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

ELSEVIER SCI LTD

Lugar: Amsterdam; Año: 2022 vol. 97

1353-8020

Perry Syndrome (PS) is a rare autosomal dominant neurodegenerative disease characterized by progressive parkinsonism, psychiatric symptoms, weight loss and central hypoventilation. Causative mutations have been identified in exon 2 of the Dynactin-1 gene (DCTN1). Here, we report the first family in Argentina with confirmed PS. The proband started with depression/apathy at age 55, and subsequently developed levodopa- irresponsive parkinsonism, followed by dysphagia, severe weight loss and multiple hypoventilation crises before his death at age 58. Exome sequencing performed on the proband?s genomic DNA revealed the c.200G>A (p.G67D) variant in DCTN1 (NM_004082.4). In contrast to previous reports, we were able to show co-segregation of the variant with the phenotype. To the best of our knowledge, this is the third reported family worldwide with the p.G67D variant in DCTN1.