Homozygous 31 trinucleotide repeats in the SCA2 allele are pathogenic for cerebellar ataxia

doi:10.1212/NXG.0000000000000283

. 2018 Oct 16;4(6):e283.

doi: 10.1212/NXG.0000000000000283. eCollection 2018 Dec.

Homozygous 31 trinucleotide repeats in the SCA2 allele are pathogenic for cerebellar ataxia

Maya Tojima¹, Gaku Murakami¹, Rie Hikawa¹, Hodaka Yamakado¹, Hirofumi Yamashita¹, Ryosuke Takahashi¹, Masaru Matsui¹

Affiliations

Affiliation

¹ Department of Neurology (M.T., M.M.), Otsu Red Cross Hospital; Department of Neurology (M.T., R.H., H. Yamakado, H. Yamashita, R.T.), Kyoto University Hospital, Otsu, Japan; Murakami Clinic (G.M.), Kyoto, Japan; Department of Neurology (H. Yamashita), Japanese Red Cross Wakayama Medical Center, Wakayama, Japan.

PMID: 30533529
PMCID: PMC6244019
DOI: 10.1212/NXG.0000000000000283

Homozygous 31 trinucleotide repeats in the SCA2 allele are pathogenic for cerebellar ataxia

Maya Tojima et al. Neurol Genet. 2018.

. 2018 Oct 16;4(6):e283.

doi: 10.1212/NXG.0000000000000283. eCollection 2018 Dec.

Authors

Maya Tojima¹, Gaku Murakami¹, Rie Hikawa¹, Hodaka Yamakado¹, Hirofumi Yamashita¹, Ryosuke Takahashi¹, Masaru Matsui¹

Affiliation

¹ Department of Neurology (M.T., M.M.), Otsu Red Cross Hospital; Department of Neurology (M.T., R.H., H. Yamakado, H. Yamashita, R.T.), Kyoto University Hospital, Otsu, Japan; Murakami Clinic (G.M.), Kyoto, Japan; Department of Neurology (H. Yamashita), Japanese Red Cross Wakayama Medical Center, Wakayama, Japan.

PMID: 30533529
PMCID: PMC6244019
DOI: 10.1212/NXG.0000000000000283

No abstract available

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Figures

**Figure. Pedigree, neuroimaging, and gene analysis**
(A) Family pedigree. (B) Upper. MRI showing atrophy of the cerebellar hemispheres. Lower. N-isopropyl-p-(iodine-123)-iodoamphetamine SPECT showing hypoperfusion in the brainstem and cerebellar hemispheres. (C) Analysis of PCR-amplified products containing CAG repeats in *ATXN2*. Plus (+) and minus (−) indicate positive and negative controls, respectively. Pt indicates sample from the present index case. (D) DNA sequence analysis of CAG repeats in *ATXN2* of the present index case. Arrowheads indicate continuation. Chromatograms in both directions are shown. That in the upper portion is sequence analysis in the 3′ > 5′ direction, while that in the lower portion is the opposite, demonstrating homozygous (CAG)₁₃CAA(CAG)₈CAA(CAG)₈. ALS = amyotrophic lateral sclerosis.

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Comment in

The complex structure of ATXN2 genetic variation.
Pulst SM. Pulst SM. Neurol Genet. 2018 Dec 6;4(6):e299. doi: 10.1212/NXG.0000000000000299. eCollection 2018 Dec. Neurol Genet. 2018. PMID: 30588499 Free PMC article. No abstract available.

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References

1. Giunti P, Sabbadini G, Sweeney MG, et al. . The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates. Brain 1998;121:459–467. - PubMed
1. Gispert S, Twells R, Orozco G, et al. . Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1. Nat Genet 1993;4:295–299. - PubMed
1. Cancel G, Dürr A, Didierjean O, et al. . Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families. Hum Mol Genet 1997;6:709–715. - PubMed
1. Sequeiros J, Seneca S, Martindale J. Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias. Eur J Hum Genet 2010;18:1188–1195. - PMC - PubMed
1. Mariotti C, Gellera C, Grisoli M, Mineri R, Castucci A, Di Donato S. Pathogenic effect of an intermediate-size SCA-6 allele (CAG)(19) in a homozygous patient. Neurology 2001;57:1502–1504. - PubMed

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[1] Giunti P, Sabbadini G, Sweeney MG, et al. . The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates. Brain 1998;121:459–467. - PubMed

[2] Giunti P, Sabbadini G, Sweeney MG, et al. . The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates. Brain 1998;121:459–467. - PubMed

[3] Gispert S, Twells R, Orozco G, et al. . Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1. Nat Genet 1993;4:295–299. - PubMed

[4] Gispert S, Twells R, Orozco G, et al. . Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1. Nat Genet 1993;4:295–299. - PubMed

[5] Cancel G, Dürr A, Didierjean O, et al. . Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families. Hum Mol Genet 1997;6:709–715. - PubMed

[6] Cancel G, Dürr A, Didierjean O, et al. . Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families. Hum Mol Genet 1997;6:709–715. - PubMed

[7] Sequeiros J, Seneca S, Martindale J. Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias. Eur J Hum Genet 2010;18:1188–1195. - PMC - PubMed

[8] Sequeiros J, Seneca S, Martindale J. Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias. Eur J Hum Genet 2010;18:1188–1195. - PMC - PubMed

[9] Mariotti C, Gellera C, Grisoli M, Mineri R, Castucci A, Di Donato S. Pathogenic effect of an intermediate-size SCA-6 allele (CAG)(19) in a homozygous patient. Neurology 2001;57:1502–1504. - PubMed

[10] Mariotti C, Gellera C, Grisoli M, Mineri R, Castucci A, Di Donato S. Pathogenic effect of an intermediate-size SCA-6 allele (CAG)(19) in a homozygous patient. Neurology 2001;57:1502–1504. - PubMed

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Homozygous 31 trinucleotide repeats in the SCA2 allele are pathogenic for cerebellar ataxia

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Homozygous 31 trinucleotide repeats in the SCA2 allele are pathogenic for cerebellar ataxia

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