]

Introduction: The effectiveness and safety of the use of Deep Brain Stimulation (DBS) to reduce motor complications of subjects with Parkinson's disease (PD) has been substantiated by several randomized controlled trials (Deuschl et al., 2006, Weaver et al., 2009, Okun et al., 2012, Scheupbach et al., 2013). Motor improvement following DBS is sustained for up to 10 years as reported by Castrioto et al. An in-depth evaluation of real-world outcomes following DBS will add to the existing database of knowledge and prove to be a useful tool for physicians. We present the outcomes of a large scale clinical registry that compiles the effectiveness and safety-related real-world outcomes of a multiplesource, constant-current DBS System in the treatment of levodoparesponsive PD. Methods: The Vercise DBS Registry is a prospective, onlabel, multi-center, international registry sponsored by Boston Scientific Corporation. The Vercise DBS system (Boston Scientific) is a CE-marked, multiple-source, constant-current system with a rechargeable battery. Subjects will be followed up at 3, 6.12 months and up to 3 years post-implantation where their overall improvement in quality of life and PD motor symptoms will be evaluated. Clinical endpoints will be evaluated at baseline and during study follow up that include Unified Parkinson's Disease Rating Scale (UPDRS), MDS-UPDRS, Parkinson's disease Questionnaire (PDQ-39), and Global Impression of Change. The registry also utilizes the newly developed MDS UPDRS for the evaluation of motor symptoms and includes the evaluation of non-motor symptoms of PD (Non-Motor Symptom Assessment Scale) following DBS. Adverse events are also collected. Results: This report will provide the safety and effectiveness outcomes of the first cohort of subjects implanted with the Vercise DBS System analyzed at 6 months post-implantation as compared with baseline. Discussion: The Vercise DBS registry study represents the first comprehensive, large scale collection of real-world outcomes and evaluation of the safety and effectiveness of the Vercise DBS System. This report will provide such data from the first cohort of subjects analyzed at 6 months post-implantation as compared with baseline. [ABSTRACT FROM AUTHOR]

Background: Family history of Parkinson's disease (PD) is a common finding in PD patients. However, a few studies have systematically examined this aspect., Objectives: We investigated the family history of PD patients, comparing demographic and clinical features between familial PD (fPD) and sporadic PD (sPD)., Methods: A cross-sectional study enrolling 2035 PD patients was conducted in 28 Italian centers. Clinical data and family history up to the third degree of kinship were collected., Results: Family history of PD was determined in 21.9% of patients. fPD patients had earlier age at onset than sporadic patients. No relevant differences in the prevalence of motor and nonmotor symptoms were detected. Family history of mood disorders resulted more prevalently in the fPD group., Conclusions: fPD was found to recur more frequently than previously reported. Family history collection beyond the core family is essential to discover disease clusters and identify novel risk factors for PD., (© 2024 The Author(s). Movement Disorders Clinical Practice published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.)

Background: Effects of dopaminergic medications used to treat Parkinson's disease (PD) may be compared with each other by using conversion factors, calculated as Levodopa equivalent dose (LED). However, current LED proposals on MAO-B inhibitors (iMAO-B) safinamide and rasagiline are still based on empirical approaches., Objectives: To estimate LED of safinamide 50 and 100 mg., Methods: In this multicenter, longitudinal, case-control study, we retrospectively reviewed clinical charts of 500 consecutive PD patients with motor complications and treated with (i) safinamide 100 mg ( N  = 130), safinamide 50 mg ( N  = 144), or rasagiline 1 mg ( N  = 97) for 9 ± 3 months and a control group of patients never treated with any iMAO-B ( N  = 129)., Results: Major baseline features (age, sex, disease duration and stage, severity of motor signs and motor complications) were similar among the groups. Patients on rasagiline had lower UPDRS-II scores and Levodopa dose than control subjects. After a mean follow-up of 8.8-to-10.1 months, patients on Safinamide 50 mg and 100 mg had lower UPDRS-III and OFF-related UPDRS-IV scores than control subjects, who in turn had larger increase in total LED than the three iMAO-B groups. After adjusting for age, disease duration, duration of follow-up, baseline values and taking change in UPDRS-III scores into account (sensitivity analysis), safinamide 100 mg corresponded to 125 mg LED, whereas safinamide 50 mg and rasagiline 1 mg equally corresponded to 100 mg LED., Conclusions: We used a rigorous approach to calculate LED of safinamide 50 and 100 mg. Large prospective pragmatic trials are needed to replicate our findings., (© 2023 The Authors. Movement Disorders Clinical Practice published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.)

Objective: Multiple system atrophy (MSA) may be difficult to distinguish from idiopathic Parkinson's disease (PD). Our aim was to evaluate the accuracy of the arginine growth hormone (GH) stimulation test in distinguishing between MSA and PD in large populations of patients., Methods: We measured the GH response to arginine in 69 MSA (43 MSAp [parkinsonism as the main motor feature] and 26 MSAc [cerebellar features predominated]) patients, 35 PD patients, and 90 healthy control subjects. We used receiver-operating curve analysis to establish the arginine cutoff value that best differentiated between MSA and PD., Results: The GH response to arginine was significantly lower (p < 0.01) in MSA than in either PD patients or control subjects. At a cutoff level of 4 microg/L, arginine distinguished MSAp from PD with a sensitivity and specificity of 91% and MSAc from PD with a sensitivity of 96% and specificity of 91%. The arginine test had a positive predictive value for MSA of 95%. The GH response to arginine was not affected by disease duration or severity, MSA motor subtype, pyramidal signs, response to dopaminergic therapy, or magnetic resonance imaging findings., Interpretation: The GH response to arginine differentiates MSA from PD with a high diagnostic accuracy. The results suggest an impairment of cholinergic central systems modulating GH release in MSA.