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Kennedy's disease: pathogenesis and clinical approaches

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Abstract

Kennedy's disease, also known as spinal and bulbar muscular atrophy, is a progressive degenerative con­dition affecting lower motor neurons. It is one of nine neurodegenerative disorders caused by a polyglutamine repeat expansion. Affecting only men, Kennedy's disease is the only one of these conditions that follows an X-linked mode of inheritance. The causative protein in Kennedy's disease, with a polyglutamine expansion residing in the first N-terminal domain, is the androgen receptor. Research in this field has made significant advances in recent years, and with the increased understanding of pathogenic mechanisms, feasible approaches to treatments are being investigated. In Kennedy's disease research, the most significant issue to emerge recently is the role of androgens in exacerbating the disease process. On the basis of animal experiments, a viable hypothesis is that higher circulating levels of androgens in men could trigger the degeneration of motor neurons causing this disease, and that lower levels in heterozygous and homozygous women are protective. This is a major issue, as treatment of individuals affected by Kennedy's disease with testosterone has been con­sidered a reasonable therapy by some neurologists. The rationale behind this approach relates to the fact that Kennedy's disease is accompanied by mild androgen insensitivity. It was therefore believed that treatment with high doses of testosterone might compensate for this loss of androgen action, with the added benefit of preventing muscle wasting. The current review provides an overview of recent advances in the field of Kennedy's disease research, including approaches to treatment. (Intern Med J 2004; 34: 279−286)
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Keywords: androgen receptor; motor neuron disease; neurodegeneration; polyglutamine repeat expansion; spinal and bulbar ­muscular atrophy

Document Type: Research Article

Affiliations: 1: Centre for Hormone Research, Murdoch Childrens Research Institute, University of Melbourne, Royal Children's Hospital and 2: Department of Medicine, University of Melbourne, Austin Hospital, Melbourne, Victoria, Australia

Publication date: 2004-05-01

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