Perry disease in an Argentine family due to the DCTN1 p.G67D variant.

Emanuel Silva,Tatiana Itzcovich,Matías Niikado, Alejandro Caride,Elmer Fernández,Juan Carlos Vázquez,Leonardo Romorini,Mariela Marazita,Gustavo Sevlever,Horacio Martinetto,Ezequiel I Surace

Parkinsonism & related disorders（2022）

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摘要

Sequence variants in exon 2 of the Dynactin-1 gene (DCTN1) have been reported as causative of Perry (disease) Syndrome (PeD, MIM 168605), a rare neurodegenerative disorder characterized by parkinsonism, psychiatric symptoms, weight loss and hypoventilation [1]. Here, we report the third family with the p.G67D variant in DCTN1.

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