Pallidonigral TDP-43 pathology in Perry syndrome

Rapidly progressive familial parkinsonism with central hypoventilation, depression and weight loss (Perry syndrome)—A literature review

DCTN1-related neurodegeneration: Perry syndrome and beyond.

Elucidating the genetics and pathology of Perry syndrome

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.’

https://jnnp.bmj.com/content/jnnp/89/5/482.full.pdf

Establishing diagnostic criteria for Perry syndrome

The authors describe three new cases of this familial form of Parkinson's disease, together with its clinical and histological particularities and pathophysiological basis.

Le Doze F

Papers

[Perry and Purdy's syndrome (familial and fatal parkinsonism with hypoventilation and athymhormia)].