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Article

Expansion of the clinicopathological and mutational spectrum of Perry syndrome.

Parkinsonism & related disorders - 1 Apr 2014

Chung Eun Joo, Hwang Ji Hye, Lee Myung Jun, Hong Jeong-Hoon, Ji Ki Hwan, Yoo Woo-Kyoung, Kim Sang Jin, Song Hyun Kyu, Lee Chong S, Lee Myung-Sik, Kim Yun Joong

Abstract excerpt

BACKGROUND: Perry syndrome (PS) caused by DCTN1 gene mutation is clinically characterized by autosomal dominant parkinsonism, depression, severe weight loss, and hypoventilation. Previous pathological studies have reported relative sparing of the cerebral cortex in this syndrome. Here, we characterize novel clinical and neuroimaging features in 3 patients with PS. METHODS: (18)F-fluorinated...

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Identifiers

PMID: 24484619
DOI: 10.1016/j.parkreldis.2014.01.010

Genes

CIT
DCTN1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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