Introduction: Treatment optimization using continuous subcutaneous apomorphine infusion (CSAI) improves the control of motor fluctuations of patients with Parkinson's disease (PD). Although CSAI seems to be cognitively and behaviorally safe and to improve the quality of life, very few studies have investigated its influence in these domains, especially in patients without cognitive impairment. Methods: We estimated the impact of CSAI on motor symptoms, cognition, psychiatric domains and quality of life in parkinsonian patients without cognitive impairment by comparing the scores of 22 patients assessed before and 6 months after the start of add-on CSAI. Results: Optimized treatment with CSAI was associated with i) reduced motor fluctuations, ii) unchanged cognition, iii) unchanged psychiatric domains, and iv) improved quality of life in physical and psychological aspects. Conclusion: In PD patients without cognitive impairment, CSAI improves motor symptoms and quality of life and, as suggested by previous studies, alters neither cognition nor mental health.

OBJECTIVES:To test for cerebellar involvement in motor and nonmotor impairments in Parkinson’s disease (PD), and to determine patterns of metabolic correlations with supratentorial brain structures, we correlated clinical motor, cognitive and psychiatric scales with cerebellar metabolism.METHODS:We included 90 patients with PD. Motor, cognitive and psychiatric domains were assessed, and resting-state 18FDG-PET metabolic imaging was performed. The motor, cognitive and psychiatric scores were entered separately in a principal component analysis. We looked for correlations between these three principal components and cerebellar metabolism. Furthermore, we extracted the mean glucose metabolism value for each significant cerebellar cluster and looked for patterns of cerebrum-cerebellum metabolic correlations.RESULTS:Severity of impairment was correlated with increased metabolism in the anterior lobes and vermis (motor domain), and the right Crus I, Crus II, and declive (cognitive domain), and the right Crus I and Crus II (psychiatric domain). There were no results surviving multiple testing corrections regarding the psychiatric domain. Moreover, we found distributed and overlapping - but not identical- patterns of metabolic correlations for motor and cognitive domains. Specific supratentorial structures (cortical structures, basal ganglia, and thalamus) were strongly correlated with each of the cerebellar clusters.CONCLUSIONS:These results confirm the role of the cerebellum in nonmotor domains of Parkinson’s disease, with differential but overlapping patterns of metabolic correlations suggesting the involvement of cerebello-thalamo-striatal-cortical loops.

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Background Facioscapulohumeral muscular dystrophy (FSHD) is among the most prevalent muscular dystrophies and currently has no treatment. Clinical and genetic heterogeneity are the main challenges to a full comprehension of the physiopathological mechanism. Improving our knowledge of FSHD is crucial to the development of future therapeutic trials and standards of care. National FSHD registries have been set up to this end. The French National Registry of FSHD combines a clinical evaluation form (CEF) and a self-report questionnaire (SRQ), filled out by a physician with expertise in neuromuscular dystrophies and by the patient, respectively. Aside from favoring recruitment, our strategy was devised to improve data quality. Indeed, the pairwise comparison of data from 281 patients for 39 items allowed for evaluating data accuracy. Kappa or intra-class coefficient (ICC) values were calculated to determine the correlation between answers provided in both the CEF and SRQ. Results Patients and physicians agreed on a majority of questions common to the SRQ and CEF (24 out of 39). Demographic, diagnosis- and care-related questions were generally answered consistently by the patient and the medical practitioner (kappa or ICC values of most items in these groups were greater than 0.8). Muscle function-related items, i.e. FSHD-specific signs, showed an overall medium to poor correlation between data provided in the two forms; the distribution of agreements in this section was markedly spread out and ranged from poor to good. In particular, there was very little agreement regarding the assessment of facial motricity and the presence of a winged scapula. However, patients and physicians agreed very well on the Vignos and Brooke scores. The report of symptoms not specific to FSHD showed general poor consistency. Conclusions Patient and physician answers are largely concordant when addressing quantitative and objective items. Consequently, we updated collection forms by relying more on patient-reported data where appropriate. We hope the revised forms will reduce data collection time while ensuring the same quality standard. With the advent of artificial intelligence and automated decision-making, high-quality and reliable data are critical to develop top-performing algorithms to improve diagnosis, care, and evaluate the efficiency of upcoming treatments.

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