title: A small trinucleotide expansion in the TBP gene gives rise to a sporadic case of SCA17 with abnormal putaminal findings on MRI.
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.
authors.affiliation: Department of Neurology, Institute of Brain Science, Hirosaki University Graduate School of Medicine. miwata36@cc.hirosaki-u.ac.jp
authors.forename: Mitsunori
authors.initials: M
authors.lastname: Watanabe
authors.forename: Natsuki
authors.initials: N
authors.lastname: Monai
authors.forename: Mandy
authors.initials: M
authors.lastname: Jackson
authors.forename: Yukiko
authors.initials: Y
authors.lastname: Yamamoto-Watanabe
authors.forename: Yoshio
authors.initials: Y
authors.lastname: Ikeda
authors.forename: Chieko
authors.initials: C
authors.lastname: Suzuki
authors.forename: Masahiko
authors.initials: M
authors.lastname: Tomiyama
authors.forename: Takeshi
authors.initials: T
authors.lastname: Kawarabayashi
authors.forename: Tamaki
authors.initials: T
authors.lastname: Kimura
authors.forename: Yusuke
authors.initials: Y
authors.lastname: Seino
authors.forename: Yasuhito
authors.initials: Y
authors.lastname: Wakasaya
authors.forename: Yasuo
authors.initials: Y
authors.lastname: Miki
authors.forename: Etsuro
authors.initials: E
authors.lastname: Matsubara
authors.forename: Mikio
authors.initials: M
authors.lastname: Shoji
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D011699:Putamen / Q000378:metabolism / Q000473:pathology*; D020754:Spinocerebellar Ataxias / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism*; D035181:TATA-Box Binding Protein / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*
chemical_list: D035181:TATA-Box Binding Protein; C509817:TBP protein, human