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

Research output: Contribution to journalArticle

2 Citations (Scopus)

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 number6
DOIs
Publication statusPublished - Sep 1995

Fingerprint

X-Linked Bulbo-Spinal Atrophy
Atrophic Muscular Disorders
Trinucleotide Repeats
Androgen Receptors
Motor Neurons
Androgens
Genes
Clinical Studies

Keywords

  • Androgen receptor
  • Kennedy's disease
  • Motoneuron disease
  • Spinal and bulbar muscular atrophy
  • Trinucleotide repeats

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology

Cite this

Kennedy's disease : clinical and molecular study of two Italian families. / Pareyson, D.; Castellotti, B.; Botti, S.; Defanti, C. A.; Gellera, C.; Taroni, F.; Sghirlanzoni, A.

In: Italian Journal of Neurological Sciences, Vol. 16, No. 6, 09.1995, p. 467-471.

Research output: Contribution to journalArticle

Pareyson, D. ; Castellotti, B. ; Botti, S. ; Defanti, C. A. ; Gellera, C. ; Taroni, F. ; Sghirlanzoni, A. / Kennedy's disease : clinical and molecular study of two Italian families. In: Italian Journal of Neurological Sciences. 1995 ; Vol. 16, No. 6. pp. 467-471.
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