Diagnosis across a cohort of "atypical" atypical and complex parkinsonism.

Parkinsonism & related disorders(2023)

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摘要
In this study, the identification of atypical APS features, as proposed in the "4-step diagnostic approach", successfully guided the investigation of alternative diagnoses. Distinctive non-neurodegenerative etiologies causing "atypical" atypical and complex parkinsonism were uncovered, including acquired (post-encephalitis and vascular) and genetic (MTP-AT6 mitochondrial disease mimicking PSP, described for the first time) ones. In the future, accurate clinical identification and distinction between neurodegenerative and non-neurodegenerative parkinsonism etiologies will allow for refining clinical trials.
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关键词
Atypical atypical parkinsonian syndromes,Complex parkinsonism,DCTN1,DiGeorge syndrome,L-2-hidroxiglutaric aciduria,MTP-AT6,Magnetic resonance parkinsonism index,Postencephalitic progressive supranuclear palsy,Vascular progressive supranuclear palsy
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