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Movement disorders
Research paper
Establishing diagnostic criteria for Perry syndrome
  1. Takayasu Mishima1,2,
  2. Shinsuke Fujioka1,
  3. Hiroyuki Tomiyama3,4,
  4. Ichiro Yabe5,
  5. Ryoichi Kurisaki6,
  6. Naoki Fujii7,
  7. Ryuji Neshige8,
  8. Owen A Ross2,9,
  9. Matthew J Farrer10,
  10. Dennis W Dickson2,
  11. Zbigniew K Wszolek11,
  12. Nobutaka Hattori3,4,
  13. Yoshio Tsuboi1
  1. 1 Department of Neurology, Fukuoka University School of Medicine, Fukuoka, Japan
  2. 2 Department of Neuroscience, Mayo Clinic, Jackonsville, Florida, USA
  3. 3 Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan
  4. 4 Department of Neuroscience for Neurodegenerative Disorders, Juntendo University School of Medicine, Tokyo, Japan
  5. 5 Department of Neurology, Hokkaido University Graduate School of Medicine, Hokkaido, Japan
  6. 6 Department of Neurology, National Hospital Organization Kumamoto Minami National Hospital, Kumamoto, Japan
  7. 7 Department of Neurology, National Hospital Organization Omuta Hospital, Fukuoka, Japan
  8. 8 Neshige Neurological Clinic, Fukuoka, Japan
  9. 9 Department of Clinical Genomics, Mayo Clinic, Jacksonville, Florida, USA
  10. 10 Department of Medical Genetics, University of British Columbia, Vancouver, Canada
  11. 11 Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA
  1. Correspondence to Professor Yoshio Tsuboi, Department of Neurology, Fukuoka University, Fukoka 814-0180, Japan; tsuboi{at}cis.fukuoka-u.ac.jp

Abstract

Objective To establish international diagnostic criteria for Perry syndrome, a disorder characterised by clinical signs of parkinsonism, depression/apathy, weight loss, respiratory symptoms, mutations in the DCTN1 gene and TAR DNA-binding protein 43 (TDP-43) pathology.

Methods Data from the published literature and newly identified patients were gathered and analysed during and after the International Symposium on Perry syndrome in Tokyo to identify diagnostic criteria for Perry syndrome.

Results Eighty-seven patients with Perry syndrome carrying DCTN1 mutations from 20 families were included in this study, and common signs of the disorder were identified, including parkinsonism (95.2% of patients), depression/apathy (71.4%), respiratory symptoms (66.7%) and weight loss (49.2%).

Conclusions Based on our findings, we propose the following definitive diagnostic criteria for Perry syndrome: the presence of four cardinal signs of Perry syndrome, accompanied by a mutation in DCTN1; or a family history of the disease, parkinsonism and a mutation in DCTN1; or the presence of four cardinal signs and pathological findings that include nigral neuronal loss and TDP-43 pathology. As patients with Perry syndrome present with uniform clinical, genetic and pathological features, we further propose the disorder be termed ‘Perry disease.’

This is an Open Access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/

https://doi.org/10.1136/jnnp-2017-316864

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    Footnotes

    • Contributors TM: execution of the project; analysis and interpretation of data; writing of the first draft. SF and HT: interpretation of data; review and critique. IY, OAR, MJF, DWD, ZKW and NH: review and critique. RK, NF and RN: review and critique; data collection. YT: conception and organisation of the project; execution of the project; analysis and interpretation of data; editing the manuscript.

    • Funding This study was supported by Grants-in-Aid from the Research Committee of CNS Degenerative Diseases and Perry syndrome, the Ministry of Health, Labour and Welfare of Japan (NH, YT and HT, 22140901), Grants-in-Aid from the Research Committee of CNS Degenerative Diseases, Grants-in-Aid for Scientific Research (HT, 21591098; NH, 090052131), for Scientific Research on Priority Areas (NH, 08071510), for Young Scientists (MF, 20790625), Grant-in-Aid for Scientific Research on Innovative Areas (NH, 23111003; MF, 23129506) by the Japanese Ministry of Education, Culture, Sports, Science, and Technology, Grants from Health and Labor Sciences Research (NH, 22140901), and JST, CREST, Grants from JSPS KAKENHI (TM, 26860678), Grants from Establishment of diagnostic criteria for Perry disease, Research on rare and intractable diseases, Health and Labour Sciences Research Grants (YT, TM, SF and NH). The Mayo Clinic is a Morris K. Udall Center of Excellence in Parkinson’s disease Research (DWD, OAR, ZKW, P50 NS072187).

    • Competing interests None declared.

    • Ethics approval Fukuoka University-Medical Ethics Review Board.

    • Provenance and peer review Not commissioned; externally peer reviewed.

    • Press Release Yes. After publication with Japanese