Familial cortical myoclonus (FCM)

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Familial cortical myoclonus (FCM). This is caused by mutations in the NOL3 (nucleolar protein 3) gene. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the NOL3 (nucleolar protein 3) gene
  • This is on chromosome 16q
  • The transmission is autosomal dominant

Clinical features

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References

  1. Macerollo A, Mencacci NE, Erro R, et al. Screening of mutations in NOL3 in a myoclonic syndromes series. J Neurol 2014; 261:1830-1831.
  2. Russell JF, Steckley JL, Coppola G, et al. Familial cortical myoclonus with a mutation in NOL3. Ann Neurol 2012; 72:175–183.

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