Objective: To propose international diagnostic criteria for Perry syndrome and a new disease concept.

Background: Perry syndrome is a rare autosomal dominant neurodegenerative disease characterised by parkinsonism, depression/apathy, weight loss, and respiratory symptoms. Genetically, mutations in the DCTN1 gene have been reported. Pathologically, Perry syndrome is classified as TAR DNA-binding protein 43 (TDP-43) proteinopathy.

Methods: Data from the published papers and newly identified patients were included and analysed during and after the International Symposium on Perry syndrome in Tokyo from 22 to 23 February 2011 to establish international diagnostic criteria for Perry syndrome.

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

Conclusions: We propose the following diagnostic criteria for Perry syndrome: the presence of four cardinal signs of Perry syndrome with a mutation in DCTN1; or a family history of the disease and parkinsonism with a mutation in DCTN1; or the presence of four cardinal signs and pathological findings that include nigral neuronal loss and TDP-43 pathology. We further propose the nomenclature of ‘Perry disease’ more appropriately rather than syndrome since Perry syndrome patients show uniform clinical, genetic and pathological features.

References: This abstract has been published in J Neurol Neurosurg Psychiatry. 2017 316864.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/perry-syndrome-proposal-of-international-diagnostic-criteria-and-a-new-disease-concept/