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Research Letter
August 2018

An Autopsy Case of Progressive Supranuclear Palsy With Incidental ATXN2 Expansion

Author Affiliations
  • 1Department of Neurology, Seoul St Mary’s Hospital, The Catholic University of Korea, Seoul, Republic of Korea
  • 2Department of Pathology, College of Medicine, Seoul National University Hospital, Seoul, Republic of Korea
  • 3Department of Neurology, College of Medicine, Seoul National University Hospital, Seoul, Republic of Korea
JAMA Neurol. 2018;75(8):1025-1027. doi:10.1001/jamaneurol.2018.0652

A case of multiple system atrophy with predominant parkinsonism (MSA-P) with ATXN2 (OMIM 601517) expansion was previously reported.1 However, the autopsy in that patient showed tauopathy without evidence of spinocerebellar ataxia type 2 (SCA2). Herein, we present the pathologic findings to correct the previous misdiagnosis. This patient is case 3 in the previous report,1 which details clinical history and examination. He died when he was in his late 60s due to pneumonia, 9 years after onset of the disease. A rare chance to examine MSA-P with low-range ATXN2 expansion prompted us to perform an autopsy.

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