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Neurology 2000;54:491
© 2000 American Academy of Neurology
Brief Communications

An interrupted 34-CAG repeat SCA-2 allele in patients with sporadic spinocerebellar ataxia

S. Costanzi-Porrini, PhD, D. Tessarolo, MD, C. Abbruzzese, PhD, M. Liguori, MD, T. Ashizawa, MD and M. Giacanelli, MD

From the Department of Neurosciences (Drs. Costanzi-Porrini, Tessarolo, Abbruzzese, Liguori, and Giacanelli), San Camillo Hospital, Rome, Italy; and Department of Neurology, Baylor College of Medicine, and VAMC (Dr. Ashizawa), Houston, TX.

Address correspondence and reprint requests to Dr. Tetsuo Ashizawa, Department of Neurology, Baylor College of Medicine, One Baylor Plaza, SM1801, Houston, TX 77030.

In spinocerebellar ataxia type 2 (SCA-2), a difference of three CAG repeats distinguishes normal alleles (14 to 31 repeats) from pathogenic alleles (34 to 57 repeats). All sequenced pathogenic alleles have a pure CAG repeat structure, whereas interrupted repeats have been seen exclusively in normal alleles. The authors present two patients with sporadic SCA with an interrupted 34-CAG repeat allele, (CAG)24(CAA)(CAG)9, who showed a phenotype compatible with SCA-2. The interrupted allele coding for a 34 pure polyglutamine tract may cause the SCA phenotype.

Key words: SCA-2—CAG—Interrupted repeats—Penetrance




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