Spinocerebellar ataxia type 20 is genetically distinct from spinocerebellar ataxia type 5

Lorenzo, Damaris N.; Forrest, Susan M.; Ikeda, Yoshio; Dick, Katherine A.; Ranum, Laura P.W.; Knight, Melanie A.

doi:10.1212/01.wnl.0000247662.05197.59

Cited by 7 publications

(2 citation statements)

References 6 publications

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“…Still in the United States, SCA13 and SCA36 were tested in large samples of patients with undiagnosed sporadic or familial cerebellar ataxia, identifying 4 positive families each (<1%) from 2 distinct ethnic groups: white European and Asian (Japanese and Vietnamese) . SCA14, SCA18, and SCA20 have been described in single families …”

Section: Resultsmentioning

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: Resultsmentioning

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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“…Genetic linkage was found to the pericentromeric region of chromosome 11 ( 11 ). Since this region overlapped the SCA5 disease locus, locus homogeneity was considered, although the SCA5 and SCA20 clinical pictures differ considerably; but subsequent discovery of the SCA5 gene, β-III spectrin ( SPTBN2 ) ( 6 ), allowed the demonstration that the two diseases are genetically distinct ( 13 ).…”

Section: Introductionmentioning

confidence: 99%

A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20

Knight

Hernandez

Diede

et al. 2008

Human Molecular Genetics

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Spinocerebellar ataxia type 20 (SCA20) has been linked to chromosome 11q12, but the underlying genetic defect has yet to be identified. We applied single-nucleotide-polymorphism genotyping to detect structural alterations in the genomic DNA of patients with SCA20. We found a 260 kb duplication within the previously linked SCA20 region, which was confirmed by quantitative PCR and fiber FISH, the latter also showing its direct orientation. The duplication spans ten known and two unknown genes, and is present in all affected individuals in the single reported SCA20 pedigree. While the mechanism whereby this duplication may be pathogenic remains to be established, we speculate that the critical gene within the duplicated segment may be DAGLA, the product of which is normally present at the base of Purkinje cell dendritic spines and contributes to the modulation of parallel fiber-Purkinje cell synapses.

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iPS Cells and Spinocerebellar Ataxia

Shum

Nishimura

2015

Stem Cells in Modeling Human Genetic Diseases

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Spinocerebellar ataxia type 20 is genetically distinct from spinocerebellar ataxia type 5

Cited by 7 publications

References 6 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

A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20

iPS Cells and Spinocerebellar Ataxia

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