Neurology
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Neurology 1999;53:2187
© 1999 American Academy of Neurology
Brief Communications

Autosomal dominant familial spinal and bulbar muscular atrophy with gynecomastia

K. Ikezoe, MD, T. Yoshimura, MD, T. Taniwaki, MD, E. Matsuura, MD, H. Furuya, MD, T. Yamada, MD, K. Nagamatsu, MD and J. Kira, MD

From the Department of Neurology (Drs. Ikezoe, Taniwaki, Furuya, Yamada, and Kira), Neurological Institute, Faculty of Medicine, Kyushu University, Fukuoka, the Department of Neurology (Dr. Yoshimura), Neurological Center, Shimonoseki Kosei Hospital, Shimonoseki, and the Department of Neurology (Drs. Matsuura and Nagamatsu), Oita Prefectural Hospital, Oita, Japan.

Address correspondence and reprint requests to Dr. Jun-ichi Kira, Department of Neurology, Neurological Institute, Faculty of Medicine, Kyushu University 60, 3-1-1 Maidashi, Fukuoka 812-8582, Japan; e-mail: kira@ neuro.med.kyushu-u.ac.jp

The proband, a 53-year-old man, developed progressive spinal and bulbar muscular atrophy and gynecomastia at the age of 50. His father had weakness of lower limbs, and his son had a nasal voice, ocular movement abnormalities, and gynecomastia, whereas two of the proband’s brothers showed either gynecomastia or tongue fasciculations. None of the patients showed any expansion of CAG repeat in the androgen receptor gene or any hormonal abnormality. Thus, this family is affected by a form of autosomal dominant spinal and bulbar muscular atrophy with gynecomastia.

Key words: Spinal and bulbar muscular atrophy—Kennedy’s disease—Motor neuron disease—Autosomal dominant—gynecomastia.






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