Establishing diagnostic criteria for Perry syndrome

Takayasu Mishima, Shinsuke Fujioka, Hiroyuki Tomiyama, Ichiro Yabe, Ryoichi Kurisaki, Naoki Fujii, Ryuji Neshige, Owen A. Ross, Matthew J. Farrer, Dennis W. Dickson, Zbigniew K. Wszolek, Nobutaka Hattori, Yoshio Tsuboi

Research output: Contribution to journalArticle

13 Scopus citations

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.'

Original languageEnglish (US)
Pages (from-to)482-487
Number of pages6
JournalJournal of neurology, neurosurgery, and psychiatry
Volume89
Issue number5
DOIs
StatePublished - May 1 2018

ASJC Scopus subject areas

  • Surgery
  • Clinical Neurology
  • Psychiatry and Mental health

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    Mishima, T., Fujioka, S., Tomiyama, H., Yabe, I., Kurisaki, R., Fujii, N., Neshige, R., Ross, O. A., Farrer, M. J., Dickson, D. W., Wszolek, Z. K., Hattori, N., & Tsuboi, Y. (2018). Establishing diagnostic criteria for Perry syndrome. Journal of neurology, neurosurgery, and psychiatry, 89(5), 482-487. https://doi.org/10.1136/jnnp-2017-316864