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Background: The MDS-UPDRS has been available in English since 2008, showing satisfactory clinimetric results and being proposed as the new official benchmark scale for Parkinson's disease (PD), being cited as a core instrument for PD in the National Institutes of Neurological Disorders and Stroke Common Data Elements program. For this reason, the MDS created guidelines for development of MDS-UPDRS official, clinimetrically validated translations., Objective: This study presents the formal process used to obtain the officially approved Portuguese version of the MDS-UPDRS., Methods: The study consisted of three phases: (1) Independent translation by Portuguese and Brazilian teams followed by a challenging consensus process that this article particularly emphasizes; (2) Cognitive pretest involving raters and patients from both Portugal and Brazil; (3) Validation test with a sample of 367 native Portuguese-speaking PD patients., Results: The overall factor structure of the Portuguese version was consistent with the English version based on a comparative fit index ≥0.96 for all four parts of the MDS-UPDRS., Conclusion: This version can be designated as the official Portuguese version of the MDS-UPDRS., (© 2024 International Parkinson and Movement Disorder Society.)

Background: Handicap is a patient-centered measure of health status that encompasses the impact of social and physical environment on daily living, having been assessed in advanced and late-stage Parkinson's Disease (PD)., Objective: To characterize the handicap of a broader sample of patients., Methods: A cross-sectional study of 405 PD patients during the MDS-UPDRS Portuguese validation study, using the MDS-UPDRS, Unified Dyskinesias Rating Scale, Nonmotor symptoms questionnaire, PDQ-8 and EQ-5D-3L. Handicap was measured using the London Handicap Scale (LHS)., Results: Mean age was 64.42 (±10.3) years, mean disease duration 11.30 (±6.5) years and median HY 2 (IQR, 2-3). Mean LHS was 0.652 (±0.204); "Mobility," "Occupation" and "Physical Independence" were the most affected domains. LHS was significantly worse in patients with longer disease duration, older age and increased disability. In contrast, PDQ-8 did not differentiate age groups. Handicap was significantly correlated with disease duration ( r  = -0.35), nonmotor experiences of daily living (EDL) (MDS-UPDRS-I) ( r  = -0.51), motor EDL (MDS-UPDRS-II) ( r  = -0.69), motor disability (MDS-UPDRS-III) ( r  = -0.49), axial signs of MDS-UPDRS-III ( r  = -0.55), HY ( r  = -0.44), presence of nonmotor symptoms ( r  = -0.51) and PDQ-8 index ( r  = -0.64) (all P  < 0.05). Motor EDL, MDS-UPDRS-III and PDQ-8 independently predicted Handicap (adjusted R 2  = 0.582; P  = 0.007)., Conclusions: The LHS was easily completed by patients and caregivers. Patients were mild-moderately handicapped, which was strongly determined by motor disability and its impact on EDL, and poor QoL. Despite correlated, handicap and QoL seem to differ in what they measure, and handicap may have an added value to QoL. Handicap seems to be a good measure of perceived-health status in a broad sample of PD., (© 2023 International Parkinson and Movement Disorder Society.)

Competing Interests: The authors declare that there are no conflicts of interest relevant to this work. The authors declare that there are no funding sources or conflicts of interest relevant to this work.

Purpose: Heart rate variability, a marker of autonomic function modulation, is known to be blunted in Parkinson disease, although data remains conflicting and a putative modifying role of REM sleep behavior disorder persists unclarified., Methods: We assessed ten patients with idiopathic REM sleep behavior disorder patients, 18 patients with Parkinson disease and REM behavior disorder and eight patients with Parkinson disease without REM sleep behavior disorder. Heart rate variability analysis was performed in 5-min epochs selected from wake, Non-REM and REM polysomnography records. We compared heart rate variability measures by stage between two sets of groups: Parkinson disease vs. idiopathic RBD and patients with vs. without RBD, by using repeated measures ANOVA., Results: There were no heart rate variability differences between Parkinson disease and idiopathic REM sleep behavior disorder groups. There were significant stage vs. group interactions (p = 0.045) regarding the high frequencies components when comparing patients with and without REM sleep behavior disorder, with the former presenting lower values and attenuation of sleep stage variations., Conclusion: Our study suggests that RBD is related with reduction in parasympathetic modulation of heart rate variability and blunting of sleep stage related variations.

We used video-polysomnography to characterize motor events (ME) in 14 Parkinson's disease (PD-RBD) and 18 idiopathic (iRBD) REM sleep behavior disorder cases. ME occurred predominantly in the upper limbs and were mostly simple, non-emotional, distal and focal. There were no significant differences in ME features between PD-RBD and iRBD groups. Our data suggests that RBD ME are mostly non violent. Similarity between PD-RBD and iRBD groups suggests that motor dysfunction does not affect ME features.

Advancing age is a well-known risk factor for Parkinson's disease (PD). With population ageing it is expected that the total number of patients with PD onset at oldage increases. Information on the motor but particularly on non-motor phenotype of this late-onset population is lacking. We recruited 24 patients with PD onset at or over 75 years. Each patient was matched with 1 control patient with PD onset between the ages of 40 and 65 and matched for disease duration. Both groups were assessed with the UPDRS, the Non-motor symptoms scale (NMSS) and other scales to assess non-motor symptoms. Groups were compared with conditional logistic regression analysis. Old-age onset PD was, on average, 80 years at the time of PD onset while middle-age onset were 59. Disease duration was approximately 5 years in both groups. While no difference was observed in the total UPDRS-III scores, old-age onset PD was associated with higher axial symptoms (7.42 vs. 4.63, p = 0.011) and a higher frequency of dementia (7/24 vs. 0/24, p = 0.009). While no difference in the total number of non-motor symptoms was observed (6.79 vs. 6.22, p = 0.310), old-age onset patients had a higher prevalence of gastrointestinal symptoms (20/24 vs. 12/24, p = 0.037). For the same disease duration, older age onset is associated with worse axial motor dysfunction and dementia in PD patients. Beside gastrointestinal symptoms, non-motor symptoms are not associated with age.

Background: Tetrabenazine (TBZ) is commonly used in hyperkinetic movement disorders. In this retrospective study, we aimed to assess the TBZ effectiveness and adverse events (AEs) in Huntington disease (HD), vascular chorea, tics, dystonia, tardive oromandibular (OM) dyskinesia and other tardive syndromes (TS)., Methods: Qualitative analysis of clinical response was used to estimate TBZ effectiveness. TBZ-associated AE frequency and subsequent discontinuation rate were used to estimate tolerability; the tolerability profile was measured through the TBZ minimal dose and exposure time required to elicit AEs., Results: Of 108 included patients, 87% had a clinically meaningful improvement sustained over a period of 40 months. TBZ-responder rate ranged from 100% in HD to 62.5% and 77.1% in tic disorders and OM dyskinesia, respectively ( p < 0.001). TBZ-associated AE frequency ranged from 40.9% in other TS and 41.7% in vascular chorea and HD, to 60% in OM dyskinesia ( p < 0.001). The most common AEs were Parkinsonism (51.8%) and psychiatric disorders (25%). The 'other AEs' category (mainly somnolence) presented the shortest minimal exposure time (3 months). AE-eliciting dose differed from 18.8 mg and 25 mg in tics and tardive disorders, to 75 mg in HD ( p = 0.003). Patients with AEs were tendentiously older at TBZ initiation ( p = 0.022)., Conclusions: TBZ proved an effective and relatively well tolerated treatment in hyperkinetic disorders, with excellent results in HD. AEs were more common in OM dyskinesia, which may be related to higher age at TBZ initiation. TBZ-associated somnolence and Parkinsonism were more frequent during the titration and maintenance periods, respectively., Competing Interests: Conflict of interest statement: The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

The prevalence of non-motor symptoms (NMS) in Parkinson's Disease (PD) has varied between studies. Their interrelation isn't totally understood. Also, the relative importance of each symptom, regarding its impact on activities of daily living (ADL) and health related quality of life (HRQL), remains debatable. We assessed all PD patients attending a Portuguese tertiary movement disorders center during one year (n = 134), with ADL, HRQL and other clinical scales approved for identifying the most relevant NMS in PD. All patients had at least one NMS. Sleep/fatigue, affect/cognition, attention/memory were the most frequent complaints, and their prevalence, above 80%, was higher than in most studies. There were significantly correlations between: sleepiness, psychosis and cognition; gastrointestinal, cardiovascular symptoms and pain; depression and apathy; anxiety and insomnia; olfaction, weight and hyperhidrosis. Depression/apathy exerted the strongest influence on HRQL and non-tremor motor dysfunction on ADL. Compared to studies in other countries, we found a higher prevalence of NMS, which could be specific of this population. The interrelation between NMS could be related to degeneration of different brain structures. NMS exert a stronger influence than MS in HRQL, which should be taken in account regarding treatment options.

The syndrome of deafness-dystonia is rare and refers to the association of hearing impairment and dystonia when these are dominant features of a disease. Known genetic causes include Mohr-Tranebjaerg syndrome, Woodhouse-Sakati syndrome, and mitochondrial disorders, but the cause frequently remains unidentified. The aim of the current study was to better characterize etiological and clinical aspects of deafness-dystonia syndrome. We evaluated 20 patients with deafness-dystonia syndrome who were seen during the period between 1994 and 2011. The cause was identified in only 7 patients and included methylmalonic aciduria, meningoencephalitis, perinatal hypoxic-ischemic injury, large genomic deletion on chromosome 7q21, translocase of inner mitochondrial membrane 8 homolog A (TIMM8A) mutation (Mohr-Tranebjaerg syndrome), and chromosome 2 open reading frame 37 (C2orf37) mutation (Woodhouse-Sakati syndrome). The age of onset and clinical characteristics in these patients varied, depending on the etiology. In 13 patients, the cause remained unexplained despite extensive work-up. In the group of patients who had unknown etiology, a family history for deafness and/or dystonia was present the majority of patients, suggesting a strong genetic component. Sensory-neural deafness always preceded dystonia. Two clinical patterns of deafness-dystonia syndrome were observed: patients who had an onset in childhood had generalized dystonia (10 of 13 patients) with frequent bulbar involvement, whereas patients who had a dystonia onset in adulthood had segmental dystonia (3 of 13 patients) with the invariable presence of laryngeal dystonia. Deafness-dystonia syndrome is etiologically and clinically heterogeneous, and most patients have an unknown cause. The different age at onset and variable family history suggest a heterogeneous genetic background, possibly including currently unidentified genetic conditions., (Copyright © 2013 Movement Disorder Society.)