FAQ

Pontocerebellar Hypoplasia Type 6

Known as: Encephalopathy, Fatal Infantile, With Mitochondrial Respiratory Chain Defects, PCH6, PONTOCEREBELLAR HYPOPLASIA, TYPE 6 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1986-2017
01219862017

Related topics

Related topics

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

Olivopontocerebellar Atrophies

Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
Pontocerebellar Hypoplasia Type 6
Seizures
Apnea
Autosomal recessive inheritance
Cerebral atrophy
Olivopontocerebellar Atrophies

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
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… (More)
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2016
2016
Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia – further expansion of the phenotypic spectrum
BACKGROUND Pontocerebellar hypoplasia type 6 (PCH6) is a mitochondrial disease caused by mutations in the RARS2 gene. RARS2… (More)
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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… (More)
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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… (More)
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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… (More)
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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… (More)
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Review
2011
Review
2011
Classification, diagnosis and potential mechanisms in Pontocerebellar Hypoplasia
Pontocerebellar Hypoplasia (PCH) is group of very rare, inherited progressive neurodegenerative disorders with prenatal onset. Up… (More)
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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… (More)
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1992
1992
Congenital 21-hydroxylase deficiency as a new deletion mutation. Detection in a proband during subsequent prenatal diagnosis by HLA typing and DNA analysis.
A child with 21-OH-def whose 9 weeks' pregnant mother was referred for prenatal diagnosis was found upon very careful… (More)
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1986
1986
Use of DNA probes from the 5' flanking region of the HLA-B gene to examine polymorphism at the HLA-B locus.
Two DNA probes isolated from the region 5' to the HLA-B gene are described. One of these, pCH6, detects a TaqI polymorphism which… (More)
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