Brain MRI in Progressive Supranuclear Palsy with Richardson's Syndrome and Variant Phenotypes

Abstract

BackgroundBrain magnetic resonance imaging (MRI) is used to support the diagnosis of progressive supranuclear palsy (PSP). However, the value of visual descriptive, manual planimetric, automatic volumetric MRI markers and fully automatic categorization is unclear, particularly regarding PSP predominance types other than Richardson's syndrome (RS).ObjectivesTo compare different visual reading strategies and automatic classification of T1‐weighted MRI for detection of PSP in a typical clinical cohort including PSP‐RS and (non‐RS) variant PSP (vPSP) patients.MethodsForty‐one patients (21 RS, 20 vPSP) and 46 healthy controls were included. Three readers using three strategies performed MRI analysis: exclusively visual reading using descriptive signs (hummingbird, morning‐glory, Mickey‐Mouse), visual reading supported by manual planimetry measures, and visual reading supported by automatic volumetry. Fully automatic classification was performed using a pre‐trained support vector machine (SVM) on the results of atlas‐based volumetry.ResultsAll tested methods achieved higher specificity than sensitivity. Limited sensitivity was driven to large extent by false negative vPSP cases. Support by automatic volumetry resulted in the highest accuracy (75.1% ± 3.5%) among the visual strategies, but performed not better than the midbrain area (75.9%), the best single planimetric measure. Automatic classification by SVM clearly outperformed all other methods (accuracy, 87.4%), representing the only method to provide clinically useful sensitivity also in vPSP (70.0%).ConclusionsFully automatic classification of volumetric MRI measures using machine learning methods outperforms visual MRI analysis without and with planimetry or volumetry support, particularly regarding diagnosis of vPSP, suggesting the use in settings with a broad phenotypic PSP spectrum. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

A novel MAPT variant (E342K) as a cause of familial progressive supranuclear palsy

“…This significant midbrain atrophy aligns well with the clinical manifestations commonly observed in patients with sporadic PSP-RS. In summary, the patient's MRI findings are consistent with established literature, reinforcing their diagnosis as a case of PSP-RS (53)(54)(55).…”

Planimetric and Volumetric Brainstem MRI Markers in Progressive Supranuclear Palsy, Multiple System Atrophy, and Corticobasal Syndrome. A Systematic Review and Meta-Analysis

“…After duplicate record elimination, 1096 records were screened by reviewing the title and abstract, eliminating 702 further studies. For the 337 remaining records, full texts were reviewed, eliminating 315 records (unrelated content: n = 280; patient or control group consisting of <10 subjects: n = 22 [18][19][20][21][22][23][24][25][26][27][28][29][30][31][32][33][34][35][36][37]; full text unavailable: n = 1 [38]; non-extractable data: n = 1 [39]; data in median/quartiles: n = 4 [40][41][42][43]; identical study cohorts or study cohorts with significant overlap: n = 2 [8,44]; data on PSP/MSA cohorts without distinction of RS/MSA-P phenotypes: n = 5 [45][46][47][48][49]). Five studies were identified via manual search of related papers, references, and citing papers [13,[50][51][52][53].…”