Spinocerebellar ataxia type 10: common haplotype and disease progression rate in Peru and Brazil

Gheno, Tailise Conte; Furtado, Gabriel Vasata; Saute, Jonas Alex Morales; Donis, Karina Carvalho; Fontanari, Anna Martha Vaitses; Emmel, V.E.; Pedroso, José Luiz; Barsottini, Orlando Graziani Póvoas; Godeiro-Júnior, Clécio; Linden, Hélio van der; Pereira, Eliana Ternes; Cintra, Vívian Pedigone; Marques, Wilson; Castilhos, Raphael Machado; Alonso, Isabel; Sequeiros, Jorge; Cornejo‐Olivas, Mario; Mazzetti, Pilar; Leotti, Vanessa Bielefeldt; Jardim, Laura Bannach; Saraiva‐Pereira, Maria Luiza

doi:10.1111/ene.13281

Cited by 14 publications

(8 citation statements)

References 37 publications

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“…In Peru, information on specific forms of SCAs and their prevalence is becoming more appreciable during the past years. SCA10 seems to be the most frequent form, occurring in more than 20% of cases, followed by either SCA2, detected in 7.8% of a sample of 231 cases, or SCA3, diagnosed in 9.7% of a smaller sample of 31 patients with dominant ataxias . The cases of SCA2 present with features common to what has been described worldwide; however, the SCA10 cases present much less frequently with epilepsy (if compared with Mexican cases), and no evidence of peripheral neuropathy (similar to Brazilian patients) .…”

Section: Resultsmentioning

confidence: 93%

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: Resultsmentioning

confidence: 93%

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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“…Sixth, the origin of expanded alleles varies across repeats. For example, single common ancestors had a pathogenic amplification of ATTCT repeats in SCA10 (55)(56)(57), CCTG repeats in DM2 (58), and TTTTA/TTTCA repeats in FAME3 (32). Contrastingly, de novo repeat expansions were reported for the CAG repeat in HD (59), the CGG repeat in fragile X syndrome (60), and the GCN repeat in hand-foot-genital (HFG) syndrome (61).…”

mentioning

confidence: 99%

On the wrong DNA track: Molecular mechanisms of repeat-mediated genome instability

Khristich

Mirkin

2020

Journal of Biological Chemistry

212

239

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Expansions of simple tandem repeats are responsible for almost 50 human diseases, the majority of which are severe, degenerative, and not currently treatable or preventable. In this review, we first describe the molecular mechanisms of repeat-induced toxicity, which is the connecting link between repeat expansions and pathology. We then survey alternative DNA structures that are formed by expandable repeats and review the evidence that formation of these structures is at the core of repeat instability. Next, we describe the consequences of the presence of long structure-forming repeats at the molecular level: somatic and intergenerational instability, fragility, and repeat-induced mutagenesis. We discuss the reasons for gender bias in intergenerational repeat instability and the tissue specificity of somatic repeat instability. We also review the known pathways in which DNA replication, transcription, DNA repair, and chromatin state interact and thereby promote repeat instability. We then discuss possible reasons for the persistence of disease-causing DNA repeats in the genome. We describe evidence suggesting that these repeats are a payoff for the advantages of having abundant simple-sequence repeats for eukaryotic genome function and evolvability. Finally, we discuss two unresolved fundamental questions: (i) why does repeat behavior differ between model systems and human pedigrees, and (ii) can we use current knowledge on repeat instability mechanisms to cure repeat expansion diseases?

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“…A longitudinal study was performed using a large number of SCA2 symptomatic carriers; this study had sufficient power to detect changes in the natural history as never seen before (Pereira et al , 2015; Monte et al , 2017a,b,c). Of note, identification of several SCA10 families – a disorder limited to the Americas – brought to light ancestral origins of this condition (Gheno et al , 2017; Bampi et al , 2017).…”

Section: Neurogenetics Network (Rede Neurogenética)mentioning

confidence: 99%

Information and Diagnosis Networks – tools to improve diagnosis and treatment for patients with rare genetic diseases

Vieira¹,

Trapp

Souza

et al. 2019

Genet. Mol. Biol.

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Brazil is a country of continental dimensions and most genetic services are concentrated in the Southeast and South, including the Medical Genetics Service of the Hospital de Clínicas de Porto Alegre (MGS/HCPA). As many areas on the country do not have adequate medical genetics support, networks were designed to extend the service of the MGS/HCPA reference center. This paper presents the information and diagnosis networks that have their headquarters at MGS/HCPA: SIAT (National Information System on Teratogenic Agents), SIEM (Information Service on Inborn Errors of Metabolism), Alô Genética (Hello Genetics - Medical Genetics Information Service for Primary Health Care Professionals); Rede MPS Brasil (MPS-Mucopolysaccharidosis Brazil Network); Rede EIM Brasil (IEM-Inborn Errors of Metabolism Brazil Network), Rede NPC Brasil (Niemann-Pick C - NPC Brazil Network), Rede DLD Brasil (LSD-Lysosomal Storage Disorders Brazil Network), Rede DXB (MSUD-Maple Syrup Urine Disease Network), RedeBRIM (Brazilian Network of Reference and Information in Microdeletion Syndromes Project), Rede Neurogenética (Neurogenetics Network), and Rede Brasileira de Câncer Hereditário (Brazilian Hereditary Cancer Network). These tools are very useful to provide access to a qualified information and/or diagnostic service for specialized and non-specialized health services, bypassing difficulties that preclude patients to access reference centers.

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Spinocerebellar ataxia type 10: common haplotype and disease progression rate in Peru and Brazil

Abstract: The progression rate was slower than in other spinocerebellar ataxias. A consistently recurrent intragenic haplotype was found, suggesting a common ancestry for most, if not all, patients.

Cited by 14 publications

References 37 publications

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

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

On the wrong DNA track: Molecular mechanisms of repeat-mediated genome instability

Information and Diagnosis Networks – tools to improve diagnosis and treatment for patients with rare genetic diseases

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