Spinocerebellar Ataxia Type 10: From Amerindians to Latin Americans

Teive, Hélio Afonso Ghizoni; Ashizawa, Tetsuo

doi:10.1007/s11910-013-0393-9

Cited by 10 publications

(9 citation statements)

References 18 publications

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“…The first humans in the continent, who crossed the Bering Strait from Asia in the Ice Age giving birth to the Amerindians, were later joined by the Vikings in Greenland and Atlantic Northeast, followed by the European settlers and later the Africans and European‐Arabian‐Asian immigrants (Table ). The result is a melting pot, forming a diverse genetic landscape . This, among other factors, may play an important role and influence in the wide range of epidemiological and phenotypic diversity emerging from studies showing population‐specific and region‐specific aspects of SCAs in the continent.…”

Section: Scas–summary Of Genetic Characteristicsmentioning

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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Section: Scas–summary Of Genetic Characteristicsmentioning

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

Self Cite

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“…SCA 10 is a slowly progressive, relatively pure cerebellar ataxia that is often accompanied by generalized seizures (132, 133). The mutation is a pentanucleotide ATTCT expansion (93) residing in an intron of the ATXN10 gene.…”

Section: Introductionmentioning

confidence: 99%

Repeat expansion diseases

Paulson

2018

Handbook of Clinical Neurology

327

286

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More than 40 diseases, most of which primarily affect the nervous system, are caused by expansions of simple sequence repeats dispersed throughout the human genome. Expanded trinucleotide repeat diseases were discovered first and remain the most frequent. More recently tetra-, penta-, hexa-, and even dodeca-nucleotide repeat expansions have been identified as the cause of human disease, including some of the most common genetic disorders seen by neurologists. Repeat expansion diseases include both causes of myotonic dystrophy (DM1 and DM2), the most common genetic cause of amyotrophic lateral sclerosis/frontotemporal dementia (C9ORF72), Huntington disease, and eight other polyglutamine disorders, including the most common forms of dominantly inherited ataxia, the most common recessive ataxia (Friedreich ataxia), and the most common heritable mental retardation (fragile X syndrome). Here I review distinctive features of this group of diseases that stem from the unusual, dynamic nature of the underlying mutations. These features include marked clinical heterogeneity and the phenomenon of clinical anticipation. I then discuss the diverse molecular mechanisms driving disease pathogenesis, which vary depending on the repeat sequence, size, and location within the disease gene, and whether the repeat is translated into protein. I conclude with a brief clinical and genetic description of individual repeat expansion diseases that are most relevant to neurologists.

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“…The first identification of SCA10 in two Mexican families [1,6] revealed the characteristic phenotype of pure cerebellar ataxia associated with seizures. Subsequently, general features of ataxia including gait ataxia, dysarthria, variable limb ataxia, and ocular movement abnormalities have been witnessed in SCA10 positive patients [5,7,8]. Further characterization of new SCA10 families unveiled association with diverse phenotypes like polyneuropathy, pyramidal signs, cognitive impairment and neuropsychiatric disturbance, and even manifestation of ataxia without seizures [5,9].…”

Section: Introductionmentioning

confidence: 99%