Movement Disorders Clinical Practice最新文献

Background: KCNMA1-linked channelopathy is characterized by neurodevelopmental disorder, epileptic seizures and non-epileptic paroxysmal episodes.

Objectives: To describe the phenotype of paroxysmal non-epileptic episodes related to KCNMA1 pathogenic variants.

Methods: Videos of paroxysmal episodes were reviewed according to a standardized protocol by a group of movement disorders experts.

Results: Fourteen videos were reviewed (6 previously published patients and a new patient). The typical pattern of an episode was (i) facial changes including dyskinetic movements of tongue and jaws (ii) behavioral arrest (iii) loss of postural reflexes that could be associated with focal body stiffness, eventually leading to fall (iv) rapid recovery without post-ictal drowsiness. Attacks were brief, with a high daily frequency, occasionally triggered by emotion, and dramatically improved by psychostimulant therapy in three patients.

Conclusions: KCNMA1-related attacks are clearly distinguishable from paroxysmal dyskinesia, cataplexy or episodic ataxia indicating a unique phenomenological entity whose recognition will enhance accurate diagnosis and treatment.

Background: The shift toward virtualized care introduces challenges in assessing the motor severity of Parkinson's disease (PD). The Movement Disorder Society Unified Parkinson's Disease Rating Scale (MDS-UPDRS) part III, the most used rating scale in PD, lacks validation for synchronous remote administration.

Objective: Our goal was to validate the usability of a patient guide to allow an accurate video-based MDS-UDPRS part III remote examination.

Methods: We conducted a multi-stage mixed methods study that included a team consensus for the concept of the guide, cognitive pretesting, and usability (system usability scale, [SUS]) testing in five sites (total n = 25 participants) with distinct linguistic and cultural contexts.

Results: A multi-language (English, Portuguese, Spanish, and traditional Chinese) largely pictograph guide of the MDS-UPDRS part III remote examination reached benchmark for usability (SUS score ≥68) in 25 participants who completed the synchronous remote assessment.

Conclusions: The MDS-UDPRS part III remote examination guide can be used remotely accurately, and facilitate clinical practice and research in a paradigm of telemedicine.

Background: Currently, the conclusions of studies on subthalamic nucleus (STN) deep brain stimulation (DBS) for improving Parkinson's disease (PD) with depression are inconsistent, and the reasons for improvement or deterioration remain unclear.

Methods: The aim was to investigate the prognosis of PD with depression after bilateral STN-DBS and the factors related to the improvement in depression. The local and network effects of DBS on depression in PD (DPD) were further explored based on the volume of tissue activation (VTA). The study analyzed 80 primary PD patients who had undergone bilateral STN-DBS, comprising 47 patients with improved depression and 33 patients without improvement. Two groups of clinical profiles and stimulation parameters were compared, and the network models for improving depression were constructed.

Results: The improvement in depression was closely associated with improvement in anxiety (odd rate [OR] = 1.067, P = 0.006) and the standardized space left y-coordinate (OR = 0.253, P = 0.005). The VTA overlapping with the left motor STN subregion is most significantly associated with improvement in depression (R_Spearman = 0.53, P < 0.001; R_Pearson = 0.43, P < 0.001). The y-coordinates in the improvement group were closer to the optimal stimulation site for improving motor symptoms. Finally, both the structural and functional network models indicate a positive correlation between depression improvement and the connectivity of the sensorimotor cortex.

Conclusion: The amelioration of DPD is primarily attributed to the stimulation of bilateral motor STN, particularly on the left. However, this stimulatory effect manifests as an indirect influence.