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

Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.
 

Author(s): Rea M Lardelli, Ashleigh E Schaffer, Veerle R C Eggens, Maha S Zaki, Stephanie Grainger, Shashank Sathe, Eric L Van Nostrand, Zinayida Schlachetzki, Basak Rosti, Naiara Akizu, Eric Scott, Jennifer L Silhavy, Laura Dean Heckman, Rasim Ozgur Rosti, Esra Dikoglu, Anne Gregor, Alicia Guemez-Gamboa, Damir Musaev, Rohit Mande, Ari Widjaja, Tim L Shaw, Sebastian Markmiller, Isaac Marin-Valencia, Justin H Davies, Linda de Meirleir, Hulya Kayserili, Umut Altunoglu, Mary Louise Freckmann, Linda Warwick, David Chitayat, Susan Blaser, Ahmet Okay Çağlayan, Kaya Bilguvar, Huseyin Per, Christina Fagerberg, Henrik T Christesen, Maria Kibaek, Kimberly A Aldinger, David Manchester, Naomichi Matsumoto, Kazuhiro Muramatsu, Hirotomo Saitsu, Masaaki Shiina, Kazuhiro Ogata, Nicola Foulds, William B Dobyns, Neil C Chi, David Traver, Luigina Spaccini, Stefania Maria Bova, Stacey B Gabriel, Murat Gunel, Enza Maria Valente, Marie-Cecile Nassogne, Eric J Bennett, Gene W Yeo, Frank Baas, Jens Lykke-Andersen, Joseph G Gleeson

Journal: Nat. Genet.. 2017 Mar;49(3):457-464.

 

Deadenylases are best known for degrading the poly(A) tail during mRNA decay. The deadenylase family has expanded throughout evolution and, in mammals, consists of 12 Mg(2+)-dependent 3'-end RNases with substrate specificity that is mostly unknown. Pontocerebellar hypoplasia type ...

Last Updated: 16 Jan 2017

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Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia - further expansion of the phenotypic spectrum.
 

Author(s): S Lühl, H Bode, W Schlötzer, M Bartsakoulia, R Horvath, A Abicht, M Stenzel, J Kirschner, S C Grünert

Journal:

 

Pontocerebellar hypoplasia type 6 (PCH6) is a mitochondrial disease caused by mutations in the RARS2 gene. RARS2 encodes mitochondrial arginyl transfer RNA synthetase, an enzyme involved in mitochondrial protein translation. A total of 27 patients from 14 families have been reported ...

Last Updated: 22 Oct 2016

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Brain morphometry in Pontocerebellar Hypoplasia type 2.
 

Author(s): Kaspar Ekert, Samuel Groeschel, Iciar Sánchez-Albisua, Saskia Frölich, Andrea Dieckmann, Corinna Engel, Ingeborg Krägeloh-Mann

Journal:

 

Pontocerebellar hypoplasia type 2 (PCH2) is caused by a defect in the TSEN54-gene and leads to severe and early disruption of brain development, especially of cerebellum and pons. The aim of this work was to quantify the infra- and supratentorial brain growth during postnatal brain ...

Last Updated: 19 Jul 2016

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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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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.