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 15 free, full-text research articles on human participants. First 3 results:

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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Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations.
 

Author(s): Sabine Rudnik-Schöneborn, Jan Senderek, Joanna C Jen, Gunnar Houge, Pavel Seeman, Alena Puchmajerová, Luitgard Graul-Neumann, Ulrich Seidel, Rudolf Korinthenberg, Janbernd Kirschner, Jürgen Seeger, Monique M Ryan, Francesco Muntoni, Maja Steinlin, Laszlo Sztriha, Jaume Colomer, Christoph Hübner, Knut Brockmann, Lionel Van Maldergem, Manuel Schiff, Andreas Holzinger, Peter Barth, William Reardon, Michael Yourshaw, Stanley F Nelson, Thomas Eggermann, Klaus Zerres

Journal: Neurology. 2013 Jan;80(5):438-46.

 

Pontocerebellar hypoplasia with spinal muscular atrophy, also known as PCH1, is a group of autosomal recessive disorders characterized by generalized muscle weakness and global developmental delay commonly resulting in early death. Gene defects had been discovered only in single patients ...

Last Updated: 29 Jan 2013

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Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration.
 

Author(s): Jijun Wan, Michael Yourshaw, Hafsa Mamsa, Sabine Rudnik-Schöneborn, Manoj P Menezes, Ji Eun Hong, Derek W Leong, Jan Senderek, Michael S Salman, David Chitayat, Pavel Seeman, Arpad von Moers, Luitgard Graul-Neumann, Andrew J Kornberg, Manuel Castro-Gago, María-Jesús Sobrido, Masafumi Sanefuji, Perry B Shieh, Noriko Salamon, Ronald C Kim, Harry V Vinters, Zugen Chen, Klaus Zerres, Monique M Ryan, Stanley F Nelson, Joanna C Jen

Journal:

 

RNA exosomes are multi-subunit complexes conserved throughout evolution and are emerging as the major cellular machinery for processing, surveillance and turnover of a diverse spectrum of coding and noncoding RNA substrates essential for viability. By exome sequencing, we discovered ...

Last Updated: 1 Jun 2012

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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.