A small trinucleotide expansion in the TBP gene gives rise to a sporadic case of SCA17 with abnormal putaminal findings on MRI.
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.
Watanabe
Mitsunori
M
Department of Neurology, Institute of Brain Science, Hirosaki University Graduate School of Medicine. miwata36@cc.hirosaki-u.ac.jp
Monai
Natsuki
N
Jackson
Mandy
M
Yamamoto-Watanabe
Yukiko
Y
Ikeda
Yoshio
Y
Suzuki
Chieko
C
Tomiyama
Masahiko
M
Kawarabayashi
Takeshi
T
Kimura
Tamaki
T
Seino
Yusuke
Y
Wakasaya
Yasuhito
Y
Miki
Yasuo
Y
Matsubara
Etsuro
E
Shoji
Mikio
M
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*
D035181:TATA-Box Binding Protein; C509817:TBP protein, human