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Article

Dopa‐Responsive Parkinsonism in a Patient With Homozygous RFC1 Expansions

1 Oct 2020

Abstract excerpt

We read the letter titled “RFC1 Intronic Repeat Expansions Absent in Pathologically Confirmed Multiple Systems Atrophy” published online in April 20201 with great interest. In light of that letter, we would like to expand the phenotypic spectrum of RFC1 expansion-related disorders by reporting dopa-responsive parkinsonism in a 63-year-old woman. She developed parkinsonian symptoms in her early 50s, characterized...

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PMID: 33068476
DOI: 10.1002/mds.28286

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