Spinocerebellar ataxia type 6 in Brazil

Teive, Hélio A.G.; Munhoz, Renato P.; Raskin, Salmo; Werneck, Lineü Cesar

doi:10.1590/s0004-282x2008000500015

Cited by 18 publications

(17 citation statements)

References 17 publications

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“…Many patients have intense episodes of vertigo before the onset of ataxia, while in others there are intermittent episodes of ataxia (corresponding to episodic ataxia type 2) in parallel with the signs and symptoms of slowly progressive cerebellar ataxia 3,4,47 .…”

Section: Scamentioning

confidence: 99%

“…Generally, SCA 6 evolves slowly and progressively, with the clinical picture first appearing around 50 years of age 3,4,47 .…”

Section: Scamentioning

confidence: 99%

“…Ishikawa et al described the presence of polyglutamine aggregates in both the nucleus and cytoplasm of Purkinje cells in patients with SCA 6 3,4,47 .…”

Section: Scamentioning

confidence: 99%

“…This SCA is characterized genetically by an expansion of a CAG repeat between 21 and 31 units long in the gene responsible for the voltage-dependent calcium channel known as alpha 1 A (CACNA1A4), which was mapped to chromosome 19p13.13 3,4,47 .…”

Section: Scamentioning

confidence: 99%

“…However, in certain regions of Japan, such as the district of Kinski, this type of SCA is the most common form 1,3,4,47 .…”

Section: Scamentioning

confidence: 99%

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Spinocerebellar ataxias

Teive¹

2009

Arq. Neuro-Psiquiatr.

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-Spinocerebellar ataxias (SCAs) constitute a heterogeneous group of neurodegenerative diseases characterized by progressive cerebellar ataxia in association with some or all of the following conditions: ophthalmoplegia, pyramidal signs, movement disorders, pigmentary retinopathy, peripheral neuropathy, cognitive dysfunction and dementia. Objective: To carry out a clinical and genetic review of the main types of SCA. Method: The review was based on a search of the PUBMED and OMIM databases. Results: Thirty types of SCAs are currently known, and 16 genes associated with the disease have been identified. The most common types are SCA type 3, or Machado-Joseph disease, SCA type 10 and SCA types 7, 2, 1 and 6. SCAs are genotypically and phenotypically very heterogeneous. A clinical algorithm can be used to distinguish between the different types of SCAs. Conclusions: Detailed clinical neurological examination of SCA patients can be of great help when assessing them, and the information thus gained can be used in an algorithm to screen patients before molecular tests to investigate the correct etiology of the disease are requested.KEY WORDS: spinocerebellar ataxias, cerebellar atrophy, genotype, phenotype. Ataxias espinocerebelaresResumo -As ataxias espinocerebelares (AECs) compreendem um grupo heterogeneo de enfermidades neurodegenerativas, que se caracterizam pela presença de ataxia cerebelar progressiva, associada de forma variada com oftalmoplegia, sinais piramidais, distúrbios do movimento, retinopatia pigmentar, neuropatia periférica, disfunção cognitiva e demência. Objetivo: Realizar uma revisão clínico-genética dos principais tipos de AECs. Método: A revisão foi realizada através da pesquisa pelo sistema do PUBMED e do OMIM. Resultados: Na atualidade existem cerca de 30 tipos de AECs, com a descoberta de 16 genes. Os tipos mais comuns são a AEC tipo 3, ou doença de Machado-Joseph, a AEC tipo 10, e as AECs tipo 7, 2 1, e 6. As AECs apresentam grande heterogeneidade genotípica e fenotípica. Pode-se utilizar um algoritmo clínico para a pesquisa dos diferentes tipos de AECs. Conclusões: O exame clínico neurológico minucioso nos pacientes com AECs pode auxiliar sobremaneira na avaliação clínica destes pacientes, utilizando-se desta forma de um algoritmo, com os dados clínicos, que pode servir como um instrumento de triagem para a solicitação dos testes de genética molecular, para a correta investigação etiológica.

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Section: Scamentioning

confidence: 99%

“…Generally, SCA 6 evolves slowly and progressively, with the clinical picture first appearing around 50 years of age 3,4,47 .…”

Section: Scamentioning

confidence: 99%

“…Ishikawa et al described the presence of polyglutamine aggregates in both the nucleus and cytoplasm of Purkinje cells in patients with SCA 6 3,4,47 .…”

Section: Scamentioning

confidence: 99%

Section: Scamentioning

confidence: 99%

“…However, in certain regions of Japan, such as the district of Kinski, this type of SCA is the most common form 1,3,4,47 .…”

Section: Scamentioning

confidence: 99%

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Spinocerebellar ataxias

Teive¹

2009

Arq. Neuro-Psiquiatr.

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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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Spinocerebellar Ataxia Type 6: Molecular Mechanisms and Calcium Channel Genetics

Gómez

2018

Polyglutamine Disorders

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Spinocerebellar ataxia (SCA) type 6 is an autosomal dominant disease affecting cerebellar degeneration. Clinically, it is characterized by pure cerebellar dysfunction, slowly progressive unsteadiness of gait and stance, slurred speech, and abnormal eye movements with late onset. Pathological findings of SCA6 include a diffuse loss of Purkinje cells, predominantly in the cerebellar vermis. Genetically, SCA6 is caused by expansion of a trinucleotide CAG repeat in the last exon of longest isoform CACNA1A gene on chromosome 19p13.1-p13.2. Normal alleles have 4-18 repeats, while alleles causing disease contain 19-33 repeats. Due to presence of a novel internal ribosomal entry site (IRES) with the mRNA, CACNA1A encodes two structurally unrelated proteins with distinct functions within an overlapping open reading frame (ORF) of the same mRNA: (1) α1A subunit of P/Q-type voltage gated calcium channel; (2) α1ACT, a newly recognized transcription factor, with polyglutamine repeat at C-terminal end. Understanding the function of α1ACT in physiological and pathological conditions may elucidate the pathogenesis of SCA6. More importantly, the IRES, as the translational control element of α1ACT, provides a potential therapeutic target for the treatment of SCA6.

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Spinocerebellar ataxia type 6 in Brazil

Cited by 18 publications

References 17 publications

Spinocerebellar ataxias

Spinocerebellar ataxias

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

Spinocerebellar Ataxia Type 6: Molecular Mechanisms and Calcium Channel Genetics

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