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Published on: April 4, 2018
Resolving 'vascular parkinsonism' -COL22A1 as a genetic adult-onset leukoencephalopathy
Luca Marsili1, Marcelo A Kauffman2, Diandra Rufin Florat3
1James J. and Joan A. Gardner Center for Parkinson's Disease and Movement Disorders, Department of Neurology, University of Cincinnati, Cincinnati, OH, USA.
Abstract:
We describe an elderly woman meeting criteria for vascular parkinsonism/dementia associated with a likely pathogenic variant in the COL22A1 gene, supported by functional experiments in a zebrafish model. We suggest that white matter hyperintensities may not represent small-vessel ischemic disease and that, if confirmed by further observations, COL22A1 may be included among the adult-onset leukoencephalopathies mislabeled as "vascular parkinsonism."
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