Androgen receptor gene (CAG)n repeat analysis in the differential diagnosis between Kennedy disease and other motoneuron disorders

A. Ferlini, M. C. Patrosso, D. Guidetti, L. Merlini, A. Uncini, M. Ragno, R. Plasmati, S. Fini, M. Repetto, P. Vezzoni, A. Forabosco

Research output: Contribution to journalArticlepeer-review

Abstract

An increase in the number of (CAG)n repeats in the first coding exon of the androgen receptor (AR) gene has been strongly associated with Kennedy disease (KD) (spinal and bulbar muscular atrophy). This is an X-linked hereditary disorder characterized by motoneuron degeneration occurring in adults together with gynecomastia and hyperestrogenemia. We have performed AR gene molecular analysis in several members of a large family with KD as well as in 25 sporadic patients suffering from heterogeneous motoneuron disease (MND). An increase in the length of the (CAG)n repeats was detected, as expected, in all the affected males and in obligatory carrier females, some of which had minor signs of lower motoneuron involvement. There was only one possible exception, one young male with initial signs of the disease, who had an apparent normal length allele. An increased pathological allele was also found in 3 patients with MND. This indicates that the analysis of (CAG)n repeats of the AR gene plays a role in the differential diagnosis of this heterogenous group of neurological diseases.

Original languageEnglish
Pages (from-to)105-111
Number of pages7
JournalAmerican Journal of Medical Genetics
Volume55
Issue number1
DOIs
Publication statusPublished - 1995

ASJC Scopus subject areas

  • Genetics(clinical)

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