Article
Perry syndrome: Novel DCTN1 mutation in a large kindred and first observation of prodromal disease.
Parkinsonism & related disorders - 1 Jul 2023
Dulski Jarosław, Koga Shunsuke, Prudencio Mercedes, Tipton Philip W, Ali Shan, Strongosky Audrey J, Rose Juliana H, Parrales Zoe A, Dunmore Judith A, Jansen-West Karen, Petrucelli Leonard, Dickson Dennis W, Wszolek Zbigniew K
Abstract excerpt
INTRODUCTION: Perry syndrome (PS) is a hereditary neurodegenerative disorder caused by mutations in the DCTN1 gene and characterized by TDP-43 pathology. As the diagnosis is usually made at the advanced stages of the disease, there are no studies on the asymptomatic mutation carriers and their conversion to overt disease. METHODS: We personally examined 27 members of the large kindred of 104 individuals with...
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