• Eun Joo Chung, Ji Hye Hwang, Myung Jun Lee, Jeong-Hoon Hong, Ki Hwan Ji, Woo-Kyoung Yoo, Sang Jin Kim, Hyun Kyu Song, Chong S Lee, Myung-Sik Lee, and Yun Joong Kim.
• Department of Neurology, Busan Paik Hospital, Inje University College of Medicine, Busan, Republic of Korea.
• Parkinsonism Relat. Disord. 2014 Apr 1; 20 (4): 388-93.

BackgroundPerry 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 N-3-fluoropropyl-2-ß-carboxymethoxy-3-β-(4-iodophenyl) nortropane ([(18)F]FP-CIT) PET, [(18)F]fluorodeoxyglucose PET, or volumetric MRI was performed in probands, and imaging data were analyzed and compared with those of control subjects.ResultsWe identified 2 novel mutations of DCTN1. Oculogyric crisis that presented before levodopa treatment was observed in 1 case. One patient had supranuclear gaze palsy. In 2 cases, [(18)F]FP-CIT showed marked loss of dopamine transporter binding with only mild parkinsonism. Areas of hypometabolism or cortical thickness change were observed in dorsolateral frontal, anterior cingulate, lateral temporal, and inferior parietal cortices.ConclusionOculomotor manifestations are not uncommon in PS. Neuroimaging studies suggest involvement of the frontotemporoparietal cortex, which may be the clinical correlate of apathy and depression, as well as pathological changes in subcortical structures.Copyright © 2014 Elsevier Ltd. All rights reserved.

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