Adult polyglucosan body disease (APBD): clinical features

Evidence-based neurology checklist on adult polyglucosan body disease (apbd): clinical features: Genetics This is adult form of Andersen disease (GSD type IV) It is caused by mutations in the glycogen branching enzyme 1 (GBE1) gene mutation The transmission is autosomal recessive The onset is in…

Genetics

  • This is adult form of Andersen disease (GSD type IV)
  • It is caused by mutations in the glycogen branching enzyme 1 (GBE1) gene mutation
  • The transmission is autosomal recessive
  • The onset is in the sixth to seventh decades
  • It usually occurs in Ashkenazi Jews

Central neurological features

Peripheral neurological features

Differential diagnosis

Synonyms

References

  1. Mochel F, Schiffman R, Steenweg ME, et al. Adult polyglucosan body disease: natural history and key magnetic resonance imaging findings. Ann Neurol 2012; 72:433-441.
  2. Robertson NP, Wharton S, Anderson J, Scolding NJ. Adult polyglucosan body disease associated with an extrapyramidal syndrome. JNNP 1998; 65:788-790.
  3. Sindern E, Ziemssen F, Ziemssen T, et al. Adult polyglucosan body disease: a postmortem correlation study. Neurology 2003; 61:263-265. 
  4. Lossos A, Meiner Z, Barash V, et al. Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene. Ann Neurol 1998; 44:867-872.
  5. Hussain A, Armistead J, Gushulak L, et al. The adult polyglucosan body disease mutation GBE1 c.1076A>C occurs at high frequency in persons of Ashkenazi Jewish background. Biochem Biophys Res Commun 2012; 426:286-288. 
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