Childhood‐onset ataxia: Testing for large CAG‐repeats in SCA2 and SCA7
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Cites background from "Childhood‐onset ataxia: Testing for..."
...Indeed, there are examples from the literature wherein certain genic SSRs are known to be associated with various diseases in animals (Zoghbi and Orr, 2000; Mao et al., 2002; Yamada et al., 2002) or pathogenicity/virulence in microbes (Peak et al....
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...Indeed, there are examples from the literature wherein certain genic SSRs are known to be associated with various diseases in animals (Zoghbi and Orr, 2000; Mao et al., 2002; Yamada et al., 2002) or pathogenicity/virulence in microbes (Peak et al., 1996; Grimwood et al., 2001)....
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500 citations
191 citations
Cites background from "Childhood‐onset ataxia: Testing for..."
...For patients with very large CAG-expansions (w200), retinitis pigmentosa (27,28) as frequently found in SCA7 and myoclo- nus-epilepsy as frequently found in DRPLA (29,30) may be part of the SCA2 manifestation....
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...For patients with very large CAG-expansions (w200), retinitis pigmentosa (27,28) as frequently found in SCA7 and myoclonus-epilepsy as frequently found in DRPLA (29,30) may be part of the SCA2 manifestation....
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184 citations
References
1,704 citations
"Childhood‐onset ataxia: Testing for..." refers background or methods in this paper
...As with other trinucleotide repeat disorders, such as Huntington disease, spinal-bulbar muscular atrophy, and dentatorubral pallidoluysian atrophy (DRPLA), the size of CAG expansion in the SCAs shows a negative correlation with age of onset and a direct correlation with severity and rate of progression [Orr et al., 1993; Kawaguchi et al., 1994; Pulst et al., 1996; Zhuchenko et al., 1997; David et al., 1998]....
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...In SCA1, 2, 3, 6, and 7, the CAG encodes a polyglutamine tract, whereas the repeat is not translated in SCA8 or SCA12 [Orr et al., 1993; Kawaguchi et al., 1994; Pulst et al., 1996; Zhuchenko et al., 1997; David et al., 1998; Holmes et al., 1999; Evidente et al., 2000]....
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...Assays for CAG repeat sizes in the SCA1, SCA3, and SCA6 genes also used PCRPAGE with conditions similar to those previously described [Orr et al., 1993; Kawaguchi et al., 1994; Zhuchenko et al., 1997]....
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1,586 citations
"Childhood‐onset ataxia: Testing for..." refers background or methods in this paper
...As with other trinucleotide repeat disorders, such as Huntington disease, spinal-bulbar muscular atrophy, and dentatorubral pallidoluysian atrophy (DRPLA), the size of CAG expansion in the SCAs shows a negative correlation with age of onset and a direct correlation with severity and rate of progression [Orr et al., 1993; Kawaguchi et al., 1994; Pulst et al., 1996; Zhuchenko et al., 1997; David et al., 1998]....
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...In SCA1, 2, 3, 6, and 7, the CAG encodes a polyglutamine tract, whereas the repeat is not translated in SCA8 or SCA12 [Orr et al., 1993; Kawaguchi et al., 1994; Pulst et al., 1996; Zhuchenko et al., 1997; David et al., 1998; Holmes et al., 1999; Evidente et al., 2000]....
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...Assays for CAG repeat sizes in the SCA1, SCA3, and SCA6 genes also used PCRPAGE with conditions similar to those previously described [Orr et al., 1993; Kawaguchi et al., 1994; Zhuchenko et al., 1997]....
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1,558 citations
"Childhood‐onset ataxia: Testing for..." refers background or methods in this paper
...As with other trinucleotide repeat disorders, such as Huntington disease, spinal-bulbar muscular atrophy, and dentatorubral pallidoluysian atrophy (DRPLA), the size of CAG expansion in the SCAs shows a negative correlation with age of onset and a direct correlation with severity and rate of progression [Orr et al., 1993; Kawaguchi et al., 1994; Pulst et al., 1996; Zhuchenko et al., 1997; David et al., 1998]....
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...Assays for CAG repeat sizes in the SCA1, SCA3, and SCA6 genes also used PCRPAGE with conditions similar to those previously described [Orr et al., 1993; Kawaguchi et al., 1994; Zhuchenko et al., 1997]....
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...In SCA1, 2, 3, 6, and 7, the CAG encodes a polyglutamine tract, whereas the repeat is not translated in SCA8 or SCA12 [Orr et al., 1993; Kawaguchi et al., 1994; Pulst et al., 1996; Zhuchenko et al., 1997; David et al., 1998; Holmes et al., 1999; Evidente et al., 2000]....
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1,094 citations
"Childhood‐onset ataxia: Testing for..." refers background or methods in this paper
...Both SCA2 and SCA7 are progressive neurological disorders most commonly seen in adult patients, with age of onset in the 30s to 40s [Pulst et al., 1996; David et al., 1998; Evidente et al., 2000]....
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...As with other trinucleotide repeat disorders, such as Huntington disease, spinal-bulbar muscular atrophy, and dentatorubral pallidoluysian atrophy (DRPLA), the size of CAG expansion in the SCAs shows a negative correlation with age of onset and a direct correlation with severity and rate of progression [Orr et al., 1993; Kawaguchi et al., 1994; Pulst et al., 1996; Zhuchenko et al., 1997; David et al., 1998]....
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...Primers used to amplify the repeat regions were 2A: 50-GGGCCCCTCACCATGTCG and 2B: 50-CGGGCTTGCGGACATTGG for SCA2 [Pulst et al., 1996]; 7A: 50-GTAGGAGCGGAAAGAATGTC and 7B: 50-CCCCGACCGTCGCCATTG for SCA7 (designed in-house)....
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...In SCA1, 2, 3, 6, and 7, the CAG encodes a polyglutamine tract, whereas the repeat is not translated in SCA8 or SCA12 [Orr et al., 1993; Kawaguchi et al., 1994; Pulst et al., 1996; Zhuchenko et al., 1997; David et al., 1998; Holmes et al., 1999; Evidente et al., 2000]....
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489 citations
"Childhood‐onset ataxia: Testing for..." refers background in this paper
...PCR-based assays for other trinucleotide repeats show that the PCR can produce products for alleles containing more than 1,000 repeats, although amplification efficiency declines with increasing repeat size [Pergolizzi et al., 1992; Filla et al., 1996]....
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