Movement Disorders Clinical Practice最新文献

Background: The Movement Disorder Society-Unified Parkinson's Disease Rating Scale-Part III (MDS-UPDRS-III) is subjective and insensitive to subtle changes in patients with Parkinson's disease (PD). Computer vision (CV) can extract objective kinematics from routine outpatient videos, potentially augmenting the accuracy of the motor assessment.

Objective: We set out to (1) Identify CV-derived finger-tapping features that discriminate PD from healthy controls (HC); and (2) Quantify the relationship of these extracted features with clinical and Dopamine Transporter Single-photon Emission Computed Tomography (DAT-SPECT) anchors in PD patients.

Methods: We retrospectively analyzed outpatient finger-tapping videos from PD patients with DAT-SPECT positivity within one year from videos and HC. A Mediapipe-based pipeline quantified tapping velocity, changes in amplitude, and variability in amplitude and rhythm. Diagnostic performance was estimated with Receiver Operating Characteristic Area Under the Curves (ROC AUC) and 95% Confidence Interval (CI). Spearman assessed the relationship between tapping features, MDS-UPDRS-III, item 3.4 (finger tapping), and disease duration.

Results: Thirty-two PD patients and ten controls were included. Amplitude variability (AUCs, 0.93; 95% CI, 0.84-0.99, P < 0.001), and rhythm variability (AUC, 0.83; 95% CI, 0.69-0.94, P < 0.001) exhibited the best discriminatory capacity for a PD diagnosis. MDS-UPDRS-III correlated positively with amplitude variability (ρ = 0.55, p = 0.001) and amplitude decrement (ρ = 0.414, P = 0.009), and negatively with tapping velocity (ρ = -0.34, P = 0.05). Amplitude variability (ρ = 0.387, P = 0.014), and rhythm variability (ρ = 0.304, P = 0.045) directly correlated with item 3.4, while amplitude variability positively correlated with disease duration (ρ = 0.39, P = 0.026).

Conclusion: CV-derived tapping variability features objectively discriminated PD from healthy subjects and tracked motor severity.

Background: Classifying abnormal tongue movements is challenging due to their varied presentations and limited visibility compared to other body parts. Accurate identification of the phenomenology guides physical examination and can point to specific diagnoses. Yet, a systematic classification of tongue movements is lacking, partly due to the challenge in segregating the phenomenology into discrete categories.

Objectives: This educational review aims to refine the classification of abnormal tongue movements through clinical phenomenology, exploring associated etiologies, differential diagnoses, and neuroanatomical underpinnings.

Methods: We conducted a comprehensive literature search in PubMed using terms related to tongue movements and movement disorder phenomenologies up to March 2024. Videos from the literature and cases from our own clinical practice were reviewed to confirm phenomenology. Findings were synthesized narratively, providing an overview of abnormal tongue movements across various phenomenologies of movement disorders.

Results: Abnormal tongue movements were classified into distinct categories: action tremor, rest tremor, dystonia, myoclonus, chorea, myorhythmia and unusual or difficult-to-classify phenomenologies. Corresponding etiologies were categorized into idiopathic, genetic syndromes, structural, autoimmune/inflammatory, infectious/post infectious, drug-related, neurodegenerative and functional causes.

Conclusions: This review provides a comprehensive framework for diagnosing abnormal tongue movements. Tongue movements are often quite varied and can sometimes be difficult to classify. Tongue movements rarely occur in isolation and are usually accompanied by orofacial and pharyngeal movement disorders. Examining the tongue and identifying the accurate phenomenology is an important part of the neurological exam and can reveal vital clues to specific underlying etiologies.

Background: Loss of dorsolateral nigral hyperintensity (DNH), also known as the swallow tail sign, on iron-sensitive MRI is a promising imaging marker for neurodegenerative parkinsonism. Susceptibility Map-Weighted Imaging (SMWI), an advanced MRI technique incorporating quantitative susceptibility mapping, has demonstrated superior contrast-to-noise ratio for detecting this feature, but has only been evaluated in small cohorts.

Objective: Determine the diagnostic accuracy of SMWI in degenerative parkinsonism and other neurological conditions.

Methods: We conducted a retrospective, diagnostic accuracy study of patients who underwent 3.0 T MRI with SMWI at our institution. Clinical diagnosis by neurologists served as the reference standard. Controls included patients with other movement disorders or neurological conditions. Two blinded readers assessed the presence of DNH independently, with discrepancies resolved by a senior neuroradiologist.

Results: A total of 248 patients were analyzed for the diagnostic accuracy of DNH using SMWI. Overall, the sensitivity was 92.0% (95% CI: 87.1-95.2%) and the specificity 95.8% (95% CI: 88.5-98.6%), for differentiating degenerative parkinsonism from other neurological conditions with excellent interrater reliability (κ = 0.88). The sensitivity for Parkinson's disease (PD) was 93.2% and 88.4% for atypical parkinsonism and remained high in early PD (88.2%) and in patients with mild motor disability (94.2%).

Conclusions: SMWI is an accurate and reproducible imaging technique for diagnosing neurodegenerative parkinsonism, comparable to previously reported DAT-scan accuracy. Other sequences used to assess the DNH such as regular Susceptibility Weighted Imaging have shown variable results, particularly when studying disease controls. These findings support the adoption of SMWI as a standard commercial sequence in clinical MRI platforms.

Background: Drug-induced Parkinsonism (DIP) is a predictor of future idiopathic Parkinson's disease (PD), yet the prodromal characteristics of DIP remain unexplored.

Objectives: To compare prodromal peripheral immune cell profiles in DIP and PD.

Methods: We applied independent regression models to evaluate the peripheral immune cell profiles in individuals with incident DIP (n = 108) and PD (n = 1055) relative to 20,070 healthy controls from the UK Biobank.

Results: Approximately 9 years before diagnosis, both DIP and PD cases exhibited elevated neutrophil counts, neutrophil-to-lymphocyte ratio (NLR), and systemic immune-inflammation index (SII). Only PD cases showed reduced lymphocyte counts. After adjusting for psychiatric comorbidities, DIP-associated peripheral immune alterations were no longer significant.

Conclusions: The elevated neutrophil counts in DIP and PD suggest a shared innate immune system involvement. However, in DIP, the peripheral immune changes appear driven by psychiatric comorbidities, whereas lymphopenia may represent a distinctive prodromal biomarker of PD.

Background: Globalization and increased international mobility have reshaped the topography of movement disorders worldwide, with disorders once considered confined to specific ethnicities or geographic areas now being observed in unexpected contexts. This requires neurologists to be aware of specific phenotypes outside their originally described settings, select appropriate genetic testing, and interpret findings within diverse patient backgrounds.

Objectives: This review examines the ethnic and geographical distribution of specific movement disorders, aiming to support clinicians in developing tailored diagnostic strategies for increasingly diverse patient populations.

Methods: We reviewed the literature for each type of movement disorder associated with specific ethnicities or geographical areas.

Results: We examine the distribution of particular forms of dystonia, parkinsonism, ataxia, chorea, tremor and other movement disorders worldwide, providing a map of their prevalence in certain regions or ethnic groups.

Conclusions: The global distribution of some movement disorder phenotypes reflects a complex interplay among genetic, ethnic, geographic, and sociocultural factors. Certain disorders cluster within specific populations due to founder effects and high inbreeding coefficients, while others are more widespread, underscoring independent mutational events or extremely distant common ancestors.

Background: Gait and mobility impairments are early markers of disease-related decline in individuals with Friedreich's ataxia (FRDA).

Objectives: This study aimed to identify the digital gait measures most discriminative of individuals with FRDA from healthy controls (HC) during an instrumented walking assessment. We also investigated if top discriminative gait measures correlated with disease severity.

Methods: We recruited 24 participants with FRDA and 24 HCs to complete a 2-min walk at a natural pace while wearing six wearable sensors on the hands, feet, sternum, and lower lumbar area. AUCs between FRDA and HC compared 51 gait measures, including standard deviations as estimates of variability, to discriminate between ataxic and normal gait. Spearman's correlation coefficients assessed the relationships between the most discriminative measures and ataxia severity from clinical outcome measures.

Results: We identified 10 measures with strong discriminative ability for gait characteristics of FRDA. The most discriminative measure was double-support time SD (AUC = 0.98, ICC = 0.95); a measure of variability. Eight out of the 10 most discriminate measures involved excessive gait variability in the FRDA group. The top five discriminative gait measures significantly correlated with the mFARS USS (r = 0.45-0.63) and two discriminative gait measures significantly correlated with the FARS ADL (r = 0.62 and 0.5). Test-retest reliability of the top measures were high (ICC = 0.85-0.98).

Conclusions: Digital gait measures from wearable sensors were discriminative, reliable, and showed concurrent validity for evaluating ataxia severity during an instrumented walk test. These results suggest promising utility of digital gait outcomes for use in FRDA clinical trials.

Background: Equitable representation in clinical trials is essential to informing evidence-based treatment and reducing health disparities. No evidence is available about racial, ethnic and sex representation in Tourette's Syndrome (TS) treatment trials.

Objectives: To evaluate racial, ethnic and sex representation in randomized controlled trials (RCTs) of TS medications.

Methods: We searched CENTRAL, Embase, PsycINFO, PubMed, Web of Science Core Collection and ClinicalTrials.gov for TS RCTs conducted in the US. The primary outcome was participation-to-prevalence ratio (PPR), the proportion of trial participants in racial, ethnic and sex subgroups divided by the proportion of individuals in the corresponding subgroup in the US population. Data were pooled through random-effects meta-analysis. Temporal trends were explored using meta-regression.

Results: Overall, 40 RCTs involving 1717 participants were included. All trials reported sex, but only 22 (55%) and 12 (30%) provided race and ethnicity data, respectively. Reporting of race and ethnicity improved over time (meta-regression coefficient (b) 1.80, 95% confidence interval [CI] 0.62-2.98 per decade, P = 0.002). Asian (PPR 0.46, 95% CI 0.29-0.75, P = 0.002), Black (PPR 0.44, 95% CI 0.34-0.57, P < 0.001), Hispanic (PPR 0.41, 95% CI 0.27-0.64, P < 0.001) and female (PPR 0.75, 95% CI 0.65-0.85, P < 0.001) individuals were underrepresented. Only Hispanic enrollment improved over time (b 0.78, 95% CI 0.35-1.20 per decade, P < 0.001).

Conclusions: There are disparities in racial, ethnic and sex representation in RCTs of TS medications. Under-enrollment of minority participants may reflect disparities in terms of actual diagnosis of the condition, recruitment of minority individuals for participation in research studies or both.