Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

@article{Spada1991AndrogenRG,
  title={Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy},
  author={Albert R. La Spada and Elizabeth M. Wilson and Dennis B. Lubahn and Anita E. Harding and Kenneth H. Fischbeck},
  journal={Nature},
  year={1991},
  volume={352},
  pages={77-79}
}
X-LINKED spinal and bulbar muscular atrophy (Kennedy's disease) is an adult-onset form of motorneuron disease which may be associated with signs of androgen insensitivity. We have now investigated whether the androgen receptor gene on the proximal long arm of the X chromosome is a candidate gene for this disease. In patient samples we found androgen receptor gene mutations with increased size of a polymorphic tandem CAG repeat in the coding region. These amplified repeats were absolutely… 

Kennedy's disease: genetic diagnosis of an inherited form of motor neuron disease.

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Polymorphic CAG repeat length in the androgen receptor gene and association with neurodegeneration in a heterozygous female carrier of Kennedy’s disease

It is hypothesized that the expression of the Kennedy’s disease mutation combined with a second allele with a large but normal CAG repeat sequence may have contributed to the motor neuron degeneration displayed in the heterozygote female and the possible reasons for phenotypic expression in particular individuals.

Men with Kennedy disease have a reduced risk of androgenetic alopecia

KD is an X‐linked neurodegenerative disease caused by an expansion of a polymorphic tandem CAG repeat within the androgen receptor (AR) gene on chromosomal locus Xq11‐q12 and degree of expansion of this repeat region is correlated with age at onset and disease severity.

X-linked recessive spina and bulbar muscular atrophy: clinical and molecular study of a large family

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No association between the androgen receptor gene CAG repeat and impaired sperm production in Swedish men

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X‐Linked recessive bulbospinal neuronopathy: Clinical phenotypes and cag repeat size in androgen receptor gene

Clinical phenotypes and the CAG repeat size of the androgen receptor gene were assessed in 95 Japanese patients with X‐linked recessive bulbospinal neuronopathy and extensive variation in phenotypic severity in patients with the same size of C AG repeat was present even among the siblings, suggesting that other factors than CAGrepeat size influence the phenotypes.
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