A Small Trinucleotide Expansion in the TBP Gene Gives Rise to a Sporadic Case of SCA17 with Abnormal Putaminal Findings on MRI

Mitsunori Watanabe, Natsuki Monai, Mandy Jackson, Yukiko Yamamoto-Watanabe, Yoshio Ikeda, Chieko Suzuki, Masahiko Tomiyama, Takeshi Kawarabayashi, Tamaki Kimura, Yusuke Seino, Yasuhito Wakasaya, Yasuo Miki, Etsuro Matsubara, Mikio Shoji

Research output: Contribution to journalArticlepeer-review

Abstract

A Japanese woman developed gait disturbances at 25 years of age, and subsequently underwent gradual changes in her personality. By the age of 42, she showed clear signs of dementia and cerebellar ataxia, and displayed behavioral abnormalities, choreic movements and hyperreflexia. The findings of MRI not only showed cerebellar and cerebral atrophy, but also revealed putaminal rim hyperintensity on T2-weighted images. We identified a heterozygously expanded CAG/CAA repeat (45/36) within the TATA-binding protein gene, leading to a diagnosis of SCA17. These results show that a 45 CAG/CAA repeat is pathological, giving rise to early-onset SCA17.

Original languageEnglish
Pages (from-to)2179-2182
Number of pages4
JournalInternal Medicine
Volume47
Issue number24
DOIs
Publication statusPublished - 2008

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