Movement Disorders Clinical Practice最新文献

Background: Parkinsonian tremor usually starts asymmetrically. The mid-term prognosis of this lateralized tremor is unknown, as is the development of tremor in the contralateral arm.

Objective: To investigate the occurrence of contralateral tremor in the Parkinson's Progression Marker Initiative database, with data available for 7 years.

Methods: Tremor requiring treatment (TRT) was defined as any rest, postural or kinetic tremor with amplitude >1 cm (MDS-UPDRS score ≥2) as this criterion is commonly accepted as an insufficiently treated tremor. Tremor was analyzed by side mainly in the off-medication state.

Results: At baseline, 348 (87.7%) of the 397 patients with Parkinson's disease had tremor at least on one side of the body. 183 (46%) had only mild tremors but 165 (41.6%) had TRT. 159 patients (40.1%) had lateralized TRT and six (1.6%) had bilateral TRT. Among patients with asymmetrical TRT, 40 patients (25.2%) developed contralateral TRT at 3 years, 49 patients (30.8%) at 5 years, and 61 patients (38.4%) at 7 years. The side more affected by tremor was also more affected by other cardinal signs. In 159 patients with initially asymmetrical TRT, tremor severity did not increase on the more tremulous side over the 7-year period. However, there was an increase in tremor on the contralateral side. This was associated with a clear increase in bradykinesia and rigidity on both sides.

Conclusion: The study findings may prove beneficial in counseling patients with TRT, and may also provide an explanation as to why the worsening of tremor is not correlated with overall disease progression.

Background: Anticholinergic medications and botulinum neurotoxin injections are established treatments for dystonia, yet they carry potential side effects and practical challenges. Deep brain stimulation (DBS) is offered in case of poor response to these approaches.

Objectives: To assess the need for anticholinergic medications and botulinum neurotoxin injections in adult and pediatric patients at two specialized Canadian centers before and after DBS over the past 10 years.

Methods: 58 patients were included analyzing data before, 6 and 12 months after DBS. Clinical assessment included the Toronto Western Spasmodic Torticollis Rating Scale and Fahn-Marsden Dystonia Rating Scale. Anticholinergic burden was determined by the Anticholinergic Drug Scale (ADS).

Results: Severity of cervical dystonia and ADS scores reduction were statistically significant after DBS. Anticholinergic medication and Botulinum Neurotoxin injections were discontinued a year after surgery in 28.8% and 72.4% of the patients, respectively.

Conclusion: Simplification of anti-dystonia treatments is another added benefit of DBS.

Background: Functional neurological disorders (FND) can include various sensory, motor or cognitive symptoms. Eye movement recordings, measured through video-oculography, could serve as biomarkers for characterizing these dysfunctions in FND.

Objective: To identify oculomotor patterns that may help to support a positive diagnosis of FND.

Methods: We conducted a retrospective analysis of video-oculography recordings performed between 2011 and 2023 in 149 patients with FND, focusing on horizontal and vertical prosaccades, smooth pursuit, and antisaccades. These data were compared with those obtained from 132 age and gender-matched healthy volunteers and 43 patients diagnosed with multiple sclerosis (MS).

Results: FND patients exhibited significantly increased mean saccade latencies in both horizontal and vertical prosaccade tasks compared to controls (t-test, P < 0.0001). Additionally, variability in horizontal and upward saccade latency was substantially greater in the FND group than in the control and MS groups (P < 0.0001). Vertical saccades in FND patients were hypometric (P < 0.0001) with increased variability of upward saccade amplitude (P < 0.0001). Both MS and FND patients had higher antisaccade error rates than controls (P < 0.0001).

Conclusion: These findings suggest that video oculography may be useful in understanding the pathophysiology of FND and highlight its potential as a complementary tool to support diagnostic reasoning in complex clinical presentations.

Background: Tremor is a common feature of multiple neurological conditions, and while medications can be effective in mild cases, surgical interventions are often required in moderate-severe syndromes or when medication side-effects are unacceptable. Over decades, the field of functional neurosurgery has evolved from traditional radiofrequency ablation to deep brain stimulation, and more recently, to incisionless high frequency ultrasonic lesional techniques. All these modalities remain valuable tools for the clinicians and can be used to treat a variety of stereotactic targets with several targeting methods. This evolution has broadened access to surgical treatments for individuals with tremor and has provided both clinicians and patients with a wider range of therapeutic options. Consequently, selecting the most appropriate surgical treatment for an individual has arguably become more complex, relying on a combination of evidence base, personal, medical, social, and economic factors.

Objective: In view of the evolving landscape of functional neurosurgery in tremor, driven by the resurgence of lesional procedures following the success of high-intensity focused ultrasound, there is a need for a focused, updated review to support clinicians and patients selecting the most appropriate surgical treatment in tremor.

Results: This educational review discusses the evidence behind, and surgical approaches to, essential tremor, Parkinson's disease tremor and dystonic tremor.

Conclusions: Key topics addressed in the educational review include outcomes of different surgical treatments across tremor syndromes and stereotactic targets, waning benefit after surgical treatment, and optimization of patient selection with regards to high-intensity focused ultrasound and deep brain stimulation.

Background: Progressive Supranuclear Palsy (PSP) is a rare and severe neurodegenerative tauopathy characterized by diverse clinical phenotypes, including Richardson's syndrome (PSP-RS), PSP-parkinsonism (PSP-P), PSP-progressive gait freezing (PSP-PGF), and PSP-corticobasal syndrome (PSP-CBS). Significant geographic variation exists in prevalence, clinical presentations, and prognosis.

Objectives: This global review aims to systematically evaluate the epidemiological variation, clinical phenotypes, diagnostic practices, and management strategies for PSP, focusing on regional disparities and identifying influencing genetic and environmental factors.

Methodology: A comprehensive literature search following PRISMA guidelines was conducted, analyzing studies reporting PSP epidemiology, phenotypes, diagnostic criteria, risk factors, treatments, and prognoses. Data were categorized into epidemiology, risk factors, clinical presentations, diagnosis, treatment accessibility, and outcomes, considering geographic variation.

Results: Global PSP prevalence ranges between 5-6.4 per 100,000, influenced by diagnostic criteria and healthcare infrastructure. Clinical manifestations commonly include supranuclear gaze palsy, frequent falls, cognitive impairment, and motor dysfunction. Prognosis significantly varies with subtype; PSP-RS shows rapid progression and shorter survival (5-7 years), whereas PSP-P has a milder clinical course (8-12 years). Regional variations highlight differences in genetic predispositions, notably the MAPT H1 haplotype, environmental risk factors such as dietary neurotoxins and industrial pollutants, and accessibility to comprehensive healthcare services. Diagnostic accuracy has improved with the adoption of MDS-PSP criteria, facilitating recognition of diverse phenotypes.

Conclusions: Regional disparities in PSP prevalence, phenotypic presentation, and healthcare accessibility underscore the importance of standardized diagnostic criteria, targeted genetic and environmental studies, and equitable healthcare strategies. Enhanced global collaboration is essential for improving PSP diagnosis, management, and patient outcomes worldwide.

Background: DOPA decarboxylase (DDC) in cerebrospinal fluid (CSF) is an emerging Parkinson's disease (PD) biomarker, but its association with nonmotor symptoms is unclear.

Objectives: We aimed to determine if baseline DDC was associated with future cognitive decline in PD.

Methods: We correlated baseline CSF DDC, detected using the proximity extension assay, with Montreal Cognitive Assessment (MoCA) score using longitudinal data from 3 cohorts: Biopark, PPMI, and PDBP.

Results: DDC was significantly associated with cognitive decline in both the Biopark cohort (P-value < 0.0001) and the PDBP/PPMI cohorts (P-value < 0.0001). The results were still significant after correcting for levodopa-equivalent daily dose in the Biopark cohort (P-value < 0.0001) and when the analysis was restricted to the de novo subjects, both in Biopark (P-value: 0.0065) and PPMI (P-value<0.0001) cohorts.

Conclusions: CSF DDC is a potential biomarker for the prediction of cognitive decline in PD patients.

Background: Congenital mirror movements (CMM) are involuntary movements on one side of the body that mirror intentional movements on the opposite side, which persist in adult life. While mutations in DCC, RAD51, NTN1 and other genes have been associated with CMM, recent evidence suggests tubulinopathies, including TUBB3 mutations, may also contribute.

Cases: An 11-year-old girl with developmental delay and CMM was evaluated, along with her mother and sibling via clinical assessments, neuroimaging, and genetic analysis. Diffusion tensor imaging (DTI) was used to assess corticospinal tract abnormalities. A heterozygous TUBB2B variant was identified in all three affected individuals. DTI revealed reduced corticospinal tract decussation, similar to findings in other genetic causes of CMM.

Conclusions: This study highlights new phenomenology of congenital mirror movements associated with TUBB2B-related tubulinopathy, highlighting the role of TUBB2B mutations in neuronal migration, expanding the genetic spectrum of congenital mirror movements.