Pontocerebellar Hypoplasia

Common Name(s)

Pontocerebellar Hypoplasia

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pontocerebellar Hypoplasia" 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 "Pontocerebellar Hypoplasia" returned 18 free, full-text research articles on human participants. First 3 results:

The spinal muscular atrophy with pontocerebellar hypoplasia gene VRK1 regulates neuronal migration through an amyloid-β precursor protein-dependent mechanism.
 

Author(s): Hadar Vinograd-Byk, Tamar Sapir, Lara Cantarero, Pedro A Lazo, Sharon Zeligson, Dorit Lev, Tally Lerman-Sagie, Paul Renbaum, Orly Reiner, Ephrat Levy-Lahad

Journal: J. Neurosci.. 2015 Jan;35(3):936-42.

 

Spinal muscular atrophy with pontocerebellar hypoplasia (SMA-PCH) is an infantile SMA variant with additional manifestations, particularly severe microcephaly. We previously identified a nonsense mutation in Vaccinia-related kinase 1 (VRK1), R358X, as a cause of SMA-PCH. VRK1-R358X ...

Last Updated: 22 Jan 2015

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Natural course of pontocerebellar hypoplasia type 2A.
 

Author(s): Iciar Sánchez-Albisua, Saskia Frölich, Peter G Barth, Maja Steinlin, Ingeborg Krägeloh-Mann

Journal:

 

Pontocerebellar hypoplasia Type 2 (PCH2) is a rare autosomal recessive condition, defined on MRI by a small cerebellum and ventral pons. Clinical features are severe developmental delay, microcephaly and dyskinesia.Ninety percent carry a p.A307S mutation in the TSEN54-gene. Our aim ...

Last Updated: 4 Jun 2014

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EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.
 

Author(s): Veerle Rc Eggens, Peter G Barth, Jikke-Mien F Niermeijer, Jonathan N Berg, Niklas Darin, Abhijit Dixit, Joel Fluss, Nicola Foulds, Darren Fowler, Tibor Hortobágyi, Thomas Jacques, Mary D King, Periklis Makrythanasis, Adrienn Máté, James A R Nicoll, Declan O'Rourke, Sue Price, Andrew N Williams, Louise Wilson, Mohnish Suri, Laszlo Sztriha, Marit B Dijns-de Wissel, Mia T van Meegen, Fred van Ruissen, Eleonora Aronica, Dirk Troost, Charles Blm Majoie, Henk A Marquering, Bwee Tien Poll-Thé, Frank Baas

Journal:

 

Pontocerebellar hypoplasia (PCH) represents a group of neurodegenerative disorders with prenatal onset. Eight subtypes have been described thus far (PCH1-8) based on clinical and genetic features. Common characteristics include hypoplasia and atrophy of the cerebellum, variable pontine ...

Last Updated: 19 Feb 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 "Pontocerebellar Hypoplasia" returned 1 free, full-text review articles on human participants. First 3 results:

Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia.
 

Author(s): Yasmin Namavar, Peter G Barth, Bwee Tien Poll-The, Frank Baas

Journal:

 

Pontocerebellar Hypoplasia (PCH) is group of very rare, inherited progressive neurodegenerative disorders with prenatal onset. Up to now seven different subtypes have been reported (PCH1-7). The incidence of each subtype is unknown. All subtypes share common characteristics, including ...

Last Updated: 23 Aug 2011

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.