Phenotypic manifestations associated with CAG-repeat expansion in the androgen receptor gene in male patients and heterozygous females: A clinical and molecular study of 30 families

Caterina Mariotti, Barbara Castellotti, Davide Pareyson, Daniela Testa, Marica Eoli, Carlo Antozzi, Vincenzo Silani, Roberto Marconi, Frediano Tezzon, Gabriele Siciliano, Corrado Marchini, Cinzia Gellera, Stefano Di Donato

Research output: Contribution to journalArticle

Abstract

Spinal and bulbar muscular atrophy (Kennedy disease) is an adult form of X-linked motor neuron disease caused by the expansion of a polymorphic CAG-repeat sequence in the first exon of the androgen receptor gene. We studied clinical and molecular features of 36 patients and 19 heterozygous females. Phenotypic manifestations and disease severity broadly varied among our spinal and bulbar muscular atrophy patients. The size of CAG expansion significantly influences the age of disease onset, but neither clinical features nor disease severity. The majority of carrier women presented signs of chronic denervation at neurophysiological examination and, in three cases, low-amplitude sensory action potentials were recorded. Notably, a few women developed mild signs of bulbar motor neuron impairment later in life. The identification of a large number of patients by the use of the molecular test further supports the hypothesis that Kennedy disease had been previously underdiagnosed, probably because of the great variability of clinical presentation. Although an early diagnosis may not be crucial for treatment, given the lack of effective therapy, the molecular testing can be of great relevance for disease prognosis and genetic counseling. Copyright (C) 2000 Elsevier Science B.V.

Original languageEnglish
Pages (from-to)391-397
Number of pages7
JournalNeuromuscular Disorders
Volume10
Issue number6
DOIs
Publication statusPublished - Aug 1 2000

Keywords

  • Heterozygous females
  • Motor neuron disease
  • Triplet repeat
  • X-linked spinal and bulbar muscle atrophy

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

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