Joubert syndrome with bilateral polymicrogyria: Clinical and neuropathological findings in two brothers

L. Giordano, A. Vignoli, L. Pinelli, F. Brancati, P. Accorsi, F. Faravelli, R. Gasparotti, T. Granata, G. Giaccone, F. Inverardi, C. Frassoni, B. Dallapiccola, E. M. Valente, R. Spreafico

Research output: Contribution to journalArticle


Joubert syndrome (JS) is characterized by hypotonia, ataxia, developmental delay, and a typical neuroimaging finding, the socalled "molar tooth sign" (MTS). The association of MTS and polymicrogyria (PMG) has been reported as a distinct JS-related disorder (JSRD). So far, five patients have been reported with this phenotype, only two of them being siblings. We report on one additional family, describing a living childwith JS and PMG, and the corresponding neuropathological picture in the aborted brother. No mutations were detected in the AHI1 gene, the only so far associated with the JS+PMG phenotype. Moreover, linkage analysis allowed excluding all known gene loci, suggesting further genetic heterogeneity.

Original languageEnglish
Pages (from-to)1511-1515
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Issue number7
Publication statusPublished - Jul 2009



  • Epilepsy
  • Joubert syndrome
  • Molar tooth sign
  • Polymicrogyria neuropathology

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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