论文信息 - Autosomal dominant familial spinal and bulbar muscular atrophy with gynecomastia

Autosomal dominant familial spinal and bulbar muscular atrophy with gynecomastia

Article abstract 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.

[1] F. Micheli,et al. Familial bulbospinal neuronopathy with optic atrophy: a distinct entity. , 1996, Journal of neurology, neurosurgery, and psychiatry.

[2] K. Sakimura,et al. A novel mutation in Cu/Zn superoxide dismutase gene in Japanese familial amyotrophic lateral sclerosis. , 1994, Biochemical and biophysical research communications.

[3] G. Sobue,et al. X-linked recessive bulbospinal neuronopathy. A clinicopathological study. , 1989, Brain : a journal of neurology.

[4] M Alter,et al. Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex-linked recessive trait. , 1968, Neurology.

[5] K. Fischbeck,et al. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy , 1991, Nature.

[6] R A Cooper,et al. Mammography in men. , 1994, Radiology.

[7] T. Nagashima,et al. Familial bulbo-spinal muscular atrophy associated with testicular atrophy and sensory neuropathy (Kennedy-Alter-Sung syndrome) Autopsy case report of two brothers , 1988, Journal of the Neurological Sciences.

[8] S. Yeh,et al. Cloning and characterization of a specific coactivator, ARA70, for the androgen receptor in human prostate cells. , 1996, Proceedings of the National Academy of Sciences of the United States of America.