Itajaí, Santa Catarina – Azorean ancestry and spinocerebellar ataxia type 3

Teive, Hélio Afonso Ghizoni; Moro, Adriana; Arruda, Walter O.; Raskin, Salmo; Teive, Gladys Mary Ghizoni; Dallabrida, Norberto; Munhoz, Renato P.

doi:10.1590/0004-282x20160125

Cited by 7 publications

(5 citation statements)

References 8 publications

(21 reference statements)

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“…Our findings are similar to those of the Machado-Joseph disease, suggesting an origin of the mutation in the Portugal mainland, which was introduced to the Azores Islands by Portuguese settlers, spreading the mutation to colonies such as Brazil and India 31 , 32 . A cluster of 19 individuals with this disease was identified in Lagoa community, which is near to the KLC2 cluster and three other families here investigated 33 .…”

Section: Discussionsupporting

confidence: 87%

Origin and age of the causative mutations in KLC2, IMPA1, MED25 and WNT7A unravelled through Brazilian admixed populations

Farias

Nunes

Lemes

et al. 2018

Sci Rep

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The mutation age and local ancestry of chromosomal segments harbouring mutations associated with autosomal recessive (AR) disorders in Brazilian admixed populations remain unknown; additionally, inbreeding levels for these affected individuals continue to be estimated based on genealogical information. Here, we calculated inbreeding levels using a runs of homozygosity approach, mutation age and local ancestry to infer the origin of each chromosomal segments containing disorder-causing mutations in KLC2, IMPA1, MED25 and WNT7A. Genotyped data were generated from 18 patients affected by AR diseases and combined to the 1000 genome project (1KGP) and Simons genome diversity project (SGDP) databases to infer local ancestry. We found a major European contribution for mutated haplotypes with recent mutation age and inbreeding values found only in Native American and Middle East individuals. These results contribute to identifying the origin of and to understanding how these diseases are maintained and spread in Brazilian and world populations.

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Section: Discussionsupporting

confidence: 87%

Origin and age of the causative mutations in KLC2, IMPA1, MED25 and WNT7A unravelled through Brazilian admixed populations

Farias

Nunes

Lemes

et al. 2018

Sci Rep

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“…On the other hand, both lineages converge in the Americas, more so, obviously, throughout Brazil with a particular high frequency in the coastal cities of the Santa Catarina state in the south. This area received a large wave of Portuguese immigrants during the middle of the 18th century, coming specifically from the islands of Madeira and Azores because of the serious economic difficulties and constant seismic activity …”

Section: Discussionmentioning

confidence: 99%

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

Teive

Meira

Camargo

et al. 2019

Movement Disord Clin Pract

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

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“…It should be noted that the remaining countries -Argentina, Chile, Venezuela-have a low sample size (n<120), which could increase the actual MJD/SCA3 frequency. Brazil is the country with the highest MJD/SCA3 due to its ancestry from Azorean island families and their founder effect for MJD/SCA3 in South Brazil [23]. Nevertheless, SCA10 predominates in Latin American countries due to Amerindian ancestry, whereas MJD/SCA3 has a low frequency and restricts additional comparison between populations.…”

Section: Discussionmentioning

confidence: 99%

Spinocerebellar Ataxia type 3 is rare in the Peruvian Population

Cornejo‐Olivas¹,

Solis-Ponce²,

Araujo-Aliaga³

et al. 2022

Preprint

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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 with clinical ataxia diagnosis, seven MJD/SCA3 probands were identified and their pedigrees extended, detecting a total of 18(5%) MJD/SCA3 cases. Out of 682 alleles from this cohort, the 23-CAG repeat was the most common ATXN3allele (32.1%), followed by the 14-CAG repeat allele (26%). Normal alleles ranged from 12 to 38 repeats while pathogenic alleles ranged from 61-75 repeats. We identified 101 large normal (LN) alleles (14.8%). 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 an abnormal MJD/SCA3 phenotype was not found. Further haplotypes are required to confirm the foreign origin of MJD/SCA3 in the Peruvian population.

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Itajaí, Santa Catarina – Azorean ancestry and spinocerebellar ataxia type 3

Cited by 7 publications

References 8 publications

Origin and age of the causative mutations in KLC2, IMPA1, MED25 and WNT7A unravelled through Brazilian admixed populations

Origin and age of the causative mutations in KLC2, IMPA1, MED25 and WNT7A unravelled through Brazilian admixed populations

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

Spinocerebellar Ataxia type 3 is rare in the Peruvian Population

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