Pontocerebellar hypoplasia type 1

Common Name(s)

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.

Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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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:

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: 31 Dec 1969

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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: 31 Dec 1969

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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: 31 Dec 1969

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PubMed Article Results at NCBI: 3 article(s)

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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

This information is provided by Genetics Home Reference.

Full Results at Genetics Home Reference: 3026 matches

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This information is provided by Genetic Testing Registry.

http://www.ncbi.nlm.nih.gov/gtr/conditions/C1843504

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.

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