Multiple founder effects in spinal and bulbar muscular atrophy (SBMA, Kennedy disease) around the world

@article{Lund2001MultipleFE,
  title={Multiple founder effects in spinal and bulbar muscular atrophy (SBMA, Kennedy disease) around the world},
  author={Annastiina Lund and Bjarne A. Udd and Vesa Juvonen and Peter Munch Andersen and Kristina Cederquist and Mark Davis and Cinzia Gellera and Christina K{\"o}lmel and L. O. Ronnevi and Anne D. Sperfeld and Sven- Asger S{\"o}rensen and Lisbeth Tranebjaerg and Lionel van Maldergem and Mitsunori Watanabe and Markus Weber and Leone Yeung and M. -L. Savontaus},
  journal={European Journal of Human Genetics},
  year={2001},
  volume={9},
  pages={431-436}
}
SBMA (spinal and bulbar muscular atrophy), also called Kennedy disease, is an X-chromosomal recessive adult-onset neurodegenerative disorder caused by death of the spinal and bulbar motor neurones and dorsal root ganglia. Patients may also show signs of partial androgen insensitivity. SBMA is caused by a CAG repeat expansion in the first exon of the androgen receptor (AR) gene on the X-chromosome. Our previous study suggested that all the Nordic patients with SBMA originated from an ancient… CONTINUE READING

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