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Spinocerebellar ataxia type 12 identified in two Italian families may mimic sporadic ataxia

Authors

  • Alessandro Brussino MD,

    1. Department of Genetics, Biology and Biochemistry, University of Torino, and S.C.D.U. Medical Genetics, A.O.U. San Giovanni Battista, Torino, Italy
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  • Claudio Graziano MD,

    1. U.O. Medical Genetics, S. Orsola-Malpighi Hospital, and Department of Gynecological, Obstetric and Pediatric Sciences, University of Bologna, Italy
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  • Dario Giobbe MD,

    1. Neurology III, A.O.U. San Giovanni Battista, and Department of Neurosciences, University of Torino, Torino, Italy
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  • Marina Ferrone BSc,

    1. Department of Genetics, Biology and Biochemistry, University of Torino, and S.C.D.U. Medical Genetics, A.O.U. San Giovanni Battista, Torino, Italy
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  • Elisa Dragone MSc,

    1. Department of Genetics, Biology and Biochemistry, University of Torino, and S.C.D.U. Medical Genetics, A.O.U. San Giovanni Battista, Torino, Italy
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  • Carlo Arduino MD,

    1. Department of Genetics, Biology and Biochemistry, University of Torino, and S.C.D.U. Medical Genetics, A.O.U. San Giovanni Battista, Torino, Italy
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  • Raffaele Lodi MD,

    1. MR Spectroscopy Unit, Department of Internal Medicine, Aging and Nephrology, University of Bologna, Bologna, Italy
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  • Caterina Tonon MD,

    1. MR Spectroscopy Unit, Department of Internal Medicine, Aging and Nephrology, University of Bologna, Bologna, Italy
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  • Anna Gabellini MD,

    1. Unit of Neurology, S. Orsola-Malpighi Hospital, University of Bologna, Italy
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  • Rita Rinaldi MD,

    1. Unit of Neurology, S. Orsola-Malpighi Hospital, University of Bologna, Italy
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  • Sara Miccoli MD,

    1. U.O. Medical Genetics, S. Orsola-Malpighi Hospital, and Department of Gynecological, Obstetric and Pediatric Sciences, University of Bologna, Italy
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  • Enrico Grosso MD,

    1. Department of Genetics, Biology and Biochemistry, University of Torino, and S.C.D.U. Medical Genetics, A.O.U. San Giovanni Battista, Torino, Italy
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  • Maria Cristina Bellati MSc,

    1. Department of Genetics, Biology and Biochemistry, University of Torino, and S.C.D.U. Medical Genetics, A.O.U. San Giovanni Battista, Torino, Italy
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  • Laura Orsi MD,

    1. A.O.U. San Giovanni Battista, Department of Neurosciences, Neurology II, Torino, Italy
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  • Nicola Migone MD,

    1. Department of Genetics, Biology and Biochemistry, University of Torino, and S.C.D.U. Medical Genetics, A.O.U. San Giovanni Battista, Torino, Italy
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  • Alfredo Brusco PhD

    Corresponding author
    1. Department of Genetics, Biology and Biochemistry, University of Torino, and S.C.D.U. Medical Genetics, A.O.U. San Giovanni Battista, Torino, Italy
    • Department of Genetics, Biology and Biochemistry, University of Torino, via Santena, 19-10126 Torino, Italy
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  • Potential conflict of interest: Nothing to report.

Abstract

SCA12 is an autosomal dominant cerebellar ataxia characterized by onset in the fourth decade of life with action tremor of arms and head, mild ataxia, dysmetria, and hyperreflexia. The disease is caused by an expansion of ≥51 CAGs in the 5′ region of the brain- specific phosphatase 2 regulatory subunit B-beta isoform (PPP2R2B) gene. SCA12 is very rare, except for a single ethnic group in India. We screened 159 Italian ataxic patients for SCA12 and identified two families that segregated an expanded allele of 57 to 58 CAGs, sharing a common haplotype. The age at onset, phenotype, and variability of symptoms were compatible with known cases. In one family, the disease was apparently sporadic due to possible incomplete penetrance and/or late age at onset. Our data indicate that SCA12 is also present in Italian patients, and its genetic testing should be applied to both sporadic and familial ataxias. © 2010 Movement Disorder Society

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