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

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...

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Autores principales: Silva, Emanuel, Itzcovich, Tatiana, Niikado, Matías, Caride, Alejandro, Fernández, Elmer Andrés, Vázquez, Juan Carlos, Romorini, Leonardo, Marazita, Mariela, Sevlever, Gustavo, Martinetto, Horacio, Surace, Ezequiel I.
Formato: Artículo
Lenguaje:Español
Publicado: Elsevier Ltd 2022
Materias:
R Medicina (General)
RC0321 Neurociencia. La psiquiatría biológica. Neuropsiquiatría
Acceso en línea:http://pa.bibdigital.ucc.edu.ar/3296/1/A_Silva_Itzcovich_Niikado.pdf
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Producción Académica Universidad Católica de Córdoba (UCCor) de Universidad Católica de Córdoba
id I38-R144-3296
record_format dspace
spelling I38-R144-32962025-04-14T18:07:32Z http://pa.bibdigital.ucc.edu.ar/3296/ Perry disease in an Argentine family due to the DCTN1 p.G67D variant Silva, Emanuel Itzcovich, Tatiana Niikado, Matías Caride, Alejandro Fernández, Elmer Andrés Vázquez, Juan Carlos Romorini, Leonardo Marazita, Mariela Sevlever, Gustavo Martinetto, Horacio Surace, Ezequiel I. R Medicina (General) RC0321 Neurociencia. La psiquiatría biológica. Neuropsiquiatría 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. Elsevier Ltd 2022-04 info:eu-repo/semantics/article info:eu-repo/semantics/closedAccess application/pdf spa http://pa.bibdigital.ucc.edu.ar/3296/1/A_Silva_Itzcovich_Niikado.pdf Silva, Emanuel, Itzcovich, Tatiana, Niikado, Matías, Caride, Alejandro, Fernández, Elmer Andrés ORCID: https://orcid.org/0000-0002-4711-8634 <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 https://www.sciencedirect.com/science/article/pii/S1353802022000670?via%3Dihub info:eu-repo/semantics/altIdentifier/doi/https://doi.org/10.1016/j.parkreldis.2022.03.009
institution Universidad Católica de Córdoba
institution_str I-38
repository_str R-144
collection Producción Académica Universidad Católica de Córdoba (UCCor)
language Español
orig_language_str_mv spa
topic R Medicina (General)
RC0321 Neurociencia. La psiquiatría biológica. Neuropsiquiatría
spellingShingle R Medicina (General)
RC0321 Neurociencia. La psiquiatría biológica. Neuropsiquiatría
Silva, Emanuel
Itzcovich, Tatiana
Niikado, Matías
Caride, Alejandro
Fernández, Elmer Andrés
Vázquez, Juan Carlos
Romorini, Leonardo
Marazita, Mariela
Sevlever, Gustavo
Martinetto, Horacio
Surace, Ezequiel I.
Perry disease in an Argentine family due to the DCTN1 p.G67D variant
topic_facet R Medicina (General)
RC0321 Neurociencia. La psiquiatría biológica. Neuropsiquiatría
description 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.
format Artículo
author Silva, Emanuel
Itzcovich, Tatiana
Niikado, Matías
Caride, Alejandro
Fernández, Elmer Andrés
Vázquez, Juan Carlos
Romorini, Leonardo
Marazita, Mariela
Sevlever, Gustavo
Martinetto, Horacio
Surace, Ezequiel I.
author_facet Silva, Emanuel
Itzcovich, Tatiana
Niikado, Matías
Caride, Alejandro
Fernández, Elmer Andrés
Vázquez, Juan Carlos
Romorini, Leonardo
Marazita, Mariela
Sevlever, Gustavo
Martinetto, Horacio
Surace, Ezequiel I.
author_sort Silva, Emanuel
title Perry disease in an Argentine family due to the DCTN1 p.G67D variant
title_short Perry disease in an Argentine family due to the DCTN1 p.G67D variant
title_full Perry disease in an Argentine family due to the DCTN1 p.G67D variant
title_fullStr Perry disease in an Argentine family due to the DCTN1 p.G67D variant
title_full_unstemmed Perry disease in an Argentine family due to the DCTN1 p.G67D variant
title_sort perry disease in an argentine family due to the dctn1 p.g67d variant
publisher Elsevier Ltd
publishDate 2022
url http://pa.bibdigital.ucc.edu.ar/3296/1/A_Silva_Itzcovich_Niikado.pdf
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