Learn About Polymicrogyria

What is the definition of Polymicrogyria?

Polymicrogyria is a condition characterized by abnormal development of the brain before birth. The surface of the brain normally has many ridges or folds, called gyri. In people with polymicrogyria, the brain develops too many folds, and the folds are unusually small. The name of this condition literally means too many (poly-) small (micro-) folds (-gyria) in the surface of the brain.

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What are the causes of Polymicrogyria?

In most people with polymicrogyria, the cause of the condition is unknown. However, researchers have identified several environmental and genetic factors that can be responsible for the disorder. Environmental causes of polymicrogyria include certain infections during pregnancy and a lack of oxygen to the fetus (intrauterine ischemia).

How prevalent is Polymicrogyria?

The prevalence of isolated polymicrogyria is unknown. Researchers believe that it may be relatively common overall, although the individual forms of the disorder (such as bilateral generalized polymicrogyria) are probably rare.

Is Polymicrogyria an inherited disorder?

Isolated polymicrogyria can have different inheritance patterns. Several forms of the condition, including bilateral frontoparietal polymicrogyria (which is associated with mutations in the ADGRG1 gene), have an autosomal recessive pattern of inheritance. In autosomal recessive inheritance, both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

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What are the latest Polymicrogyria Clinical Trials?
A Phase II Double-blind Multi-center, Placebo-controlled Trial, to Assess the Efficacy and Safety of Alpelisib (BYL719) in Pediatric and Adult Patients With Megalencephaly-CApillary Malformation Polymicrogyria Syndrome (MCAP)

Summary: This study is a two periods multi-center Phase II trial, with a 6 months double-blind, placebo-controlled period followed by open label period. It will involve 16 participants with MCAP syndrome. Assessment will be performed at baseline and after 24 months of treatment and will include MRI, biological and clinical results, attention, language, and Intellectual Quotient (IQ) assessment. Appropriate...

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Disorders of Cerebral Development: A Phenotypic and Genetic Analysis

Summary: Dr. Elliott Sherr and his collaborators at University of California, San Francisco (UCSF) are studying the genetic causes of disorders of cognition and epilepsy, in particular disorders of brain development that affect the corpus callosum, such as Aicardi syndrome, as well as two additional brain malformations, polymicrogyria and Dandy-Walker malformation. The goal of the investigators' research i...

Who are the sources who wrote this article ?

Published Date: June 01, 2009Published By: National Institutes of Health

What are the Latest Advances for Polymicrogyria?
Comparison of Surgical Outcomes in Individuals With Hypothalamic Hamartoma Alone or With Other Potentially Epileptogenic Focal Lesions.
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