Progressive myoclonus ataxia (PMA)

Evidence-based neurology checklist on progressive myoclonus ataxia (pma): Possible causative genetic mutations GOSR2 PRKCG Diagnostic features Occasional features Differential diagnosis: causes of myoclonus and ataxia Investigations Synonym

Possible causative genetic mutations

  • GOSR2
  • PRKCG

Diagnostic features

Occasional features

Differential diagnosis: causes of myoclonus and ataxia

Investigations

Synonym

References

  1. van Egmond ME, Verschuuren-Bemelmans CC, Nibbeling EA, et al. Ramsay Hunt syndrome: clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation. Mov Disord 2014; 29:139-143.
  2. Visser JE, Bloem BR, van de Warrenburg BP. PRKCG mutation (SCA-14) causing a Ramsay Hunt phenotype. Mov Disord 2007; 22:1024-1026.
  3. van der Veen S, Zutt R, Elting JWJ, Becker CE, de Koning TJ, Tijssen MAJ. Progressive myoclonus ataxia: time for a new definition? Mov Disord 2018; 33:1281-1286.
  4. Rossi M, van der Veen S, Merello M, Tijssen MAJ, van de Warrenburg B. Myoclonus-ataxia syndromes: a diagnostic approach. Mov Disord Clin Pract 2020; 8:9-24. 
  5. Fontoura P, Vale J, Lima C, Scaravilli F, Guimaraes J. Progressive myoclonic ataxia and JC virus encephalitis in an AIDS patient. JNNP 2002; 72:653-656.

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