Pontocerebellar hypoplasia type 1

Common Name(s)

Pontocerebellar hypoplasia type 1

Pontocerebellar hypoplasia type 1 (PCH1) is a genetic condition that affects the development of the brain. Individuals with this condition have an unusually small and underdeveloped cerebellum, which is the part of the brain that coordinates movement. A region of the brain called the pons also fails to develop properly. The pons, which is located at the base of the brain in an area called the brainstem, transmits signals from the cerebellum to the rest of the brain. Individuals with PCH1 also experience a degeneration of the anterior horn cells. Because of the anterior horn cell involvement, this condition bears a resemblance to infantile spinal muscular atrophy, with severe muscle weakness.  Other signs and symptoms of PCH1 include very weak muscle tone (hypotonia), joint deformities called contractures, a small head size (microcephaly), and breathing problems that are present at birth. Mutations in the VRK1 gene have been identified in at least one family with PCH1. The condition is inherited in an autosomal recessive manner. Most children with PCH1 live only into infancy.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pontocerebellar hypoplasia type 1" 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 type 1" returned 3 free, full-text research articles on human participants. First 3 results:

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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Macrocephaly in association with pontocerebellar hypoplasia type 1: a paradox.
 

Author(s): Parag M Tamhankar, Jyoti C Suvarna, Chandrahas T Deshmukh

Journal: Indian J Med Sci. 2009 Mar;63(3):120-3.

 

Last Updated: 10 Apr 2009

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[Pontocerebellar hypoplasia type 1: a case report].
 

Author(s): C Gómez-Lado, G Landín-Iglesias, E Pintos-Martínez, N Pastor-Benavent, J Eirís-Puñal, M Castro-Gago

Journal: Rev Neurol. ;44(5):281-4.

 

Pontocerebellar hypoplasias constitute a group of hereditary neurodegenerative disorders of uncertain aetiopathogenesis. They have been reported as being associated with deficiencies of complexes in the mitochondrial respiratory chain (MRC) and with congenital disorders of glycosylation. ...

Last Updated: 7 Mar 2007

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Reviews from the PubMed Database

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The terms "Pontocerebellar hypoplasia type 1" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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