Expanding the Phenotype and Genetic Defects Associated with the GOSR2 Gene

Roman Praschberger, Bettina Balint, Niccolo Emanuele Mencacci, Joshua Hersheson, Ignacio Rubio-Agusti, Dimitri M. Kullmann, Conceição Bettencourt, Kailash Bhatia*, Henry Houlden

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

10 Scopus citations


Background: The homozygous missense mutation c.430G>T (p.G144W) in the GOSR2 gene has been repeatedly shown to cause progressive myoclonus epilepsy/ataxia. Thus far, no other disease associated GOSR2 mutation has been reported. Methods: From epilepsy, movement disorder and genetic clinics 43 patients suffering from progressive myoclonus epilepsy/ataxia were screened for defects in GOSR2, SCARB2 and CSTB. Results: A 61-year-old female patient suffering from progressive myoclonus epilepsy was found to be compound heterozygous for the known c.430G>T and a novel c.491_493delAGA (p.K164del) GOSR2 mutation. This is so far the oldest GOSR2 patient and her disease course seems overall milder. Conclusions: This finding further highlights the GOSR2 gene as a cause of progressive myoclonus epilepsy and expands the genotype for a potentially weaker disease allele.

Original languageEnglish (US)
Pages (from-to)271-273
Number of pages3
JournalMovement Disorders Clinical Practice
Issue number3
StatePublished - Sep 2015


  • GOSR2
  • ataxia
  • myoclonus
  • progressive myoclonus ataxia
  • progressive myoclonus epilepsy

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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