Pontocerebellar hypoplasia type 6

Common Name(s)

Pontocerebellar hypoplasia type 6

Pontocerebellar hypoplasia (PCH) is a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem and associated with severe developmental delay ({1:Edvardson et al., 2007}). For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 ({607596}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pontocerebellar hypoplasia type 6" 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 6" returned 1 free, full-text research articles on human participants. First 3 results:

Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations.
 

Author(s): Nichola Z Lax, Charlotte L Alston, Katherine Schon, Soo-Mi Park, Deepa Krishnakumar, Langping He, Gavin Falkous, Amanda Ogilvy-Stuart, Christoph Lees, Rosalind H King, Iain P Hargreaves, Garry K Brown, Robert McFarland, Andrew F Dean, Robert W Taylor

Journal: J. Neuropathol. Exp. Neurol.. 2015 Jul;74(7):688-703.

 

Autosomal recessive mutations in the RARS2 gene encoding the mitochondrial arginyl-transfer RNA synthetase cause infantile-onset myoencephalopathy pontocerebellar hypoplasia type 6 (PCH6). We describe 2 sisters with novel compound heterozygous RARS2 mutations who presented perinatally ...

Last Updated: 18 Jun 2015

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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 type 6" 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

There are currently no open clinical trials for this condition.