Hot water epilepsy and Mccune–Albright syndrome: A case report

AbstractWe observed a 15-year-old Caucasian boy with a rare form of reflex epilepsy, known as hot water epilepsy (HWE), associated to McCune–Albright syndrome (MAS). This is a rare disease due to post-zygotic and somatic mutations of the Gs-alpha gene, that results in cellular mosaicism. Predominant features of MAS occur in the bony skeleton, the skin, the endocrine system, and, in atypical presentations, in other non-endocrine tissues. It is unknown whether or not an expression of the GNAS1 product in the brain does exist. Although the association of MAS with HWE in our patient may be merely casual, it brings up the possibility that the striking phenotypic variability of MAS might also include epilepsy

Clinical Aspects and Management of Levodopa-Induced Dyskinesia

In Parkinson's disease, one of the most troublesome dilemmas is the treatment of levodopa-induced dyskinesia. After a few years, chronic treatment with levodopa is associated with the development of dyskinesias. Strategies to delay or to reduce dyskinesias are based on the change of levodopa dosing or the early use of dopamine agonists. Dopamine agonists with different pharmacological profile are available. Our paper was aimed to analyse the clinical impact and the management of dyskinesias with dopamine agonists

Effects of Levodopa-Carbidopa Intestinal Gel Compared with Optimized Medical Treatment on Nonmotor Symptoms in Advanced Parkinson’s Disease: INSIGHTS Study

Background. Nonmotor symptoms (NMS) are common in advanced Parkinson's disease (APD) and reduce health-related quality of life. Objective. The aim of the study was to evaluate levodopa-carbidopa intestinal gel (LCIG) versus optimized medical treatment (OMT) on NMS in APD. Methods. INSIGHTS was a phase 3b, open-label, randomized, multicenter study in patients with APD (LCIG or OMT, 26 weeks) (NCT02549092). Primary outcomes assessed were total NMS (NMS scale (NMSS) and PD sleep scale (PDSS-2)). Key secondary outcomes included the Unified PD Rating Scale (UPDRS) Part II, Clinical Global Impression of Change (CGI-C), and PD Questionnaire-8 (PDQ-8). Additional secondary measures of Patient Global Impression of Change (PGIC), King's PD Pain Scale (KPPS), and Parkinson Anxiety Scale (PAS) also were evaluated. Finally, safety was assessed. Results. Out of 89 patients randomized, 87 were included in the analysis (LCIG, n = 43; OMT, n = 44). There were no significant differences in NMSS or PDSS-2 total score changes (baseline to Week 26) between LCIG and OMT; within-group changes were significant for NMSS (LCIG, p < 0.001; OMT, p=0.005) and PDSS-2 (LCIG, p < 0.001; OMT, p < 0.001). Between-group treatment differences were nominally significant for UPDRS Part II (p=0.006) and CGI-C (p < 0.001) at Week 26 in favor of LCIG; however, statistical significance could not be claimed in light of primary efficacy outcomes. PGIC (Week 26) and KPPS (Week 12) scores were nominally significantly reduced with LCIG versus OMT (p < 0.001; p < 0.05). There were no significant differences in PDQ-8 or PAS. Adverse events (AEs) were mostly mild to moderate; common serious AEs were pneumoperitoneum (n = 2) and stoma-site infection (n = 2) (LCIG). Conclusions. There were no significant differences between LCIG versus OMT in NMSS or PDSS-2; both LCIG and OMT groups significantly improved from baseline. AEs were consistent with the known safety profile

Caregiver burden and its related factors in advanced Parkinson&#8217;s disease: data from the PREDICT study

Introduction: Caring for a person with Parkinson’s disease (PD) is associated with an increased risk of psychiatric morbidity and persistent distress. The objective of this study was to describe the burden and the related factors of caregivers of advanced PD (APD) patients either treated with continuous dopaminergic delivery systems or standard therapy. Methods: This cross-sectional, epidemiologic study conducted in 13 Italian sites enrolled PD patients treated with continuous dopaminergic delivering systems [either levodopa/carbidopa intestinal gel (LCIG) infusion or continuous subcutaneous apomorphine infusion (CSAI)] or continuation of standard of care (SOC) with a caregiver. Patient quality of life (QoL) and caregiver burden were assessed using the Parkinson’s Disease Questionnaire (PDQ-8) and Zarit Burden Inventory (ZBI), respectively. Results: 126 patients (mean age 69.3 ± 8 years) and their caregivers (mean age 57.9 ± 12.9) were enrolled. Most caregivers were spouses. Fifty-three patients were treated with LCIG, 19 with CSAI, and 54 with SOC. Mean ZBI scores were 29.6 ± 14.4 for LCIG, 35.8 ± 20.2 for CSAI, and 31.4 ± 16.0 for SOC. Caregivers of LCIG, CSAI, and SOC patients showed no burden or mild/moderate burden in 74, 53, and 63% of the cases, respectively. Mean PDQ-8 scores were 11.25 ± 5.67, 11.26 ± 5.55, and 14.22 ± 6.51 in LCIG, CSAI, and SOC patients. Neurologists considered patients “very much or much improved” in 89, 58, and 13% of the LCIG, CSAI, and SOC groups using the Clinical Global Impression–Global Improvement Scale. Predictors significantly associated with caregiver burden were patients and caregivers’ judgment of QoL and caregivers’ need to change work. Conclusions: Caregiver burden showed a tendency to be lower when patients are treated with LCIG than with CSAI or SOC

Botulinum Toxin for the Treatment of Hemifacial Spasm: An Update on Clinical Studies

Hemifacial spasm (HFS) is a movement disorder characterized by involuntary contractions of the facial muscles innervated by the seventh cranial nerve. Generally, it is associated with a poor quality of life due to social embarrassment and can lead to functional blindness. Moreover, it is a chronic condition, and spontaneous recovery is rare. Intramuscular injections of Botulinum Toxin (BoNT) are routinely used as HFS treatment. Methods: We reviewed published articles between 1991 and 2021 regarding the effectiveness and safety of BoNT in HFS as well as any reported differences among BoNT formulations. Results: The efficacy of BoNT for HFS treatment ranged from 73% to 98.4%. The mean duration of the effect was around 12 weeks. Effectiveness did not decrease over time. Adverse effects were usually mild and transient. The efficacy and tolerability of the different preparations appeared to be similar. Among the studies, dosage, injected muscles, intervals of treatment, and rating scales were variable, thus leading to challenges in comparing the results. Conclusions: BoNT was the treatment of choice for HFS due to its efficacy and safety profile. Further studies are needed to investigate the factors that influence the outcome, including the optimal timing of treatment, injection techniques, dosage, and the best selection criteria for formulations

Feasibility of mirabegron in the treatment of overactive bladder in patients affected by Parkinson's disease: a pilot study

Background: We investigated the effectiveness and safety of mirabegron oral treatment in a group of patients with Parkinson’s disease (PD) and overactive bladder (OAB), refractory to antimuscarinics. Materials and methods: Thirty patients with PD and refractory OAB were prospectively included in the study. At baseline, motor symptoms, severity of disease and cognitive status were assessed with the Hoehn–Yahr Scale, the Unified Parkinson’s disease Rating Scale, the Mini Mental State examination and the Montreal Cognitive Assessment. At baseline, urinary symptoms, satisfaction with treatment and the impact of urinary incontinence on quality of life (QoL) were assessed with the 3-day voiding diary, the Visual Analogue Scale (VAS), the Incontinence–QoL questionnaire and urodynamics. Patients started assuming mirabegron 50 mg tablets once daily. Evaluation of urinary symptoms and related questionnaires, motor symptoms, severity of PD and uroflowmetry with postvoid residual volume measurement were then repeated at the 3- and 6-month follow up. Side effects were also noted. Results: At baseline, the most frequently reported urinary symptoms were: urinary urgency (present in all the patients), urge urinary incontinence in 28/30 (93.3%) and increased daytime urinary frequency in 25 (83.3%) patients. At the 3-month follow up, 7 out of the 30 patients achieved a complete urinary continence. Significant improvements in VAS and Incontinence–QoL scores were observed in 24 patients. These benefits were maintained for the whole observation period. Four patients discontinued treatment due to poor efficacy, and two due to the cost of the drug. Conclusions: Mirabegron is a safe and effective treatment in patients with PD and OAB refractory to anticholinergics in the short-term follow up. © The Author(s), 2019