Choroba Kennedy'ego: ekspansja trójki nukleotydowej CAG.

Translated title of the contribution: Kennedy's disease: expansion of the CAG trinucleotide

I. Domitrz*, M. Jedrzejowska, M. Lipowska, T. Siddique, H. Kwieciński

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

2 Scopus citations

Abstract

Kennedy's disease is a rare X-linked spinal and bulbar muscular atrophy (SBMA). A degenerative process of the motor neurons is associated with an increase in the number of CAG repeats encoding a polyglutamine stretch within the androgen receptor. Despite a distinctive clinical phenotype, SBMA can be misdiagnosed, usually due to the lack of clear family history. Accurate diagnosis is important for genetic counseling and because alternative diagnosis of amyotrophic lateral sclerosis usually means much worse prognosis. We report 2 unrelated patients with Kennedy's disease in whom the clinical diagnosis was confirmed by showing the CAG repeat expansion.

Translated title of the contributionKennedy's disease: expansion of the CAG trinucleotide
Original languagePolish
Pages (from-to)107-114
Number of pages8
JournalNeurologia i neurochirurgia polska
Volume35
Issue number1 Suppl
StatePublished - 2001

ASJC Scopus subject areas

  • Surgery
  • Clinical Neurology

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