An Autopsy Case of Progressive Supranuclear Palsy With Incidental ATXN2 Expansion

Ahro Kim; Sung-Hye Park; Beomseok Jeon

doi:10.1001/jamaneurol.2018.0652

An Autopsy Case of Progressive Supranuclear Palsy With Incidental ATXN2 Expansion

JAMA Neurol. 2018 Aug 1;75(8):1025-1027. doi: 10.1001/jamaneurol.2018.0652.

Authors

Ahro Kim¹, Sung-Hye Park², Beomseok Jeon³

Affiliations

¹ Department of Neurology, Seoul St Mary's Hospital, The Catholic University of Korea, Seoul, Republic of Korea.
² Department of Pathology, College of Medicine, Seoul National University Hospital, Seoul, Republic of Korea.
³ Department of Neurology, College of Medicine, Seoul National University Hospital, Seoul, Republic of Korea.

Abstract

This case report describes autopsy findings of progressive supranuclear palsy in a patient with a misdiagnosis of multiple system atrophy with predominant parkinsonism.

Publication types

Case Reports

MeSH terms

Aged
Ataxin-2 / genetics
Autopsy
Brain / pathology*
Diagnostic Errors*
Humans
Multiple System Atrophy / diagnosis*
Multiple System Atrophy / genetics
Parkinsonian Disorders / diagnosis*
Parkinsonian Disorders / genetics
Supranuclear Palsy, Progressive / diagnosis*
Supranuclear Palsy, Progressive / genetics
Supranuclear Palsy, Progressive / pathology
Trinucleotide Repeat Expansion

Substances

ATXN2 protein, human
Ataxin-2