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Establishing diagnostic criteria for Perry syndrome
Takayasu Mishima1,2, Shinsuke Fujioka1, Hiroyuki Tomiyama3,4
1Department of Neurology, Fukuoka University School of Medicine, Fukuoka, Japan.
Journal of Neurology, Neurosurgery, and Psychiatry
|November 2, 2017
Summary
New diagnostic criteria for Perry syndrome, a neurodegenerative disorder, have been established. This research identifies key clinical signs, genetic mutations in DCTN1, and TDP-43 pathology for accurate diagnosis.
Area of Science:
- Neurology
- Genetics
- Pathology
Background:
- Perry syndrome is a rare neurodegenerative disorder.
- It is characterized by parkinsonism, depression, weight loss, and respiratory issues.
- Mutations in the DCTN1 gene and TDP-43 pathology are associated with the disease.
Purpose of the Study:
- To establish international diagnostic criteria for Perry syndrome.
- To unify the understanding of its clinical, genetic, and pathological features.
Main Methods:
- Analysis of published literature and newly identified patients.
- Data gathered during the International Symposium on Perry syndrome in Tokyo.
- Inclusion of 87 patients with DCTN1 mutations from 20 families.
Main Results:
- Common signs include parkinsonism (95.2%), depression/apathy (71.4%), respiratory symptoms (66.7%), and weight loss (49.2%).
- DCTN1 mutations were identified in all studied patients.
- TDP-43 pathology was a consistent finding.
Conclusions:
- Proposed definitive diagnostic criteria include four cardinal signs plus DCTN1 mutation, or family history with parkinsonism and DCTN1 mutation, or cardinal signs with specific pathological findings.
- The uniform features suggest renaming the disorder to 'Perry disease'.
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