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

Silva, Emanuel, Itzcovich, Tatiana, Niikado, Matías, Caride, Alejandro, Fernández, Elmer Andrés ORCID: https://orcid.org/0000-0002-4711-8634, Vázquez, Juan Carlos, Romorini, Leonardo, Marazita, Mariela, Sevlever, Gustavo, Martinetto, Horacio and Surace, Ezequiel I. (2022) Perry disease in an Argentine family due to the DCTN1 p.G67D variant. Parkinsonism and Related Disorders, 97. pp. 63-64. ISSN 1353-8020

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Resumen

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. An Argentine family from the northeastern province of Misiones was evaluated at multiple centers. Three individuals were available for clinical, neuropsychological and genetic testing including the proband (Fig. 1, individual III.2), a symptomatic sister (III.3), and an asymptomatic brother (III.4). All family members and/or caregivers gave their informed consent to participate. This investigation was approved by the Institutional Ethics Committee.

Tipo de documento:	Artículo
DOI:	https://doi.org/10.1016/j.parkreldis.2022.03.009
Palabras clave:	Secuenciación del exoma. Genética. Parkinson.
Temas:	R Medicina > R Medicina (General) R Medicina > RC Medicina interna > RC0321 Neurociencia. La psiquiatría biológica. Neuropsiquiatría
Unidad académica:	Universidad Católica de Córdoba > Unidad Asociada a CONICET
Google Académico:	Ver citaciones
URI:	http://pa.bibdigital.ucc.edu.ar/id/eprint/3296

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