CONTEXT: Machado-Joseph disease (MJD/SCA3) is an autosomal dominant cerebellar ataxia of adult onset. The variability in age at onset and the complex and heterogeneous neurologic findings indicate that MJD, caused by a major gene, is modulated by modifier factors. OBJECTIVE: To study if the polymorphic CAG repeats at other loci (namely, SCA2, SCA6 and DRPLA) thus acted as modifier factors of this disease. DESIGN: Case-control. SETTING: Ambulatory care in a referral center. PATIENTS: A convenience sample of 39 unrelated, Brazilian patients with MJD. MAIN OUTCOME MEASURES: age of onset, anticipation, clinical subtypes and neurological findings. RESULTS: Fasciculations were associated with CAG repeat length of the long SCA2 allele (Mann-Whitney U-test, P < 0.03, after Bonferroni procedure). Other measures (age of onset, anticipation, clinical types and other neurological signs) were not associated with CAG repeat length of SCA2, SCA6 and DRPLA genes. CONCLUSIONS: The present results show that the CAG tract of SCA2 gene interferes with MJD phenotype. Further studies, with patients of other origins and with typing of other (CAG)n loci, are necessary.
CONTEXT: Machado-Joseph disease (MJD/SCA3) is an autosomal dominant cerebellar ataxia of adult onset. The variability in age at onset and the complex and heterogeneous neurologic findings indicate that MJD, caused by a major gene, is modulated by modifier factors. OBJECTIVE: To study if the polymorphic CAG repeats at other loci (namely, SCA2, SCA6 and DRPLA) thus acted as modifier factors of this disease. DESIGN: Case-control. SETTING: Ambulatory care in a referral center. PATIENTS: A convenience sample of 39 unrelated, Brazilian patients with MJD. MAIN OUTCOME MEASURES: age of onset, anticipation, clinical subtypes and neurological findings. RESULTS:Fasciculations were associated with CAG repeat length of the long SCA2 allele (Mann-Whitney U-test, P < 0.03, after Bonferroni procedure). Other measures (age of onset, anticipation, clinical types and other neurological signs) were not associated with CAG repeat length of SCA2, SCA6 and DRPLA genes. CONCLUSIONS: The present results show that the CAG tract of SCA2 gene interferes with MJD phenotype. Further studies, with patients of other origins and with typing of other (CAG)n loci, are necessary.
Authors: Fernanda S Pereira; Thais L Monte; Lucas D Locks-Coelho; Amanda S P Silva; Orlando Barsottini; José L Pedroso; Mario Cornejo-Olivas; Pilar Mazzetti; Clecio Godeiro; Fernando R Vargas; Maria-Angélica F D Lima; Hélio van der Linden; Maria Betânia Pereira Toralles; Paula F V Medeiros; Erlane Ribeiro; Pedro Braga-Neto; Diego Salarini; Raphael M Castilhos; Maria-Luiza Saraiva-Pereira; Laura Bannach Jardim Journal: Cerebellum Date: 2015-12 Impact factor: 3.847
Authors: Sophie Tezenas du Montcel; Alexandra Durr; Peter Bauer; Karla P Figueroa; Yaeko Ichikawa; Alessandro Brussino; Sylvie Forlani; Maria Rakowicz; Ludger Schöls; Caterina Mariotti; Bart P C van de Warrenburg; Laura Orsi; Paola Giunti; Alessandro Filla; Sandra Szymanski; Thomas Klockgether; José Berciano; Massimo Pandolfo; Sylvia Boesch; Bela Melegh; Dagmar Timmann; Paola Mandich; Agnès Camuzat; Jun Goto; Tetsuo Ashizawa; Cécile Cazeneuve; Shoji Tsuji; Stefan-M Pulst; Alfredo Brusco; Olaf Riess; Alexis Brice; Giovanni Stevanin Journal: Brain Date: 2014-06-26 Impact factor: 13.501
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
Authors: Raphael Machado de Castilhos; Gabriel Vasata Furtado; Tailise Conte Gheno; Paola Schaeffer; Aline Russo; Orlando Barsottini; José Luiz Pedroso; Diego Z Salarini; Fernando Regla Vargas; Maria Angélica de Faria Domingues de Lima; Clécio Godeiro; Luiz Carlos Santana-da-Silva; Maria Betânia Pereira Toralles; Silvana Santos; Hélio van der Linden; Hector Yuri Wanderley; Paula Frassineti Vanconcelos de Medeiros; Eliana Ternes Pereira; Erlane Ribeiro; Maria Luiza Saraiva-Pereira; Laura Bannach Jardim Journal: Cerebellum Date: 2014-02 Impact factor: 3.847
Authors: A Matilla-Dueñas; T Ashizawa; A Brice; S Magri; K N McFarland; M Pandolfo; S M Pulst; O Riess; D C Rubinsztein; J Schmidt; T Schmidt; D R Scoles; G Stevanin; F Taroni; B R Underwood; I Sánchez Journal: Cerebellum Date: 2014-04 Impact factor: 3.847