Cerebellar Hypoplasia

Common Name(s)

Cerebellar Hypoplasia

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

Last Updated: 22 Apr 2015

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

Logo
Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

http://www.pediatricbrainfoundation.org

Last Updated: 22 Apr 2015

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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 "Cerebellar Hypoplasia" returned 36 free, full-text research articles on human participants. First 3 results:

Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.
 

Author(s): Alistair T Pagnamenta, Malcolm F Howard, Eva Wisniewski, Niko Popitsch, Samantha J L Knight, David A Keays, Gerardine Quaghebeur, Helen Cox, Phillip Cox, Tamas Balla, Jenny C Taylor, Usha Kini

Journal: Hum. Mol. Genet.. 2015 Jul;24(13):3732-41.

 

Polymicrogyria (PMG) is a structural brain abnormality involving the cerebral cortex that results from impaired neuronal migration and although several genes have been implicated, many cases remain unsolved. In this study, exome sequencing in a family where three fetuses had all been ...

Last Updated: 9 Jun 2015

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EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia.
 

Author(s): Veronika Boczonadi, Juliane S Müller, Angela Pyle, Jennifer Munkley, Talya Dor, Jade Quartararo, Ileana Ferrero, Veronika Karcagi, Michele Giunta, Tuomo Polvikoski, Daniel Birchall, Agota Princzinger, Yuval Cinnamon, Susanne Lützkendorf, Henriett Piko, Mojgan Reza, Laura Florez, Mauro Santibanez-Koref, Helen Griffin, Markus Schuelke, Orly Elpeleg, Luba Kalaydjieva, Hanns Lochmüller, David J Elliott, Patrick F Chinnery, Shimon Edvardson, Rita Horvath

Journal:

 

The exosome is a multi-protein complex, required for the degradation of AU-rich element (ARE) containing messenger RNAs (mRNAs). EXOSC8 is an essential protein of the exosome core, as its depletion causes a severe growth defect in yeast. Here we show that homozygous missense mutations ...

Last Updated: 3 Jul 2014

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Vertebral artery hypoplasia: frequency and effect on cerebellar blood flow characteristics.
 

Author(s): Kolja M Thierfelder, Alena B Baumann, Wieland H Sommer, Marco Armbruster, Christian Opherk, Hendrik Janssen, Maximilian F Reiser, Andreas Straube, Louisa von Baumgarten

Journal: Stroke. 2014 May;45(5):1363-8.

 

Vertebral artery hypoplasia (VAH) is supposed to be a risk factor for posterior circulation ischemia (PCI), particularly in the territory of the posterior inferior cerebellar artery (PICA). The aim of our study was to determine whether VAH impedes perfusion in the dependent PICA territory ...

Last Updated: 29 Apr 2014

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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 Hypoplasia" returned 2 free, full-text review articles on human participants. First 3 results:

Prenatal diagnosis of hemifacial microsomia and ipsilateral cerebellar hypoplasia in a fetus with oculoauriculovertebral spectrum.
 

Author(s): P Martinelli, G M Maruotti, A Agangi, L L Mazzarelli, G Bifulco, D Paladini

Journal: Ultrasound Obstet Gynecol. 2004 Aug;24(2):199-201.

 

Oculoauriculovertebral spectrum, or Goldenhar syndrome, is characterized by varying degrees of prevalently unilateral underdevelopment of craniofacial structures (orbit, ear, mandible) and spinal anomalies. We report the prenatal ultrasonographic diagnosis made at 24 weeks' gestation ...

Last Updated: 2 Aug 2004

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Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia.
 

Author(s): Carsten Bergmann, Klaus Zerres, Jan Senderek, Sabine Rudnik-Schoneborn, Thomas Eggermann, Martin Häusler, Michael Mull, Vincent T Ramaekers

Journal: Brain. 2003 Jul;126(Pt 7):1537-44.

 

We identified an oligophrenin 1 (OPHN1) gene mutation in a family with five brothers affected by a recognizable pattern of clinical and neuroradiological hallmarks. The distinctive phenotype comprised moderate to severe mental retardation, myoclonic-astatic epilepsy, ataxia, strabismus ...

Last Updated: 23 Jun 2003

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

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.