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.
Kim A, Park S, Jeon B. An Autopsy Case of Progressive Supranuclear Palsy With Incidental ATXN2 Expansion. JAMA Neurol. 2018;75(8):1025–1027. doi:10.1001/jamaneurol.2018.0652
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