Cerebellar Agenesis

Common Name(s)

Cerebellar Agenesis

Cerebellar Agenesis is a rare condition in which the patient has very little cerebellar tissue. The cerebellum (made up of cerebellar tissue) is the part at the back of the brain that controls coordination and balance. Cerebellar angenesis may cause uncontrollable quivering, involuntary eye movements, and inability to control your muscles. This is a very rare condition, and thus treatment varies on a case-by-case basis.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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 "Cerebellar Agenesis" returned 7 free, full-text research articles on human participants. First 3 results:

Transformation of the cerebellum into more ventral brainstem fates causes cerebellar agenesis in the absence of Ptf1a function.
 

Author(s): Kathleen J Millen, Ekaterina Y Steshina, Igor Y Iskusnykh, Victor V Chizhikov

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2014 Apr;111(17):E1777-86.

 

Model organism studies have demonstrated that cell fate specification decisions play an important role in normal brain development. Their role in human neurodevelopmental disorders, however, is poorly understood, with very few examples described. The cerebellum is an excellent system ...

Last Updated: 30 Apr 2014

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Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
 

Author(s): Samin A Sajan, Liliana Fernandez, Sahar Esmaeeli Nieh, Eric Rider, Polina Bukshpun, Mari Wakahiro, Susan L Christian, Jean-Baptiste Rivière, Christopher T Sullivan, Jyotsna Sudi, Michael J Herriges, Alexander R Paciorkowski, A James Barkovich, Joseph T Glessner, Kathleen J Millen, Hakon Hakonarson, William B Dobyns, Elliott H Sherr

Journal: PLoS Genet.. 2013 ;9(10):e1003823.

 

Agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and polymicrogyria (PMG) are severe congenital brain malformations with largely undiscovered causes. We conducted a large-scale chromosomal copy number variation (CNV) discovery effort in 255 ACC, 220 CBLH, and 147 ...

Last Updated: 7 Oct 2013

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Congenital rubella with agenesis of the inferior cerebellar vermis and total anomalous pulmonary venous drainage.
 

Author(s): C Cluver, R Meyer, H Odendaal, L Geerts

Journal: Ultrasound Obstet Gynecol. 2013 Aug;42(2):235-7.

 

Congenital rubella infection has been associated with a number of abnormalities including cardiac, central nervous system and placental complications. We present a case with multiple fetal abnormalities detected on prenatal ultrasound, and confirmed postnatally, that included a single ...

Last Updated: 29 Jul 2013

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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 "Cerebellar Agenesis" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.