The Geographic Diversity of Spinocerebellar Ataxias (SCAs) in the Americas: A Systematic Review

作者: Hélio A. G. Teive , Alex T. Meira , Carlos Henrique F. Camargo , Renato P. Munhoz

DOI: 10.1002/MDC3.12822

关键词: PortugueseMEDLINEDiversity (politics)DemographyDisease clusterGeographySpinocerebellar ataxiaHereditary AtaxiasEpidemiology

摘要: Background The frequency and presentation of each the most common forms spinocerebellar ataxias (SCAs) varies widely. In case Americas, this diversity is particularly dynamic given additional social, demographic, cultural characteristics. Objective To describe regional prevalence clinical phenotypes SCAs throughout continent. Methods A literature search was performed in both MEDLINE LILACS databases. research broadened to include screening reference lists systematic review articles for studies. Investigations dating from earliest available through 2019. Only studies English, Portuguese, Spanish were included. We analyzed publications with genetically confirmed cases only, ranging robust samples epidemiological data reports series country or regions. Results Overall, SCA3 form Region-specific ranking vary. On other hand, region-specific phenotypic variations not consistently found based on analyzed, exception absence epilepsy SCA10 described a particular cluster South Brazil. Conclusion Systematic, multinational analyzing detail true frequencies across Americas as well distinct signs clues would be ideal look these potential variations.

参考文章(74)
J.J. Magaña, Y.S. Tapia-Guerrero, L. Velázquez-Pérez, C.M. Cerecedo-Zapata, M. Maldonado-Rodríguez, J.S. Jano-Ito, N. Leyva-García, R. González-Piña, E. Martínez-Cruz, O. Hernández-Hernández, B. Cisneros, Analysis of CAG repeats in five SCA loci in Mexican population: epidemiological evidence of a SCA7 founder effect Clinical Genetics. ,vol. 85, pp. 159- 165 ,(2014) , 10.1111/CGE.12114
José Luiz Pedroso, Marcondes C. França, Pedro Braga-Neto, Anelyssa D'Abreu, Maria Luiza Saraiva-Pereira, Jonas A. Saute, Hélio A. Teive, Paulo Caramelli, Laura Bannach Jardim, Iscia Lopes-Cendes, Orlando Graziani P. Barsottini, Nonmotor and extracerebellar features in Machado-Joseph disease: a review. Movement Disorders. ,vol. 28, pp. 1200- 1208 ,(2013) , 10.1002/MDS.25513
Hélio A.G. Teive, Renato Puppi Munhoz, Salmo Raskin, Lineu César Werneck, Spinocerebellar ataxia type 6 in Brazil Arquivos De Neuro-psiquiatria. ,vol. 66, pp. 691- 694 ,(2008) , 10.1590/S0004-282X2008000500015
Adriana Moro, Renato P. Munhoz, Walter O. Arruda, Salmo Raskin, Mariana Moscovich, Hélio A.G. Teive, Spinocerebellar ataxia type 3: subphenotypes in a cohort of brazilian patients Arquivos De Neuro-psiquiatria. ,vol. 72, pp. 659- 662 ,(2014) , 10.1590/0004-282X20140129
Luca Leonardi, Christian Marcotulli, Karen N. McFarland, Alessandra Tessa, Roberto DiFabio, Filippo M. Santorelli, Francesco Pierelli, Tetsuo Ashizawa, Carlo Casali, Spinocerebellar ataxia type 10 in Peru: the missing link in the Amerindian origin of the disease. Journal of Neurology. ,vol. 261, pp. 1691- 1694 ,(2014) , 10.1007/S00415-014-7394-8
Laura Bannach Jardim, Isabel Silveira, Maria Luzia Pereira, Anabela Ferro, Isabel Alonso, Maria do Céu Moreira, Pedro Mendonça, Fátima Ferreirinha, Jorge Sequeiros, Roberto Giugliani, None, A survey of spinocerebellar ataxia in South Brazil - 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease-causing mutations. Journal of Neurology. ,vol. 248, pp. 870- 876 ,(2001) , 10.1007/S004150170072
Karen N. McFarland, Jilin Liu, Ivette Landrian, Desmond Zeng, Salmo Raskin, Mariana Moscovich, Emilia M. Gatto, Adriana Ochoa, Hélio A. G. Teive, Astrid Rasmussen, Tetsuo Ashizawa, Repeat interruptions in spinocerebellar ataxia type 10 expansions are strongly associated with epileptic seizures neurogenetics. ,vol. 15, pp. 59- 64 ,(2014) , 10.1007/S10048-013-0385-6
Luis Velázquez Pérez, Gilberto Sánchez Cruz, Nieves Santos Falcón, Luis Enrique Almaguer Mederos, Karel Escalona Batallan, Roberto Rodríguez Labrada, Milena Paneque Herrera, José Miguel Laffita Mesa, Julio C Rodríguez Díaz, Raúl Aguilera Rodríguez, Yanetza González Zaldivar, Dany Coello Almarales, Dennis Almaguer Gotay, Humberto Jorge Cedeno, None, Molecular epidemiology of spinocerebellar ataxias in Cuba: insights into SCA2 founder effect in Holguin. Neuroscience Letters. ,vol. 454, pp. 157- 160 ,(2009) , 10.1016/J.NEULET.2009.03.015
Yves Agid, Alexis Brice, Didier Smadja, Jean-Claude Vernant, Georges-Gabriel Buisson, Rémy Bellance, Hervé Chneiweiss, Agnès Lezin, Jenny Martial, Géraldine Cancel, Giovanni Stevanin, Alexander Dürr, Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies): genetic analysis of three unrelated SCA2 families. Human Genetics. ,vol. 97, pp. 671- 676 ,(1996) , 10.1007/BF02281881
José Miguel Laffita-Mesa, Peter O. Bauer, Vivian Kourí, Leodani Peña Serrano, Jane Roskams, Dennis Almaguer Gotay, Julio Cesar Montes Brown, Pedro Ariel Martínez Rodríguez, Yanetza González-Zaldívar, Luís Almaguer Mederos, Dany Cuello-Almarales, Jorge Aguiar Santiago, Epigenetics DNA methylation in the core ataxin-2 gene promoter: novel physiological and pathological implications Human Genetics. ,vol. 131, pp. 625- 638 ,(2012) , 10.1007/S00439-011-1101-Y