Kennedy's disease: clinical and molecular study of two Italian families.

D. Pareyson, B. Castellotti, S. Botti, C. A. Defanti, C. Gellera, F. Taroni, A. Sghirlanzoni

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Abstract

Kennedy's disease, or spinal and bulbar muscular atrophy (SBMA), is a rare X-linked motoneuron disorder with variable signs of androgen insensitivity. It is associated with the expansion of a trinucleotide CAG repeat within the androgen receptor (AR) gene. We here report our clinical and molecular findings in two Italian families with Kennedy's disease. The increased size of the CAG repeat was demonstrated in four affected males and seven carrier females.

Original languageEnglish
Pages (from-to)467-471
Number of pages5
JournalItalian Journal of Neurological Sciences
Volume16
Issue number7
Publication statusPublished - Oct 1995

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ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

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