Spinal and Bulbar Muscular Atrophy (SBMA)

Tests Available

Forms and Documents

Test Details

AR
  • Molecular confirmation of a clinical diagnosis
  • PCR Fragment Analysis

Ordering

820
3 weeks
2-5 mL Blood - Lavender Top Tube

Billing

81401x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Adachi et al. (2005) Widespread nuclear and cytoplasmic accumulation of mutant androgen receptor in SBMA patients. Brain 128:659-70.
  2. Atsuta et al. (2006). Natural history of spinal and bulbar muscular atrophy (SBMA): a study of 223 Japanese patients. Brain 129:1446-1455.
  3. Doyu et al. (1992). Severity of X-linked recessive bulbospinal neuronopathy correlates with size of tandem CAG repeat in androgen receptor gene. Ann Neurol 32:707-710.
  4. Grunseich & Fischbeck. (2013) Spinal and bulbar muscular atrophy: pathogenesis and clinical management. Oral Dis 20:6-9.
  5. Kennedy et al. (1968) Progressive proximal spinal and bulbar muscular atrophy of later onset: A sex –linked recessive trait. Neurology 18:671-680.
  6. Kuhlenbaumer et al. (2001) Thirty-seven CAG repeats in the androgen receptor gene in two health individuals. J Neurol 248:23-6.
  7. La Spada. (1999; Updated July 2014) Spinal and Bulbar Muscular Atrophy. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014. Available from: http://www.ncbi.nlm.nih.gov/b
  8. La Spada et al. (2010) Repeat expansion disease: progress and puzzles in disease pathogenesis. Nat Rev Genet 11:247-58.
  9. Li et al. (1998) Nuclear inclusions of the androgen receptor protein in spinal and bulbar muscular atrophy 44: 249-254.
  10. Rhodes et al. (2009). Clinical features of spinal and bulbar muscular atrophy. Brain 157:290-294.
  11. Olney et al., (1991) Clinical and electrodiagnostic features of X-linked recessive bulbospinal neuronopathy. Neuro 41: 823-8.
  12. Soraru et al. (2008) Spinal and bulbar muscular atrophy: skeletal muscle pathology in male patients and heterozygous females. J Neurol Sci 264: 100-105.
  13. Tanaka et al. (1996) Founder effect in spinal and bulbar muscular atrophy (SBMA). Hum Mol Genet 5:1253-7.