J Med Genet 42:369-378 doi:10.1136/jmg.2004.023952
  • Review

Genetics of the polymicrogyria syndromes

  1. A Jansen1,
  2. E Andermann2
  1. 1Neurogenetics Unit, Montreal Neurological Hospital and Institute, and the Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada
  2. 2Neurogenetics Unit, Montreal Neurological Hospital and Institute, and Departments of Neurology and Neurosurgery and Human Genetics, McGill University, Montreal
  1. Correspondence to:
 Dr Eva Andermann
 Neurogenetics Unit, Room 127, Montreal Neurological Hospital and Institute, 3801 University Street, Montreal, Quebec H3A 2B4, Canada;
  • Received 4 November 2004
  • Accepted 5 November 2004


Polymicrogyria is a relatively common malformation of cortical development, characterised by multiple small gyri with abnormal cortical lamination. The different forms of polymicrogyria encompass a wide range of clinical, aetiological, and histological findings. Advances in imaging have improved the diagnosis and classification of the condition. The molecular basis of polymicrogyria is beginning to be elucidated with the identification of a gene, GPR56, for bilateral frontoparietal polymicrogyria. Functional studies of the GPR56 gene product will yield insights not only into the causes of polymicrogyria but also into the mechanisms of normal cortical development and the regional patterning of the cerebral cortex. Based on imaging studies, several other region specific patterns of polymicrogyria have been identified, and there is increasing evidence that these may also have a significant genetic component to their aetiology. This paper reviews current knowledge of the different polymicrogyria syndromes, with discussion of clinical and imaging features, patterns of inheritance, currently mapped loci, candidate genes, chromosomal abnormalities, and implications for genetic counselling.


  • Competing interests: none declared