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

doi:10.2169/internalmedicine.47.1499

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 journal › Article › peer-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 language	English
Pages (from-to)	2179-2182
Number of pages	4
Journal	Internal Medicine
Volume	47
Issue number	24
DOIs	https://doi.org/10.2169/internalmedicine.47.1499
Publication status	Published - 2008

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Watanabe, M., Monai, N., Jackson, M., Yamamoto-Watanabe, Y., Ikeda, Y., Suzuki, C., Tomiyama, M., Kawarabayashi, T., Kimura, T., Seino, Y., Wakasaya, Y., Miki, Y., Matsubara, E., & Shoji, M. (2008). A Small Trinucleotide Expansion in the TBP Gene Gives Rise to a Sporadic Case of SCA17 with Abnormal Putaminal Findings on MRI. Internal Medicine, 47(24), 2179-2182. https://doi.org/10.2169/internalmedicine.47.1499

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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.",

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

year = "2008",

doi = "10.2169/internalmedicine.47.1499",

language = "English",

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pages = "2179--2182",

journal = "Internal Medicine",

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Watanabe, M, Monai, N, Jackson, M, Yamamoto-Watanabe, Y, Ikeda, Y, Suzuki, C, Tomiyama, M, Kawarabayashi, T, Kimura, T, Seino, Y, Wakasaya, Y, Miki, Y, Matsubara, E & Shoji, M 2008, 'A Small Trinucleotide Expansion in the TBP Gene Gives Rise to a Sporadic Case of SCA17 with Abnormal Putaminal Findings on MRI', Internal Medicine, vol. 47, no. 24, pp. 2179-2182. https://doi.org/10.2169/internalmedicine.47.1499

TY - JOUR

T1 - A Small Trinucleotide Expansion in the TBP Gene Gives Rise to a Sporadic Case of SCA17 with Abnormal Putaminal Findings on MRI

AU - Watanabe, Mitsunori

AU - Monai, Natsuki

AU - Jackson, Mandy

AU - Yamamoto-Watanabe, Yukiko

AU - Ikeda, Yoshio

AU - Suzuki, Chieko

AU - Tomiyama, Masahiko

AU - Kawarabayashi, Takeshi

AU - Kimura, Tamaki

AU - Seino, Yusuke

AU - Wakasaya, Yasuhito

AU - Miki, Yasuo

AU - Matsubara, Etsuro

AU - Shoji, Mikio

PY - 2008

Y1 - 2008

N2 - 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.

AB - 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.

U2 - 10.2169/internalmedicine.47.1499

DO - 10.2169/internalmedicine.47.1499

M3 - Article

SN - 1349-7235

VL - 47

SP - 2179

EP - 2182

JO - Internal Medicine

JF - Internal Medicine

IS - 24

ER -

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

Abstract

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