BACKGROUND: A common mitochondrial complex I gene polymorphism (10398G) is reported to be inversely associated with the risk of Parkinson disease. We hypothesized that this variant might have a protective effect on the central nervous system and therefore might delay the onset of symptoms in spinocerebellar ataxia type 2 (SCA2). OBJECTIVE: To assess the association of the 10398G polymorphism with age at onset in Cuban patients with SCA2. DESIGN: Genetic association study. SETTING: Holguin, Cuba. PATIENTS: Forty-six Cuban patients with SCA2. MAIN OUTCOME MEASURES: Presence or absence of the 10398G polymorphism was determined in 46 Cuban patients with SCA2 and early or late onset of symptoms, defined as at least 2 SDs lower than or higher than the mean age at onset for patients with a similarly sized triplet repeat expansion. RESULTS: The polymorphism was present in 11 of 27 Cuban patients with SCA2 and early onset (41%) vs 2 of 19 with late onset (11%) (Fisher exact test; P = .04). CONCLUSION: Contrary to our prediction of a later onset of SCA2 in patients with the 10398G polymorphism, we find that this variant is associated with an earlier age at onset in Cuban patients with SCA2.
BACKGROUND: A common mitochondrial complex I gene polymorphism (10398G) is reported to be inversely associated with the risk of Parkinson disease. We hypothesized that this variant might have a protective effect on the central nervous system and therefore might delay the onset of symptoms in spinocerebellar ataxia type 2 (SCA2). OBJECTIVE: To assess the association of the 10398G polymorphism with age at onset in Cuban patients with SCA2. DESIGN: Genetic association study. SETTING: Holguin, Cuba. PATIENTS: Forty-six Cuban patients with SCA2. MAIN OUTCOME MEASURES: Presence or absence of the 10398G polymorphism was determined in 46 Cuban patients with SCA2 and early or late onset of symptoms, defined as at least 2 SDs lower than or higher than the mean age at onset for patients with a similarly sized triplet repeat expansion. RESULTS: The polymorphism was present in 11 of 27 Cuban patients with SCA2 and early onset (41%) vs 2 of 19 with late onset (11%) (Fisher exact test; P = .04). CONCLUSION: Contrary to our prediction of a later onset of SCA2 in patients with the 10398G polymorphism, we find that this variant is associated with an earlier age at onset in Cuban patients with SCA2.
Authors: S Venkateswaran; K Zheng; M Sacchetti; D Gagne; D L Arnold; A D Sadovnick; S W Scherer; B Banwell; A Bar-Or; D K Simon Journal: Neurology Date: 2011-02-02 Impact factor: 9.910
Authors: Elena Sánchez-Ferrero; Eliecer Coto; Ana I Corao; Marta Díaz; Josep Gámez; Jesús Esteban; Juan F Gonzalo; Samuel I Pascual-Pascual; Adolfo López De Munaín; Germán Morís; Jon Infante; Emilia Del Castillo; Celedonio Márquez; Victoria Alvarez Journal: J Neurol Date: 2011-07-02 Impact factor: 4.849
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: Raymond Y Lo; Karla P Figueroa; Stefan M Pulst; Chi-Ying Lin; Susan Perlman; George Wilmot; Christopher Gomez; Jeremy Schmahmann; Henry Paulson; Vikram G Shakkottai; Sarah Ying; Theresa Zesiewicz; Khalaf Bushara; Michael Geschwind; Guangbin Xia; S H Subramony; Tetsuo Ashizawa; Sheng-Han Kuo Journal: Mov Disord Date: 2014-12-01 Impact factor: 10.338
Authors: Luis Velázquez-Pérez; Roberto Rodríguez-Labrada; Julio Cesar García-Rodríguez; Luis Enrique Almaguer-Mederos; Tania Cruz-Mariño; José Miguel Laffita-Mesa Journal: Cerebellum Date: 2011-06 Impact factor: 3.847
Authors: Antonella Antenora; Carlo Rinaldi; Alessandro Roca; Chiara Pane; Maria Lieto; Francesco Saccà; Silvio Peluso; Giuseppe De Michele; Alessandro Filla Journal: Ann Clin Transl Neurol Date: 2017-08-10 Impact factor: 4.511