Normal cognitive functions in Joubert syndrome

A. Poretti, F. Dietrich Alber, F. Brancati, B. Dallapiccola, E. M. Valente, Eugen Boltshauser

Research output: Contribution to journalArticlepeer-review

22 Scopus citations


Developmental delay and subsequent impaired cognitive functions are present in almost all patients with Joubert syndrome (JS). We report on a 20-year-old woman with mild clinical signs of JS (minimal truncal ataxia and oculomotor apraxia) but typical molar tooth sign on neuroimaging, normal full scale (IQ=93), verbal (IQ=93), and performance intelligence quotient (IQ=94). Only minor difficulties in visual-spatial organization and in some executive functions could be detected. This pattern of deficits is partly reminiscent of the cerebellar cognitive affective syndrome. Her diagnosis was only reached following the diagnosis of JS in two brothers with severe cognitive impairment. Molecular investigations demonstrated a homozygous mutation in the INPP5E gene. This exceptional observation confirms that normal cognitive functions are possible in JS and corroborates the well known intrafamilial variability.

Original languageEnglish (US)
Pages (from-to)287-290
Number of pages4
Issue number6
StatePublished - Dec 1 2009


  • Joubert syndrome
  • cerebellar cognitive affective syndrome
  • cognition

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology


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