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NEUROLOGY 2006;67:1236-1241
© 2006 American Academy of Neurology

The contactin 4 gene locus at 3p26 is a candidate gene of SCA16

S. Miura, MD, H. Shibata, PhD, H. Furuya, MD, Y. Ohyagi, MD, M. Osoegawa, MD, Y. Miyoshi, MD, H. Matsunaga, PhD, A. Shibata, MB, N. Matsumoto, BS, A. Iwaki, PhD, T. Taniwaki, MD, H. Kikuchi, MD, J. Kira, MD and Y. Fukumaki, MD

From the Department of Neurology (S.M., Y.O., M.O., Y.M., T.T., H.K., J.K.), Neurological Institute, Graduate School of Medical Sciences, Division of Disease Genes (H.S., H.M., A.S., N.M., A.I., Y.F.), Research Center for Genetic Information, Medical Institute of Bioregulation, Kyushu University, and Department of Neurology (H.F.), Neuro-Muscular Center, National Omuta Hospital, Fukuoka, Japan.

Address correspondence and reprint requests to Dr. S. Miura, Division of Respirology and Neurology, Department of Medicine, Kurume University School of Medicine, 67 Asahimachi, Kurume City, Fukuoka 830-0011, Japan; e-mail: shiroh46{at}med.kurume-u.ac.jp

Objective: To identify of the gene responsible for the onset of spinocerebellar ataxia type 16 (SCA16).

Methods: We reanalyzed the linkage of the original Japanese pedigree using updated information, including three additional subjects. We then screened all exons located in the critical region.

Results: We reassigned the locus of SCA16 to 3p26.2-pter (maximum logarithm-of-odds score = 5.177) and identified only one point mutation (4,256C->T) in the 3' untranslated region of the contactin 4 gene (CNTN4) on chromosome 3p26.2-26.3, which cosegregated with the disease. This mutation was not detected in 520 control subjects; moreover, we revised the phenotype of SCA16 from pure to complicated SCA.

Conclusion: The contactin 4 gene (CNTN4) is associated with cerebellar degeneration in spinocerebellar ataxia type 16. Additional studies are necessary to prove 4,256C->T to be a causative mutation.

Disclosure: The authors report no conflicts of interest.

Received December 27, 2005. Accepted in final form June 13, 2006.




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A Iwaki, Y Kawano, S Miura, H Shibata, D Matsuse, W Li, H Furuya, Y Ohyagi, T Taniwaki, J Kira, et al.
Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16
J. Med. Genet., January 1, 2008; 45(1): 32 - 35.
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