INVESTIGADORES
SURACE Ezequiel Ignacio
artículos
Título:
Perry disease in an Argentine family due to the DCTN1 p.G67D variant
Autor/es:
SILVA, EMANUEL; ITZCOVICH, TATIANA; NIIKADO, MATÍAS; CARIDE, ALEJANDRO; FERNÁNDEZ, ELMER; VÁZQUEZ, JUAN CARLOS; ROMORINI, LEONARDO; MARAZITA, MARIELA; SEVLEVER, GUSTAVO; MARTINETTO, HORACIO; SURACE, EZEQUIEL I.
Revista:
PARKINSONISM & RELATED DISORDERS
Editorial:
ELSEVIER SCI LTD
Referencias:
Año: 2022 vol. 97 p. 63 - 64
ISSN:
1353-8020
Resumen:
We describe the third family worldwide with Perry disease due to the p.G67D variant in DCTN1. The proband started at age 55 with depression/apathy and developed levodopa-irresponsive parkinsonism, in contrast to the two previously reported families. Also, we could demonstrate co-segregation of the variant with the phenotype.
