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Pontocerebellar Hypoplasia Type 6

Known as: ENCEPHALOPATHY, FATAL INFANTILE, WITH MITOCHONDRIAL RESPIRATORY CHAIN DEFECTS, PCH6, PONTOCEREBELLAR HYPOPLASIA, TYPE 6 
 
National Institutes of Health

Related topics

Related topics

8 relations
ApneaAtrophy/Degeneration affecting the brainstemAutosomal recessive inheritanceCerebellar atrophy
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Broader (1)

Olivopontocerebellar Atrophies

Papers overview

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2016
2016
RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy?
Mutations in the mitochondrial arginyl tRNA synthetase (RARS2) gene are associated with Pontocerebellar Hypoplasia type 6 (PCH6… Expand
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2016
2016
Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia – further expansion of the phenotypic spectrum
BackgroundPontocerebellar hypoplasia type 6 (PCH6) is a mitochondrial disease caused by mutations in the RARS2 gene. RARS2… Expand
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2015
2015
Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2…
Autosomal recessive mutations in the RARS2 gene encoding the mitochondrial arginyl-transfer RNA synthetase cause infantile-onset… Expand
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2015
2015
A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings
Pontocerebellar hypoplasia (PCH) is characterized by hypoplasia and atrophy of the cerebellum, variable pontine atrophy… Expand
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2013
2013
Subdural effusions and lack of early pontocerebellar hypoplasia in siblings with RARS2 mutations.
Mutations in the recently described RARS2 gene encoding for mitochondrial arginyl-transfer RNA synthetase give rise to a disorder… Expand
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2011
2011
Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2
Pontocerebellar hypoplasia type 6 (PCH6) (MIM #611523) is a recently described disorder caused by mutations in RARS2 (MIM *611524… Expand
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2011
2011
Impairment of the tRNA-splicing endonuclease subunit 54 (tsen54) gene causes neurological abnormalities and larval death in zebrafish models of pontocerebellar hypoplasia.
Pontocerebellar hypoplasia (PCH) represents a group (PCH1-6) of neurodegenerative autosomal recessive disorders characterized by… Expand
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2011
2011
Cerebellar hypoplasia and brainstem thinning associated with severe white matter and basal ganglia abnormalities in a child with an mtDNA deletion
Cerebellar and brainstem hypoplasia may occur in different conditions, including those disorders designated as pontocerebellar… Expand
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2010
2010
Pontocerebellar hypoplasia type 6: A British case with PEHO-like features.
Six subtypes of autosomal recessive pontocerebellar hypoplasia (PCH) have been identified and the genetic basis of four of these… Expand
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2009
2009
Identification of Three Classes of Heteroaromatic Compounds with Activity against Intracellular Trypanosoma cruzi by Chemical Library Screening
The development of new drugs against Chagas disease is a priority since the currently available medicines have toxic effects… Expand
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