Kennedy disease (SBMA): investigations

Evidence-based neurology checklist on kennedy disease (sbma): investigations: Genetics Kennedy disease is caused by an androgen receptor (AR) gene mutation This results in CAG repeat expansions There is no genetic anticipation Onset is in adolescence UBA1 gene mutations have also been reported in…

Genetics

  • Kennedy disease is caused by an androgen receptor (AR) gene mutation
  • This results in CAG repeat expansions
  • There is no genetic anticipation
  • Onset is in adolescence
  • UBA1 gene mutations have also been reported in those without AR gene mutations

CAG repeat expansion sizes

Muscle enzymes elevated

Magnetic resonance imaging (MRI)

Positron emission tomography (PET) scan

Blood tests

Investigational treatments

Synonym

References

  1. Bertorini TE. Neuromuscular Case Studies. Butterworth Heinemann Philadelphia. 2008 p258.
  2. Khani M, Nafissi S, Shamshiri H, et al. Identification of UBA1 as the causative gene of an X-linked non-Kennedy spinal-bulbar muscular atrophy. Eur J Neurol 2022; 29:3556-3563.
  3. Kassubek J, Juengling FD, Sperfeld A-D. Widespread white matter changes in Kennedy disease: a voxel based morphometry study. JNNP 2007; 78:1209-1212.
  4. Lai TH, Liu RS, Yang BH, Wang PS, Lin KP, Lee YC, Soong BW. Cerebral involvement in spinal and bulbar muscular atrophy (Kennedy's disease): a pilot study of PET. J Neurol Sci 2013; 335:139-144.
  5. Querin G, Bertolin C, Da Re E, et al; Italian Study Group on Kennedy's disease. Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients. JNNP 2016; 87:810-816.
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