Scientific Publication 

Juvenile Parkinsonism Associated with Heterozygous Frameshift ATP13A2 Gene Mutation

Author(s): Rolfs, Prof. Arndt, MD, Fong, Prof. Choong Yi, MD, Schwarzbraun, Thomas, MD, Klein, Prof. Christine, MD, O’Callaghan, Finbar JK, PhD

We report a case of levodopa-responsive juvenile parkinsonism (JP) associated with a heterozygous ATP13A2 gene frameshift mutation. Read more!

We report a case of levodopa-responsive juvenile parkinsonism (JP) associated with a heterozygous ATP13A2 gene frameshift mutation. To our knowledge, this is the youngest reported patient with JP associated with a heterozygous ATP13A2 mutation. Our findings expand the clinical phenotypic spectrum of JP associated with heterozygous ATP13A2 mutation.


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