Pachygyria

Common Name(s)

Pachygyria

Pachygyria is a developmental condition due to abnormal migration of nerve cells (neurons) in the developing brain and nervous system. With pachygyria, there are few gyri (the ridges between the wrinkles in the brain), and they are usually broad and flat. The condition is also known as "incomplete lissencephaly." Pachygyria may occur alone (isolated) or as part of various underlying syndromes. Symptoms vary among affected people and may include moderate to severe developmental delay, seizures, poor muscle tone and control, feeding or swallowing difficulties, and small head size (microcephaly). In most cases it is not inherited, but various inheritance patterns have been reported. Treatment is symptomatic and supportive.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pachygyria" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Pachygyria" returned 6 free, full-text research articles on human participants. First 3 results:

Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations.
 

Author(s): Renzo Guerrini, Davide Mei, Duccio Maria Cordelli, Daniela Pucatti, Emilio Franzoni, Elena Parrini

Journal: Eur. J. Hum. Genet.. 2012 Sep;20(9):995-8.

 

The purpose of the study is to explore the causative role of TUBB2B gene mutations in patients with different malformations of cortical development. We collected and evaluated clinical and MRI data of a cohort of 128 consecutive patients (61 females and 67 males) in whom brain MRI ...

Last Updated: 16 Aug 2012

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Infantile spasms associated with lissencephaly pachygyria in a female twin.
 

Author(s): Roshan Koul, Rajeev Jain, Amna Alfutais

Journal: Neurol India. ;58(2):322-3.

 

Last Updated: 28 May 2010

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A pachygyria-causing alpha-tubulin mutation results in inefficient cycling with CCT and a deficient interaction with TBCB.
 

Author(s): Guoling Tian, Xiang-Peng Kong, Xavier H Jaglin, Jamel Chelly, David Keays, Nicholas J Cowan

Journal: Mol. Biol. Cell. 2008 Mar;19(3):1152-61.

 

The agyria (lissencephaly)/pachygyria phenotypes are catastrophic developmental diseases characterized by abnormal folds on the surface of the brain and disorganized cortical layering. In addition to mutations in at least four genes--LIS1, DCX, ARX and RELN--mutations in a human alpha-tubulin ...

Last Updated: 29 Feb 2008

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Pachygyria" returned 1 free, full-text review articles on human participants. First 3 results:

A new autosomal recessive disorder of bilateral frontotemporal pachygyria without microcephaly: report of a case and review of literature.
 

Author(s): Shubha R Phadke, K M Girisha, Rajendra V Phadke

Journal: Neurol India. ;55(1):57-60.

 

Pachygyria is a disorder of neuronal migration. We report an Indian family with four siblings with developmental delay, infrequent seizures, normal head size and mild to moderate mental retardation. Two of them had bilaterally symmetrical frontotemporal pachygyria. Dysmorphism and ...

Last Updated: 2 Feb 2007

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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