Article
Clinical, pathological and genetic characteristics of Perry disease-new cases and literature review.
European journal of neurology - 1 Dec 2021
Dulski Jarosław, Cerquera-Cleves Catalina, Milanowski Lukasz, Kidd Alexa, Sitek Emilia J, Strongosky Audrey, Vanegas Monroy Ana María, Dickson Dennis W, Ross Owen A, Pentela-Nowicka Jolanta, Sławek Jarosław, Wszolek Zbigniew K
Abstract excerpt
BACKGROUND AND PURPOSE: Perry disease (or Perry syndrome) is an autosomal dominant neurodegenerative disorder characterized by parkinsonism, neuropsychiatric symptoms, central hypoventilation, weight loss and distinct TDP-43 pathology. It is caused by mutations of the DCTN1 gene encoding an essential component of axonal transport. The objectives were to provide the current state of knowledge on clinical,...
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