Parkinsonism & related disorders最新文献

Background: Magnetic resonance imaging (MRI) planimetric biomarkers such as the midbrain to pons (M/P) ratio, magnetic resonance parkinsonism index (MRPI), and MRPI 2.0 have demonstrated high diagnostic accuracy discriminating Progressive Supranuclear Palsy (PSP) patients from other atypical parkinsonisms and Parkinson's Disease (PD). However, these indexes have not been studied in the specific context of lower body parkinsonism (LBP), where the differential diagnosis between PSP, vascular parkinsonism (VP) and normal pressure hydrocephalus (NPH) is of great clinical relevance.

Objectives: Our aim was to study MRI planimetry in LBP patients, assessing its role in the differential diagnosis.

Methods: We analyzed MRI planimetric measures, ratios and parkinsonism indexes in a retrospective sample of 71 subjects with an established clinical diagnosis: 23 of VP, 12 of NPH, 23 of PSP, compared with a group of 13 PD patients without gait or postural changes.

Results: All groups with LBP-associated diagnosis showed smaller midbrain areas and wider third ventricle and frontal horns widths than the PD group. The PSP group presented the highest medians of P/M ratio, MRPI and MRPI 2.0, significantly different from all groups except NPH. The MRPI 2.0 discriminates PSP and NPH from VP patients at group level.

Conclusions: Our study found that MRPI 2.0 is able to differentiate PSP and NPH from VP at group level contributing to the differential diagnosis of LBP. Additionally, midbrain size reduction, and third ventricle and frontal horns enlargement may constitute key imaging features of LBP phenotype, including VP, NPH and PSP patients, differing from PD.

Introduction: Hemifacial spasm (HFS) is a disabling movement disorder characterized by involuntary, unilateral facial muscle contractions. Botulinum toxin (BTX) is the standard non-surgical treatment, but response variability exists, and predictors of outcomes remain underexplored, especially in the Asian subcontinent. This study aimed to identify clinical and neuroimaging predictors of BTX response in primary HFS.

Methods: A prospective cohort study at a tertiary care centre in North India enrolled 90 BTX-naïve primary HFS patients from September 2022 to June 2024. Clinical assessments included the Hemifacial Spasm Grading Scale (HSGS), HFS-7 Quality of Life scale (HFS-7), and the Depression, Anxiety, and Stress Scale (DASS-21). THE FIESTA MRI evaluated neurovascular compression (NVC) at the facial nerve root exit zone. Outcomes were classified as good (JFG ≥3) or poor responders (JFG<3). Univariate analysis and logistic regression identified predictors of response.

Results: The mean age was 51.5 ± 11.2 years; 67.8% were female. At 3 months, 76.7% had good outcomes, increasing to 85.6% after dose titration at the second visit. Poor response (14.4%) was significantly associated with hypertension (OR, 17.55; p = 0.009) and NVC (OR, 9.37; p = 0.044). These patients also exhibited worse depression, anxiety, stress scores, poorer quality of life, and required higher BTX doses.

Conclusion: HFS responds well to BTX, but hypertension and NVC are independent predictors of poor response. Patients show higher psychiatric burden and lower quality of life. Early dose escalation may improve outcomes. The prospective study guides personalized HFS management by integrating clinical, radiological, and comorbid psychiatric predictors.

Perry syndrome is a rare autosomal dominant neurodegenerative disorder characterized by parkinsonism, depression, weight loss, and central hypoventilation. Early diagnosis is challenging because presentations are heterogeneous. A 51-year-old man presented with hyperthermia, impaired consciousness, tachycardia, and gastrointestinal hypomotility suggestive of anticholinergic toxicity. Despite therapeutic fesoterodine levels, he developed hypercapnia requiring mechanical ventilation and later exhibited rigidity with marked creatine kinase elevation, consistent with malignant parkinsonism. Dopamine transporter imaging demonstrated presynaptic dopaminergic loss, and follow-up magnetic resonance imaging revealed bilateral globus pallidus and substantia nigra hyperintensities. Family history was informative, and genetic testing confirmed a DCTN1 mutation. The presentation was multifactorial, reflecting an interaction between therapeutic anticholinergic exposure, reduced cholinergic reserve related to Perry syndrome, endogenous dopaminergic deficiency, and systemic stress. Early recognition is crucial because central hypoventilation may lead to life-threatening respiratory failure.

Introduction: Parkinson's disease (PD), pure autonomic failure (PAF), and multiple system atrophy (MSA) feature intracellular deposition of alpha-synuclein and catecholamine deficiency in the putamen or heart. This retrospective, cross-sectional, observational study assessed relationships of cerebrospinal fluid alpha-synuclein seed amplification assay (CSF SAA) data with catecholamine deficiency indicated by positron emission tomography (PET).

Methods: In groups with PD, PAF, parkinsonian MSA (MSA-P), or cerebellar MSA (MSA-C) SAAs were conducted by Rocky Mountain Laboratories (RML) and Amprion, Inc. using different assay conditions. ¹⁸F-DOPA PET examined putamen dopaminergic innervation, and ¹⁸F-dopamine PET assessed cardiac noradrenergic innervation.

Results: CSF SAAs by both RML and Amprion separated PD or PAF from MSA. The Amprion assay detected type 1 seeding associated with Lewy body diseases (LBDs) in 22/24 (92%) PD patients and 15/16 (94%) PAF patients and type 2 seeding associated with MSA in 9/10 (90%) MSA-P and 3/4 (75%) MSA-C patients (p < 0.0001). All of 24 PD and all of 9 MSA-P patients had low putamen/occipital cortex ratios of ¹⁸F-DOPA-derived radioactivity, while 11/13 (85%) PAF patients and 4/4 (100%) MSA-C patients had normal ratios. Contingency analyses of CSF SAA and brain ¹⁸F-DOPA PET efficiently separated the 4 groups (p < 0.0001).

Conclusion: CSF SAAs and cardiac ¹⁸F-dopamine PET distinguish LBDs from MSA but not PAF from PD or MSA-P from MSA-C. ¹⁸F-DOPA PET separates PAF from PD and MSA-P from MSA-C. Combining biomarkers differentiates among these synucleinopathies.

Background: Emerging evidence suggests that the choroid plexus (CP) contributes to cognitive dysfunction through its role in cerebrospinal fluid regulation and barrier function. However, its imaging profile in multiple system atrophy (MSA) remains unexplored. This study aimed to investigate CP structural and microstructural alterations in MSA patients and to examine their associations with cognitive performance.

Methods: Eighty-six patients with MSA (46 with mild cognitive impairment [MSA-MCI], 40 with normal cognition [MSA-NC]) and 40 age-matched healthy controls (HC) underwent T1-weighted and multi-shell diffusion MRI, along with cognitive assessments (Montreal Cognitive Assessment [MoCA], Mini-Mental State Examination [MMSE]). Bilateral CPs were segmented using a Gaussian Mixture Model algorithm. CP volume and free water fraction (FWf) were compared across groups, and associations with global cognitive scores were assessed using partial correlations adjusting for age, sex, intracranial volume, and disease duration.

Results: Both MSA groups showed significantly higher CP volume compared with HC (MSA-NC:956.98 ± 193.40 mm³; MSA-MCI: 1327.67 ± 374.47 mm³; HC: 723.53 ± 152.14 mm³; P < 0.001). Besides, MSA-MCI exhibited significantly greater CP volume (1327.67 ± 374.47 mm³) and FWf (0.82 ± 0.03) than MSA-NC (volume: 956.98 ± 193.40 mm³; FWf: 0.77 ± 0.06; P < 0.001). Higher CP volume and FWf were negatively correlated with MoCA (r = -0.32 and -0.40) and MMSE (r = -0.41 and -0.49) scores after covariate adjustment (P < 0.05).

Conclusion: CP enlargement and increased FWf may suggest glymphatic dysfunction in MSA and are associated with cognitive impairment.

Background: Standardized severity thresholds for the MDS-UPDRS facilitate interpretation of symptom burden in Parkinson's disease (PD). However, domain-specific severity profiling using these cut-offs has not been systematically evaluated in Türkiye, and international studies rarely apply them across all MDS-UPDRS domains in real-world cohorts.

Objective: To describe domain-specific severity distributions of MDS-UPDRS Parts I-IV in a large multicenter Turkish PD cohort and examine clinical correlates.

Methods: In this multicenter cross-sectional study, 1181 patients with PD from five Turkish movement disorder centers were evaluated between January 2023 and July 2025. Severity of each MDS-UPDRS domain was classified as mild, moderate, or severe using validated cut-offs proposed by Martínez-Martín et al. RESULTS: Using the predefined Martínez-Martín cut-offs, 53.0% of patients were classified as mild in Part I and 57.8% in Part II, whereas 50.1% fell within the moderate-severe range in Part III and 73.5% were mild in Part IV. In contrast, MDS-UPDRS Part III showed a shift toward moderate severity, suggesting a relative difference in severity distribution across domains. Disease duration showed the strongest association with domain scores.

Conclusion: In this large Turkish PD cohort, patient-reported daily-living and non-motor impairments clustered more frequently within the mild severity range compared with motor examination scores. These findings suggest that sociocultural factors may influence self-reported disease burden and highlight the need for complementary assessment approaches.