Article
Neither a Novel Tau Proteinopathy nor an Expansion of a Phenotype: Reappraising Clinicopathology-Based Nosology.
International journal of molecular sciences - 7 Jul 2021
Marsili Luca, Sharma Jennifer, Espay Alberto J, Migazzi Alice, Abdelghany Elhusseini, Hill Emily J, Duque Kevin R, Hagen Matthew C, Stephen Christopher D, Kovacs Gabor G, Lang Anthony E, Hadjivassiliou Marios, Basso Manuela, Kauffman Marcelo A, Sturchio Andrea
Abstract excerpt
The gold standard for classification of neurodegenerative diseases is postmortem histopathology; however, the diagnostic odyssey of this case challenges such a clinicopathologic model. We evaluated a 60-year-old woman with a 7-year history of a progressive dystonia-ataxia syndrome with supranuclear gaze palsy, suspected to represent Niemann-Pick disease Type C. Postmortem evaluation unexpectedly demonstrated...
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