OBJECTIVE: A characteristic feature of spinocerebellar ataxia type 2 (SCA2) is saccadic slowing at early disease stages. We sought to determine whether this sign is detectable before clinical manifestation and quantifies the disease progression throughout life in linear fashion. METHODS: In a specialized ataxia clinic, 54 presymptomatic carriers of SCA2 polyglutamine expansions and 56 relatives without mutation were documented with regard to their maximal saccade velocity (MSV). RESULTS: Among the control individuals, a significant effect of aging on MSV was observed. After elimination of this age influence through a matched-pair approach, a presymptomatic decrease of MSV could be shown. The MSV reduction was stronger in carriers of large expansions. In the years before calculated disease manifestation, the MSV impairment advanced insidiously. CONCLUSION: Saccade velocity is a sensitive SCA2 endophenotype that reflects early pontine degeneration and may be a useful diagnostic parameter before the onset of ataxia. SIGNIFICANCE: Future neuroprotective therapies of polyglutamine neurodegeneration may be assessed by MSV from earliest to prefinal disease stages.
OBJECTIVE: A characteristic feature of spinocerebellar ataxia type 2 (SCA2) is saccadic slowing at early disease stages. We sought to determine whether this sign is detectable before clinical manifestation and quantifies the disease progression throughout life in linear fashion. METHODS: In a specialized ataxia clinic, 54 presymptomatic carriers of SCA2polyglutamine expansions and 56 relatives without mutation were documented with regard to their maximal saccade velocity (MSV). RESULTS: Among the control individuals, a significant effect of aging on MSV was observed. After elimination of this age influence through a matched-pair approach, a presymptomatic decrease of MSV could be shown. The MSV reduction was stronger in carriers of large expansions. In the years before calculated disease manifestation, the MSV impairment advanced insidiously. CONCLUSION: Saccade velocity is a sensitive SCA2 endophenotype that reflects early pontine degeneration and may be a useful diagnostic parameter before the onset of ataxia. SIGNIFICANCE: Future neuroprotective therapies of polyglutamine neurodegeneration may be assessed by MSV from earliest to prefinal disease stages.
Authors: Luis Velázquez-Pérez; Jorge Rodríguez-Chanfrau; Julio Cesar García-Rodríguez; Gilberto Sánchez-Cruz; Raúl Aguilera-Rodríguez; Roberto Rodríguez-Labrada; Julio Cesar Rodríguez-Díaz; Nalia Canales-Ochoa; Dennis Almaguer Gotay; Luis E Almaguer Mederos; José M Laffita Mesa; Marlene Porto-Verdecia; Consuelo González Triana; Noemí Rodríguez Pupo; Idania Hidalgo Batista; Orestes D López-Hernandez; Iverlis Díaz Polanco; Arelis Jayme Novas Journal: Neurochem Res Date: 2011-05-12 Impact factor: 3.996
Authors: Tania Cruz-Mariño; Yaimeé Vázquez-Mojena; Luis Velázquez-Pérez; Yanetza González-Zaldívar; Raúl Aguilera-Rodríguez; Miguel Velázquez-Santos; Annelié Estupiñán-Rodríguez; José Miguel Laffita-Mesa; Luis E Almaguer-Mederos; Milena Paneque Journal: J Community Genet Date: 2015-04-19
Authors: Luis Velázquez-Pérez; Rigoberto González-Piña; Roberto Rodríguez-Labrada; Raul Aguilera-Rodríguez; Lourdes Galicia-Polo; Yaimeé Vázquez-Mojena; Ana M Cortés-Rubio; Marla R Trujillo-Bracamontes; Cesar M Cerecedo-Zapata; Oscar Hernández-Hernández; Bulmaro Cisneros; Jonathan J Magaña Journal: Cerebellum Date: 2014-04 Impact factor: 3.847