Movement Disorders Clinical Practice最新文献

Background: Despite the growing interest in the link between Parkinson's disease (PD) neuropathology and vestibular system, there is still a lack of consensus about the presence of vestibular dysfunctions in PD.

Objective: This review aims to identify vestibular signs and symptoms reported in PD patients and to summarize and critically appraise the measurement tools used to assess them.

Methods: We searched at MEDLINE, Web of Science, Scopus, and PEDro databases until June 2023. All experimental or observational studies focused on evaluating vestibular signs or symptoms in PD patients were included. For clinical appraise of measurement tools previously published criteria were applied.

Results: In total, 104 studies met the inclusion criteria. A total of 238 vestibular signs were identified, with the most frequently reported being nystagmus (n = 47, 19.7%) central oculomotor abnormalities (n = 47, 19.7%), vestibular evoked myogenic potentials impairments (n = 39, 16.4%), and postural control impairments (n = 37, 15.5%). A total of 27 vestibular symptoms were identified, with dizziness (n = 17, 63.0%) being the most frequently reported. Of the most commonly used, 6 were classified as "recommended," 14 as "suggested," and 5 as "listed."

Conclusions: Our findings raise awareness that vestibular signs and symptoms may be present in PD and should therefore be assessed comprehensively using the most suitable measurement tools. Future studies should focus on investigating the relationship between PD and the vestibular system, the progression of these signs and symptoms across disease stages, and the development of a standardized vestibular assessment protocol for PD to improve clinical management of these symptoms.

Background: Compared to Parkinson's disease, atypical parkinsonian disorders (APD) are characterized by a more rapidly progressive course, often leading to profound disability. Effective communication between clinicians, patients, and care partners is essential to support patient-centered care and shared decision-making. However, most neurologists lack formal training in serious illness conversations (SIC).

Objective: To develop a practical SIC guide tailored to the needs of individuals with APD.

Methods: Members of the CurePSP Centers of Care Palliative Care Working Group, in collaboration with a SIC education expert (TC), developed a SIC guide for APD. A literature review was conducted, followed by online consensus-building rounds.

Results: Applying core communication principles-such as active listening, pausing, naming and validating emotions, assessing understanding, and reframing-can foster alignment between clinicians, patients, and their care partners. Navigating the balance between maintaining hope and providing realistic, anticipatory guidance remains challenging but best achieved by honest, compassionate dialogue. Four practical guides were developed, addressing common and often challenging scenarios: delivering an APD diagnosis, eliciting patient goals in the context of changing clinical status, addressing safety concerns, and discussing quality of life and end-of-life considerations.

Conclusions: Patients and their care partners living with APD benefit greatly from individualized guidance, and honest, empathic communication is a vital part of patient-centered care. While existing SIC frameworks offer valuable foundations, further research is needed to optimize their adaptation for APD-identifying best timing, specific frameworks, relevant outcome measures, and education strategies to build team-wide competency.

Background: Ataxia-telangiectasia (AT) is a rare neurodegenerative disorder caused by biallelic ATM gene mutations. While most patients exhibit classical features-progressive ataxia, oculocutaneous telangiectasia, and oculomotor apraxia-atypical presentations and overlapping phenotypes with AT-like disorders pose diagnostic challenges.

Objectives: To describe clinical and genetic findings in patients with suspected AT and assess the diagnostic utility of whole-exome sequencing (WES).

Methods: We analyzed 20 patients with clinical features suggestive of AT who underwent genomic evaluation.

Results: Pathogenic or likely pathogenic ATM variants were found in 14 /19 patients with available data. Three had mutations in MRE11A or PCNA, consistent with ATLD1 and ATLD2, respectively. Two patients with classic phenotypes lacked conclusive genetic findings.

Conclusions: Our findings highlight the phenotypic and genetic heterogeneity of AT and limitations of WES. We propose the integration of whole-genome sequencing (WGS) and RNA sequencing as complementary tools to improve diagnostic yield in AT and AT-like syndromes.

Background: Essential tremor (ET) and dystonic tremor syndrome (DTS) can be treated using botulinum toxin (BoNT) injections. Previous reviews lacked an assessment of the certainty of evidence and focused solely on clinician-reported outcomes. Additionally, studies have demonstrated interindividual variability in BoNT efficacy.

Objective: The aim of the study was to assess the efficacy and safety of BoNT injections for ET and DTS of the upper limbs, and to identify factors associated with BoNT efficacy.

Methods: We systematically searched Pubmed, Embase, Cochrane Library, and Web of Science databases for studies on BoNT injections in ET and DTS of the upper limbs. The certainty of evidence was rated using the Grading of Recommendations, Assessment, Development, and Evaluation (GRADE) approach. Outcomes from randomized controlled trials (RCTs) were pooled as standardized mean differences (SMDs).

Results: We identified 5 RCTs, 6 open-label trials, and 6 retrospective cohort studies. Meta-analysis of post-intervention scores showed a moderate effect on patient-reported change (SMD: 0.58 [95% confidence interval [CI]: 0.39, 0.78]), no effect on clinically rated tremor severity (SMD: 1.69 [95% CI: -3.80, 0.42]), and no effect on grip strength (SMD: -0.63 [95% CI: -1.37, 0.10]). In contrast, meta-analysis using change-from-baseline scores showed an improvement of clinically rated tremor severity (SMD: -1.12 [95% CI: -1.70, -0.54]). Certainty of evidence ranged from low to very low. No clear associations between BoNT efficacy and tremor phenotypes or injection strategies were identified.

Conclusions: Patient-tailored BoNT injections may be effective and safe for ET and DTS. More trials are needed to confirm efficacy and safety, identify which tremor phenotypes benefit the most, and optimize injection strategies.

Background: The diagnosis of movement disorders relies on identifying the salient phenomenology during clinical examination. Besides a thorough in-person examination, the clinician may rely on video recording, particularly in cases of transient, fluctuating, or paroxysmal movement disorders. As such, this subspecialty has been profoundly influenced by the advent of and access to film, video, and digital documentation.

Objective: The aim was to review the historical development of video technology in the field of movement disorders, tracing its origins from early observational methods to its modern-day applications in telemedicine, clinical research, and neurology education.

Methods: We conducted interviews with 10 experts in movement disorders, many of whom actively played a role in formalizing movement disorders as a clinical discipline.

Results: Our understanding of movement disorders was greatly advanced by the adoption of film at first and video later. The growing relative ease of access to videos allowed easy clinical use in the clinic and its display during video rounds and conferences. A session at the American Academy of Neurology led by David Marsden and Stanley Fahn played a particularly pivotal role in formalizing phenomenology and establishing video as a tool.

Conclusions: The use of patient recordings paralleled the growth of movement disorders as a field as they played a foundational role in the description of phenomenology, formulation of rating scales, and the education of neurologists. The potential of video recordings continues to be realized, most recently through telemedicine and the adoption of machine learning algorithms in research.