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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Bilateral frontoparietal polymicrogyria


Other Names for this Disease

  • BFPP
  • Cerebellar ataxia with neuronal migration defect
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

What is bilateral frontoparietal polymicrogyria?

What are the signs and symptoms of bilateral frontoparietal polymicrogyria?

What is bilateral frontoparietal polymicrogyria?

Bilateral frontoparietal polymicrogyria (BFPP) is an abnormality of the developing brain in which the brain develops too many folds (which are also unusually small). BFPP specifically affects the frontal and parietal lobes and occurs in both sides of the brain (bilateral). Signs and symptoms of BFPP typically include moderate to severe intellectual disability, motor developmental delay, seizures, cerebellar ataxia, strabismus, dysconjugate gaze (eyes that are not aligned) and other findings. Some cases of BFPP are caused by mutations in the GPR56 gene, and it is inherited in an autosomal recessive manner.[1]
Last updated: 8/24/2011

What are the signs and symptoms of bilateral frontoparietal polymicrogyria?

The most commonly reported signs and symptoms in individuals with bilateral frontoparietal polymicrogyria (BFPP) include moderate to severe intellectual disability; motor and cognitive developmental delay; seizures; cerebellar dysfunction; and dysconjugate gaze (eyes that are not aligned). Other findings that have been reported include increased muscle tone; mild truncal ataxia (decreased ability to perform smoothly coordinated voluntary movements); finger dysmetria (difficulty controlling speed, distance and/or power of movements); and strabismus.

In addition to polymicrogyria, brain MRI studies may show enlarged ventricles, reduced white matter volume (showing areas containing nerve fibers), patchy white matter signal changes, and underdevelopment of the cerebellum and brainstem.[1]
Last updated: 8/24/2011

References
  1. Cassandra L. Kniffin. POLYMICROGYRIA, BILATERAL FRONTOPARIETAL. OMIM. March 27, 2006; http://omim.org/entry/606854. Accessed 8/24/2011.


Other Names for this Disease
  • BFPP
  • Cerebellar ataxia with neuronal migration defect
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.