Movement Disorders Clinical Practice最新文献

Objective: To honor the bicentenary of Jean-Martin Charcot's birth and to consolidate the primary materials from a historical exhibit on the topic at the 2025 International Parkinson and Movement Disorder Congress, this article aims to provide an overview of Charcot's place in the context of 21st century movement disorders neurology.

Background: Charcot (1825-1893) is largely considered the Father of Clinical Neurology, having established the basic discipline of anatomo-clinical correlations in brain and spinal cord disease. His contributions to movement disorders neurology were seminal and remain as anchors of 21st century neurological study.

Methods: Original and secondary sources from international archives and collections served as the material for study and interpretation.

Results: Charcot fundamentally contributed to the clinical descriptions of Parkinson's disease, other parkinsonian syndromes, tremor conditions, tic disorders and chorea. Whereas he performed extensive neuroanatomical studies, he classified most movement disorders as névroses, conditions with undetected structural lesions yet to be defined.

Conclusions: Charcot developed a clear classification system for movement disorders that largely remains intact today. He developed a French School of Neurology of both historical and modern fame, and, in introducing the model of an academic clinical hospital research center as multidimensional integration of clinical care, research, and education, he left a legacy that remains the model of the 21st century neurological research center.

Background: The Huntington's Disease Behavioral Questionnaire (HD-BQ) captures behavioral symptoms arising from cognitive, psychiatric, and functional domains. Recognizing the high prevalence of anosognosia in HD, the HD-BQ incorporates patient- and companion-reported versions.

Objective: Examine the utility of the HD-BQ in capturing behavioral symptoms in HD.

Methods: The HD-BQ was administered to 71 manifest HD patients and their companions, plus 71 healthy controls (HC). Differences in HD-BQ scores were examined using Mann-Whitney U and Wilcoxon signed-ranks tests.

Results: HD patients reported more severe behavioral symptoms than HC (p < 0.001). Companions reported more widespread and severe symptoms than patients (Z = -3.7, p < 0.001). The largest discrepancies were observed for cognitive items-difficulty shifting thoughts or activities (p < 0.001), concentrating (p = 0.002), keeping track of commitments (p = 0.006), judgment (p = 0.004), and indecisiveness (p = 0.022).

Conclusions: The HD-BQ captures a wide range of behavioral disturbances in HD. Companions consistently reported more frequent and severe symptoms than patients, likely reflecting patients' anosognosia.

Background: Dopaminergic neuron loss in the substantia nigra, particularly the nigrosomes, characterizes Parkinson's disease (PD). Nigrosome-1 absence on MRI has emerged as a potential PD biomarker.

Objectives: Assess the diagnostic accuracy of nigrosome-1 detection for differentiating PD from essential tremor (ET) in clinical practice.

Methods: Movement disorder neurologists without nigrosome evaluation experience, randomized into receiving or not training, assessed 3 Tesla MRIs from PD and ET patients. PD was defined by absence of at least one nigrosome. Diagnostic accuracy measures and inter-rater agreement were calculated.

Results: Seventy-two MRIs were included (43 PD, 29 ET). Mean sensitivity, specificity, and accuracy were 78.2% (95% confidence interval: 71.2-85.3), 56.7% (50.0-64.0), 69.5% (65.3-73.9), without significant differences between groups. Specificity (P = 0.002) and accuracy (P = 0.029) increased with rating experience.

Conclusions: Nigrosome assessment in routine MRI by inexperienced raters showed limited diagnostic performance, yet may improve with optimized protocols and continued practice.

Background: Parkinson's disease (PD) is increasingly recognized as a neurodegenerative disorder with a broad clinical spectrum and diverse biomarkers enabling early detection. α-synuclein seed amplification assays (SAA) and genetic testing now allow identification of PD pathology in asymptomatic individuals. As preventive strategies remain unavailable, it is important to understand at-risk individuals' attitudes toward disclosure of genetic and biomarker information.

Objectives: To examine awareness, emotional responses, and behavioral intentions among first-degree relatives of PD patients who underwent genetic testing and counseling.

Methods: A cross-sectional questionnaire was administered to first-degree relatives tested and counseled at Tel Aviv Sourasky Medical Center. The survey assessed recall of testing and results, adequacy of information, emotional reactions, willingness to undergo biological testing (blood vs. lumbar puncture), and readiness to modify lifestyle following positive biomarker results.

Results: Among 240 non-manifesting relatives (NMNC = 145; LRRK2 = 40; GBA1 = 49; dual = 6; 72% response), the mean interval from testing to survey was 5.3 ± 2.4 years. Despite prior counseling, only 70.3% recalled being tested and 66.5% remembered results. About half felt adequately informed about PD (50.9%) and their genetic status (53.7%). Willingness for blood testing was high (86.6%) but lower for lumbar puncture (41.5%). Mutation carriers reported greater distress, while 87.6% indicated readiness to adopt lifestyle changes if results were positive.

Conclusions: First-degree relatives favored minimally invasive testing and showed strong motivation for lifestyle adaptation. Limited recall of results highlights the need for improved communication and ongoing counseling in preventive neurology.

Background: Deep brain stimulation of the internal globus-pallidus (GPi-DBS) improves focal dystonia, often incompletely. GPi-DBS modulates pallido-thalamo-cortical pathways; however, involvement of descending pathways, including the mesencephalic locomotor region (MLR), has been proposed.

Objectives: To investigate structural connectivity for predicting outcomes.

Methods: We retrospectively analyzed 21 focal dystonia patients with GPi-DBS. Dystonia was assessed pre- and postoperatively. Contacts were localized, volumes of tissue activated (VTA) modeled, and structural connectivity quantified using probabilistic tractography and each patient's VTA to filter a normative connectome from two healthy cohorts.

Results: GPi-DBS induced mean improvement of 48.2% (SD 37.4%) in TWSTRS (p = 0.0003) and 26.7% (SD 63.4%) in BFMDRS (p = 0.068) in cervical dystonia patients. The sweet-spot was within sensorimotor GPi. For the 15 cervical dystonia patients, VTA-MLR connectivity positively correlated with TWSTRS improvement (p = 0.048), with no significant VTA-thalamic connectivity association (p > 0.30).

Conclusions: Cervical dystonia improvement depends on the GPi-MLR pathway, supporting tractography to optimize DBS efficacy.