Machado Joseph-Disease Is Rare in the Peruvian Population

Mario Cornejo-Olivas, Lesly Solis-Ponce, Ismael Araujo-Aliaga, Karina Milla-Neyra, Olimpio Ortega, Maryenela Illanes-Manrique, Pilar Mazzetti, Carla Manrique-Enciso, Diana Cubas-Montecino, Maria Luiza Saraiva-Pereira, Laura B. Jardim, Elison Sarapura-Castro

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


Spinocerebellar ataxia type 3 or Machado-Joseph disease (MJD/SCA3) is the most prevalent autosomal dominant cerebellar ataxia worldwide, but its frequency varies by geographic region. We describe MJD/SCA3 patients diagnosed in a tertiary healthcare institution in Peru. In a cohort of 341 individuals (253 probands) with clinical ataxia diagnosis, seven MJD/SCA3 probands were identified and their pedigrees extended, detecting a total of 18 MJD/SCA3 cases. Out of 506 alleles from all probands from this cohort, the 23-CAG repeat was the most common ATXN3 allele (31.8%), followed by the 14-CAG repeat allele (26.1%). Normal alleles ranged from 12 to 38 repeats while pathogenic alleles ranged from 64 to 75 repeats. We identified 80 large normal (LN) alleles (15.8%). Five out of seven families declared an affected family member traced back to foreign countries (England, Japan, China, and Trinidad and Tobago). MJD/SCA3 patients showed ataxia, accompanied by pyramidal signs, dysarthria, and dysphagia as well as abnormal oculomotor movements. In conclusion, ATXN3 allelic distribution in non-MJD/SCA3 patients with ataxia is similar to the distribution in normal individuals around the world, whereas LN allele frequency reinforces no correlation with the frequency of MJD/SCA3. Evidence of any atypical MJD/SCA3 phenotype was not found. Furthermore, haplotypes are required to confirm the foreign origin of MJD/SCA3 in the Peruvian population.

Original languageEnglish
Pages (from-to)1192-1199
Number of pages8
Issue number6
StatePublished - Dec 2023
Externally publishedYes

Bibliographical note

Publisher Copyright:
© 2022, The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.


  • ATXN3
  • Allelic distribution
  • MJD/SCA3 phenotype
  • Machado-Joseph disease
  • Peruvian ataxic patients
  • Spinocerebellar ataxia type 3


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