Expansion of the clinicopathological and mutational spectrum of Perry syndrome

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

Research output: Contribution to journalArticle

9 Citations (Scopus)

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: 18F-fluorinated N-3-fluoropropyl-2-ß-carboxymethoxy-3-β-(4-iodophenyl) nortropane ([18F]FP-CIT) PET, [18F]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, [18F]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.

Original languageEnglish
Pages (from-to)388-393
Number of pages6
JournalParkinsonism and Related Disorders
Volume20
Issue number4
DOIs
Publication statusPublished - 2014 Jan 1

Fingerprint

Parkinsonian Disorders
Neuroimaging
Nortropanes
Depression
Apathy
Hypoventilation
Parietal Lobe
Dopamine Plasma Membrane Transport Proteins
Mutation
Gyrus Cinguli
Fluorodeoxyglucose F18
Levodopa
Paralysis
Cerebral Cortex
Weight Loss
Genes
Perry Syndrome
2-carbomethoxy-8-(3-fluoropropyl)-3-(4-iodophenyl)tropane
Therapeutics

Keywords

  • DCTN1
  • MR volumetry
  • Novel mutation
  • Perry syndrome
  • Positron-emission tomography

ASJC Scopus subject areas

  • Geriatrics and Gerontology
  • Clinical Neurology
  • Neurology

Cite this

Chung, E. J., Hwang, J. H., Lee, M. J., Hong, J. H., Ji, K. H., Yoo, W. K., ... Kim, Y. J. (2014). Expansion of the clinicopathological and mutational spectrum of Perry syndrome. Parkinsonism and Related Disorders, 20(4), 388-393. https://doi.org/10.1016/j.parkreldis.2014.01.010

Expansion of the clinicopathological and mutational spectrum of Perry syndrome. / 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.

In: Parkinsonism and Related Disorders, Vol. 20, No. 4, 01.01.2014, p. 388-393.

Research output: Contribution to journalArticle

Chung, EJ, Hwang, JH, Lee, MJ, Hong, JH, Ji, KH, Yoo, WK, Kim, SJ, Song, HK, Lee, CS, Lee, MS & Kim, YJ 2014, 'Expansion of the clinicopathological and mutational spectrum of Perry syndrome', Parkinsonism and Related Disorders, vol. 20, no. 4, pp. 388-393. https://doi.org/10.1016/j.parkreldis.2014.01.010
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. / Expansion of the clinicopathological and mutational spectrum of Perry syndrome. In: Parkinsonism and Related Disorders. 2014 ; Vol. 20, No. 4. pp. 388-393.
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