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Expansion of the clinicopathological and mutational spectrum of Perry syndrome

Authors
 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  ;  Yun Joong Kim 
Citation
 PARKINSONISM & RELATED DISORDERS, Vol.20(4) : 388-393, 2014 
Journal Title
 PARKINSONISM & RELATED DISORDERS 
ISSN
 1353-8020 
Issue Date
2014
MeSH
Base Sequence ; Depression/genetics ; Depression/pathology ; Dynactin Complex ; Female ; Humans ; Hypoventilation/genetics* ; Hypoventilation/pathology* ; Magnetic Resonance Imaging ; Male ; Microtubule-Associated Proteins/genetics* ; Middle Aged ; Molecular Sequence Data ; Mutation* ; Parkinsonian Disorders/genetics* ; Parkinsonian Disorders/pathology* ; Positron-Emission Tomography ; Radiopharmaceuticals
Keywords
DCTN1 ; MR volumetry ; Novel mutation ; Perry syndrome ; Positron-emission tomography
Abstract
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 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. RESULTS: We 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. CONCLUSION: Oculomotor 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.
Full Text
http://www.sciencedirect.com/science/article/pii/S1353802014000121
DOI
10.1016/j.parkreldis.2014.01.010
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
Yonsei Authors
Lee, Myung Sik(이명식) ORCID logo https://orcid.org/0000-0002-8413-1854
Lee, Myung Jun(이명준)
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/99686
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