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Human Molecular Genetics, 2001, Vol. 10, No. 14 1441-1448
© 2001 Oxford University Press

SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein

Koichiro Nakamura1,+, Seon-Yong Jeong2, Toshiki Uchihara3, Midori Anno4, Kazuo Nagashima2,5, Toshiko Nagashima6, Shu-ichi Ikeda7, Shoji Tsuji8 and Ichiro Kanazawa1,2

1Department of Neurology, Division of Neuroscience, Graduate School of Medicine, University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan, 2CREST, Japan Science and Technology Corporation, Tokyo, Japan, 3Department of Neuropathology, Tokyo Metropolitan Institute for Neuroscience, 2–6 Musashidai, Fuchu, Tokyo 183-8526, Japan, 4Department of Neurology, Tokyo Metropolitan Matsuzawa Hospital, 2-1-1 Kamikitazawa, Setagaya-ku, Tokyo 156-0057, Japan, 5Laboratory of Molecular and Cellular Pathology, Hokkaido University School of Medicine, Kita 15, Nishi 7, Kita-ku, Sapporo 060-8638, Japan, 6Department of Neurology, Teine Keijinkai Hospital, Sapporo, Japan, 7Third Department of Internal Medicine, School of Medicine, Shinshu University, 3-3-1 Asahi, Matsumoto 390-8621, Japan and 8Department of Neurology, Brain Research Institute, Niigata University, 1 Asahimachi, Niigata 951-8585, Japan

Genetic etiologies of at least 20% of autosomal dominant cerebellar ataxias (ADCAs) have yet to be clarified. We identified a novel spinocerebellar ataxia (SCA) form in four Japanese pedigrees which is caused by an abnormal CAG expansion in the TATA-binding protein (TBP) gene, a general transcription initiation factor. Consequently, it has been added to the group of polyglutamine diseases. This abnormal expansion of glutamine tracts in TBP bears 47–55 repeats, whereas the normal repeat number ranges from 29 to 42. Immunocytochemical examination of a postmortem brain which carried 48 CAG repeats detected neuronal intranuclear inclusion bodies that stained with anti-ubiquitin antibody, anti-TBP antibody and with the 1C2 antibody that recognizes specifically expanded pathological polyglutamine tracts. We therefore propose that this new disease be called SCA17 (TBP disease).

+ To whom correspondence should be addressed. Tel: +81 3 3815 5411; Fax: +81 3 5805 5845; Email: koichiro-tky@umin.ac.jp


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Arch Neurol, April 1, 2002; 59(4): 623 - 629.
[Abstract] [Full Text] [PDF]

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B.P.C. van de Warrenburg, R.J. Sinke, C.C. Verschuuren-Bemelmans, H. Scheffer, E.R. Brunt, P.F. Ippel, J.A. Maat-Kievit, D. Dooijes, N.C. Notermans, D. Lindhout, et al.
Spinocerebellar ataxias in the Netherlands: Prevalence and age at onset variance analysis
Neurology, March 12, 2002; 58(5): 702 - 708.
[Abstract] [Full Text] [PDF]

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C. K. Bailey, I. F. M. Andriola, H. H. Kampinga, and D. E. Merry
Molecular chaperones enhance the degradation of expanded polyglutamine repeat androgen receptor in a cellular model of spinal and bulbar muscular atrophy
Hum. Mol. Genet., March 1, 2002; 11(5): 515 - 523.
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 Proc. Natl. Acad. Sci. USAHome page
A. McCampbell, A. A. Taye, L. Whitty, E. Penney, J. S. Steffan, and K. H. Fischbeck
Histone deacetylase inhibitors reduce polyglutamine toxicity
PNAS, December 6, 2001; (2001) 261400698.
[Abstract] [Full Text] [PDF]

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E. Martin-Aparicio, A. Yamamoto, F. Hernandez, R. Hen, J. Avila, and J. J. Lucas
Proteasomal-Dependent Aggregate Reversal and Absence of Cell Death in a Conditional Mouse Model of Huntington's Disease
J. Neurosci., November 15, 2001; 21(22): 8772 - 8781.
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A. Matilla, C. Gorbea, D. D. Einum, J. Townsend, A. Michalik, C. van Broeckhoven, C. C. Jensen, K. J. Murphy, L. J. Ptacek, and Y.-H. Fu
Association of ataxin-7 with the proteasome subunit S4 of the 19S regulatory complex
Hum. Mol. Genet., November 1, 2001; 10(24): 2821 - 2831.
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 Arch NeurolHome page
R. J. Sinke, E. F. Ippel, C. M. Diepstraten, F. A. Beemer, J. H. J. Wokke, B. J. van Hilten, N. V. A. M. Knoers, H. K. P. van Amstel, and H. P. H. Kremer
Clinical and Molecular Correlations in Spinocerebellar Ataxia Type 6: A Study of 24 Dutch Families
Arch Neurol, November 1, 2001; 58(11): 1839 - 1844.
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C. Zander, J. Takahashi, K. H. El Hachimi, H. Fujigasaki, V. Albanese, A. S. Lebre, G. Stevanin, C. Duyckaerts, and A. Brice
Similarities between spinocerebellar ataxia type 7 (SCA7) cell models and human brain: proteins recruited in inclusions and activation of caspase-3
Hum. Mol. Genet., October 1, 2001; 10(22): 2569 - 2579.
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 Proc. Natl. Acad. Sci. USAHome page
A. McCampbell, A. A. Taye, L. Whitty, E. Penney, J. S. Steffan, and K. H. Fischbeck
Histone deacetylase inhibitors reduce polyglutamine toxicity
PNAS, December 18, 2001; 98(26): 15179 - 15184.
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