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NEUROLOGY 2004;63:1302-1304
© 2004 American Academy of Neurology
Brief Communications

Juvenile form of Alexander disease with GFAP mutation and mitochondrial abnormality

Y. Nobuhara, MD, K. Nakahara, MD, I. Higuchi, MD, T. Yoshida, MD, S. Fushiki, MD, PhD, M. Osame, MD, K. Arimura, MD and M. Nakagawa, MD

From the Department of Neurology and Geriatrics (Drs. Nobuhara, Higuchi, Osame, and Arimura), Kagoshima University Graduate School of Medical and Dental Sciences; Division of Neurology (Drs. Nobuhara and Nakahara), Miyazaki Prefectural Hospital; Department of Neurology and Gerontology (Drs. Yoshida and Nakagawa), Research Institute for Neurological Diseases and Geriatrics, Kyoto Prefectural University of Medicine; and Department of Pathology and Applied Neurobiology (Dr. Fushiki), Kyoto Prefectural University of Medicine Graduate School of Medical Science, Japan.

Address correspondence and reprint requests to Dr. Masanori Nakagawa, Research Institute for Neurologic Diseases and Geriatrics, Department of Neurology and Gerontology, Kyoto Prefectural University of Medicine, Kawaramachi Hirokoji 465, Kamigyo-ku, Kyoto 602–0841, Japan; e-mail: mnakagaw{at}koto.kpu-m.ac.jp

The authors report a 29-year-old woman with marked atrophy of the cerebellum, medulla oblongata, and spinal cord, dementia, diffuse white matter abnormality on MRI, ragged-red fibers, and R88C mutation in the human glial fibrillary acidic protein (GFAP). Mitochondria DNA (mtDNA) analysis showed a rare polymorphism at A8291G. This mtDNA polymorphism, which has been associated with limb-girdle type mitochondrial myopathy, may modify the clinical symptoms of this juvenile form of Alexander disease with GFAP mutation.

Received February 24, 2004. Accepted in final form May 20, 2004.






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