Machado Joseph-Disease Is Rare in the Peruvian Population

Ichikawa Y, Goto J, Hattori M, Toyoda A, Ishii K, Jeong S-Y, et al. The genomic structure and expression of MJD, the Machado-Joseph disease gene. J Hum Genet. 2001;46:413–22.

Article  PubMed  CAS  Google Scholar 

Bettencourt C, Lima M. Machado-Joseph Disease: from first descriptions to new perspectives. Orphanet J Rare Dis. 2011;6:35.

Article  PubMed  PubMed Central  Google Scholar 

Coutinho P, Andrade C. Autosomal dominant system degeneration in Portuguese families of the Azores Islands: a new genetic disorder involving cerebellar, pyramidal, extrapyramidal and spinal cord motor functions. Neurology. 1978;28:703–703.

Article  PubMed  CAS  Google Scholar 

Moro A, Munhoz RP, Arruda WO, Raskin S, Moscovich M, Teive HAG. Spinocerebellar ataxia type 3: subphenotypes in a cohort of brazilian patients. Arq Neuro-Psiquiatr. 2014;72:659–62.

Article  Google Scholar 

Moro A, Moscovich M, Farah M, Camargo CHF, Teive HAG, Munhoz RP. Nonmotor symptoms in spinocerebellar ataxias (SCAs). Cerebellum Ataxias. 2019;6:12.

Article  PubMed  PubMed Central  Google Scholar 

Martins S, Sequeiros J. Origins and spread of Machado-Joseph disease ancestral mutations events. In: Nóbrega C, Pereira de Almeida L, editors. Polyglutamine Disorders [Internet]. Cham: Springer International Publishing; 2018 [cited 2022 Sep 8]. p. 243–54. Available from: http://link.springer.com/10.1007/978-3-319-71779-1_12.

de Castilhos RM, Furtado GV, Gheno TC, Schaeffer P, Russo A, et al. Spinocerebellar ataxias in Brazil—frequencies and modulating effects of related genes. Cerebellum. 2014;13:17–28.

Article  PubMed  CAS  Google Scholar 

Vale J, Bugalho P, Silveira I, Sequeiros J, Guimarães J, Coutinho P. Autosomal dominant cerebellar ataxia: frequency analysis and clinical characterization of 45 families from Portugal: autosomal dominant cerebellar ataxia: characterization of 45 Portuguese families. Eur J Neurol. 2010;17:124–8.

Article  PubMed  CAS  Google Scholar 

Brusco A, Gellera C, Cagnoli C, Saluto A, Castucci A, Michielotto C, et al. Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families. Arch Neurol. 2004;61:727.

Article  PubMed  Google Scholar 

Bryer A, Krause A, Bill P, Davids V, Bryant D, Butler J, et al. The hereditary adult-onset ataxias in South Africa. J Neurol Sci. 2003;216:47–54.

Article  PubMed  Google Scholar 

Paradisi I, Ikonomu V, Arias S. Spinocerebellar ataxias in Venezuela: genetic epidemiology and their most likely ethnic descent. J Hum Genet. 2016;61:215–22.

Article  PubMed  CAS  Google Scholar 

Miranda CM. Diagnóstico de Ataxia Espinocerebelosa tipo 3 (Enfermedad de Machado-Joseph) en Chile. Rev méd Chile. 2015;143:126–7.

Article  Google Scholar 

Rodríguez-Quiroga SA, Cordoba M, González-Morón D, Medina N, Vega P, Dusefante CV, et al. Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic. Genet Res. 2015;97: e10.

Article  Google Scholar 

Alonso E, Martínez-Ruano L, De Biase I, Mader C, Ochoa A, Yescas P, et al. Distinct distribution of autosomal dominant spinocerebellar ataxia in the Mexican population. Mov Disord. 2007;22:1050–3.

Article  PubMed  Google Scholar 

Velázquez Pérez L, Cruz GS, Santos Falcón N, Enrique Almaguer Mederos L, Escalona Batallan K, Rodríguez Labrada R, et al. Molecular epidemiology of spinocerebellar ataxias in Cuba: insights into SCA2 founder effect in Holguin. Neurosci Lett. 2009;454:157–60.

Article  PubMed  Google Scholar 

Torres Ramirez L, Vélez Rojas M, Mazzetti Soler P, Suárez Reyes R, Cosentino Esquerre C, Mori Quispe N et al. Ataxia espinocerebelosa tipo 3 (Enfermedad de Machado Joseph). A propósito de un caso Diagnóstico. 2012;51(1):33–6.

Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucl Acids Res. 1988;16:1215–1215.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, Katayama S, et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet. 1994;8:221–8.

Article  PubMed  CAS  Google Scholar 

Melo ARV, Ramos A, Kazachkova N, Raposo M, Bettencourt BF, Rendeiro AR, et al. Triplet repeat primed PCR (TP-PCR) in molecular diagnostic testing for spinocerebellar ataxia type 3 (SCA3). Mol Diagn Ther. 2016;20:617–22.

Article  PubMed  CAS  Google Scholar 

Saute JAM, Jardim LB. Machado Joseph disease: clinical and genetic aspects, and current treatment. Expert Opin Orphan Drugs. 2015;3:517–35.

Article  Google Scholar 

Takano H, Cancel G, Ikeuchi T, Lorenzetti D, Mawad R, Stevanin G, et al. Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations. Am J Hum Genet. 1998;63:1060–6.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Cornejo-Olivas M, Castilhos RM, Furtado GV, Mattos EP, Bampi GB, Leistner-Segal S, et al. Genetic analysis of hereditary ataxias in Peru identifies SCA10 families with incomplete penetrance. Cerebellum. 2020;19:208–15.

Article  PubMed  CAS  Google Scholar 

Teive HAG, Moro A, Arruda WO, Raskin S, Teive GMG, Dallabrida N, et al. Itajaí, Santa Catarina – Azorean ancestry and spinocerebellar ataxia type 3. Arq Neuro-Psiquiatr. 2016;74:858–60.

Article  Google Scholar 

Rannala B, Mountain JL. Detecting immigration by using multilocus genotypes. Proc Natl Acad Sci USA. 1997;94:9197–201.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Bonfiglio G. Introducción al estudio de la inmigración europea en el Perú. Apuntes. 1986;18:93–127.

Hu-Dehart E. Coolies, shopkeepers, pioneers: the Chinese of Mexico and Peru (1849–1930). Amerasia J. 1989;15:91–116.

Article  Google Scholar 

Takenaka A. The Japanese in Peru: history of immigration, settlement, and racialization. Lat Am Perspect. 2004;31:77–98.

Article  Google Scholar 

Moro A, Munhoz RP, Arruda WO, Raskin S, Teive HAG. Clinical relevance of “bulging eyes” for the differential diagnosis of spinocerebellar ataxias. Arq Neuro-Psiquiatr. 2013;71:428–30.

Article  Google Scholar 

Franklin GL, Meira AT, Camargo CHF, Nascimento FA, Teive HAG. Upward gaze palsy: a valuable sign to distinguish spinocerebellar ataxias. Cerebellum. 2020;19:685–90.

Article  PubMed  CAS  Google Scholar 

Friedman JH, Fernandez HH, Sudarsky LR. REM behavior disorder and excessive daytime somnolence in Machado-Joseph disease (SCA-3). Mov Disord. 2003;18:1520–2.

Article  PubMed  Google Scholar 

Pedroso JL, França MC, Braga-Neto P, D’Abreu A, Saraiva-Pereira ML, Saute JA, et al. Nonmotor and extracerebellar features in Machado-Joseph disease: a review: extracerebellar features in Machado-Joseph disease. Mov Disord. 2013;28:1200–8.

Article  PubMed  Google Scholar 

Storey E, du Sart D, Shaw JH, Lorentzos P, Kelly L, McKinley Gardner RJ, et al. Frequency of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Australian patients with spinocerebellar ataxia. Am J Med Genet. 2000;95:351–8.

Article  PubMed  CAS  Google Scholar 

Lima M, Costa MC, Montiel R, Ferro A, Santos C, Silva C, et al. Population genetics of wild-type CAG repeats in the Machado-Joseph Disease gene in Portugal. Hum Hered. 2005;60:156–63.

Article  PubMed  CAS  Google Scholar 

Gan S-R, Ni W, Dong Y, Wang N, Wu Z-Y. Population genetics and new insight into range of CAG repeats of spinocerebellar ataxia type 3 in the Han Chinese population. Li X-J, editor. PLoS One. 2015;10:e0134405.

Gonzales-Sáenz C, Cruz-Rodriguez C, Espinoza-Huertas K, Véliz-Otani D, Marca V, Ortega O, et al. Distribution of the CAG triplet repeat in ATXN1, ATXN3, and CACNA1A loci in Peruvian population. Cerebellum. 2020;19:527–35.

Article  PubMed  Google Scholar 

Comments (0)

No login
gif