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NEUROLOGY 2004;63:577-580
© 2004 American Academy of Neurology
Brief Communications

SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma

R. Hirano, MD, H. Takashima, MD PhD, F. Umehara, MD, H. Arimura, MD, K. Michizono, MD, Y. Okamoto, MD, M. Nakagawa, MD, C. F. Boerkoel, MD PhD, J. R. Lupski, MD PhD, M. Osame, MD and K. Arimura, MD

From the Department of Neurology and Geriatrics (Drs. Hirano, Takashima, Umehara, H. Arimura, Michizono, Okamoto, Osame, and K. Arimura), Kagoshima University School of Medicine, Kagoshima, Japan; Department of Neurology and Gerontology (Dr. Nakagawa), Kyoto Prefectural University of Medicine, Kyoto, Japan; and Departments of Molecular and Human Genetics (Drs. Boerkoel and Lupski) and Pediatrics (Dr. Lupski), Baylor College of Medicine, Houston, TX.

Address correspondence and reprint requests to Dr. Hiroshi Takashima, Department of Neurology and Geriatrics, Kagoshima University School of Medicine, 8-35-1 Sakuragaoka, Kagoshima city, Kagoshima, 890-8520 Japan; e-mail: thiroshi{at}m3.kufm.kagoshima-u.ac.jp

The authors report a Japanese family segregating autosomal recessive Charcot-Marie-Tooth disease (CMT) with focally folded myelin, juvenile-onset glaucoma, and a nonsense mutation of SET binding factor 2 (SBF2). The consistent phenotypic features associated with SBF2 mutations are early-onset demyelinating neuropathy, myelin folding, and markedly decreased motor nerve conduction velocities; glaucoma associates with SBF2 nonsense mutations.

Received February 2, 2004. Accepted in final form March 22, 2004.






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