L B Jardim1, M L Pereira, I Silveira, A Ferro, J Sequeiros, R Giugliani. 1. Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Department of Internal Medicine, Universidade Federal do Rio Grande do Sul, Brazil. laurajardim@terra.com.br
Abstract
OBJECTIVE: To examine the clinical, genetic, and molecular characteristics of a group of MJD patients recently identified in the southernmost state of Brazil, and compare these data with studies from the literature. METHODS: Some 62 individuals from 35 families, mostly of Azorean ancestry, had their clinical data and their MJD1 expanded regions examined. RESULTS: The present patients had an earlier age of onset, on average, than Portuguese-Azorean cases. Their survival, proportion of types, average anticipation, proportion of affected versus non-affected siblings, neurological signs and molecular findings are similar to those observed in patients previously described. Type 1 patients with male transmission showed worse anticipations than type 1 patients with female transmission. Patients with type 1 had also larger CAG expansions than other patients. CONCLUSIONS: The Brazilian origin seemed to affect the age of onset. We also noted that there were no differences other than the neurological between types 2 or 3, since both are similar in age of onset, disease duration and length of CAG repeats. We addressed the question of maintaining or not subtypes 2 and 3 separated, among patients with genetic and geographical backgrounds like the presented patients here.
OBJECTIVE: To examine the clinical, genetic, and molecular characteristics of a group of MJDpatients recently identified in the southernmost state of Brazil, and compare these data with studies from the literature. METHODS: Some 62 individuals from 35 families, mostly of Azorean ancestry, had their clinical data and their MJD1 expanded regions examined. RESULTS: The present patients had an earlier age of onset, on average, than Portuguese-Azorean cases. Their survival, proportion of types, average anticipation, proportion of affected versus non-affected siblings, neurological signs and molecular findings are similar to those observed in patients previously described. Type 1 patients with male transmission showed worse anticipations than type 1 patients with female transmission. Patients with type 1 had also larger CAG expansions than other patients. CONCLUSIONS: The Brazilian origin seemed to affect the age of onset. We also noted that there were no differences other than the neurological between types 2 or 3, since both are similar in age of onset, disease duration and length of CAG repeats. We addressed the question of maintaining or not subtypes 2 and 3 separated, among patients with genetic and geographical backgrounds like the presented patients here.
Authors: Caroline Santa Maria Rodrigues; Viviane Ziebell de Oliveira; Gabriela Camargo; Claudio Maria da Silva Osório; Raphael Machado de Castilhos; Maria Luiza Saraiva-Pereira; Lavínia Schuler-Faccini; Laura Bannach Jardim Journal: J Genet Couns Date: 2011-06-30 Impact factor: 2.537
Authors: Roberto Rodríguez-Labrada; Ana Carolina Martins; Jonathan J Magaña; Yaimeé Vazquez-Mojena; Jacqueline Medrano-Montero; Juan Fernandez-Ruíz; Bulmaro Cisneros; Helio Teive; Karen N McFarland; Maria Luiza Saraiva-Pereira; César M Cerecedo-Zapata; Christopher M Gomez; Tetsuo Ashizawa; Luis Velázquez-Pérez; Laura Bannach Jardim Journal: Cerebellum Date: 2020-06 Impact factor: 3.847