Alpers Syndrome (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The six leading disorders caused by POLG mutations are Alpers-Huttenlocher syndrome, which is one of the most severe phenotypes; childhood myocerebrohepatopathy spectrum, which presents within the first 3 years of life; myoclonic epilepsy myopathy sensory ataxia; ataxia neuropathy spectrum; autosomal recessive progressive external ophthalmoplegia; and autosomal dominant progressive external ophthalmoplegia.
|
30451971 |
2019 |
Alpers Syndrome (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
Specific EEG markers in POLG1 Alpers' syndrome.
|
30103161 |
2018 |
Alpers Syndrome (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A defect in the POLG gene is another common observation in most of the cases leading to Alpers syndrome.
|
29375674 |
2018 |
Alpers Syndrome (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
De novo mtDNA point mutations are common and have a low recurrence risk.
|
27450679 |
2017 |
Alpers Syndrome (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mutations in the mitochondrial DNA polymerase, POLG, are associated with a variety of clinical presentations, ranging from early onset fatal brain disease in Alpers syndrome to chronic progressive external ophthalmoplegia.
|
28430993 |
2017 |
Alpers Syndrome (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Alpers-Huttenlocher Syndrome First Presented with Hepatic Failure: Can Liver Transplantation Be Considered as Treatment Option?
|
29302508 |
2017 |
Alpers Syndrome (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.
|
26735972 |
2016 |
Alpers Syndrome (disorder)
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
Alpers Syndrome (disorder)
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies.
|
25655951 |
2015 |
Alpers Syndrome (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Alpers disease mutations in human DNA polymerase gamma cause catalytic defects in mitochondrial DNA replication by distinct mechanisms.
|
25914719 |
2015 |
Alpers Syndrome (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the polymerase gamma-1 (POLG1) gene, encoding the catalytic subunit of the mtDNA-specific polymerase-γ, compromise the stability of mitochondrial DNA (mtDNA) and are responsible for numerous clinical presentations as autosomal dominant or recessive progressive external ophthalmoplegia (PEO), sensory ataxia, neuropathy, dysarthria and ophthalmoparesis (SANDO), spinocerebellar ataxia with epilepsy (SCAE) and Alpers syndrome.
|
25660390 |
2015 |
Alpers Syndrome (disorder)
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Rhabdomyolysis: a genetic perspective.
|
25929793 |
2015 |
Alpers Syndrome (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The exonuclease activity of DNA polymerase γ is required for ligation during mitochondrial DNA replication.
|
26095671 |
2015 |
Alpers Syndrome (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort.
|
23921535 |
2014 |
Alpers Syndrome (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mapping 136 pathogenic mutations into functional modules in human DNA polymerase γ establishes predictive genotype-phenotype correlations for the complete spectrum of POLG syndromes.
|
24508722 |
2014 |
Alpers Syndrome (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Cranial nerve and cervical root enhancement in an infant with polymerase gamma mutation mitochondrial disease.
|
25286830 |
2014 |
Alpers Syndrome (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
POLG mutations are associated with Alpers-Huttenlocher syndrome; however, no prior studies have examined the role of acute human herpesvirus 6 infection in these patients presenting with severe neurological disease.
|
25160553 |
2014 |
Alpers Syndrome (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A national perspective on prenatal testing for mitochondrial disease.
|
24642831 |
2014 |
Alpers Syndrome (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts.
|
24725338 |
2014 |
Alpers Syndrome (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia.
|
25281868 |
2014 |
Alpers Syndrome (disorder)
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mitochondrial DNA depletion syndrome causing liver failure.
|
25129007 |
2014 |
Alpers Syndrome (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Many mutations in POLG, the gene that encodes pol γ, have been associated with mitochondrial diseases such as myocerebrohepatopathy spectrum (MCHS) disorders, Alpers-Huttenlocher syndrome, myoclonic epilepsy myopathy sensory ataxia (MEMSA), ataxia neuropathy spectrum (ANS), and progressive external ophthalmoplegia (PEO).
|
23545419 |
2013 |
Alpers Syndrome (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
We recommend POLG gene testing for patients with intractable seizures and at least one elevated CSF lactate or suggestive brain MRI changes (predominantly abnormal T2 -weighted thalamic signal) with or without status epilepticus, epilepsia partialis continua, or liver manifestations typical for Alpers disease, especially when the disease course is progressive.
|
23448099 |
2013 |
Alpers Syndrome (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Neurons may be the primary target of mitochondrial dysfunction in brains of patients with Alpers disease related to POLG1 mutations.
|
22537151 |
2013 |
Alpers Syndrome (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The development of next-generation sequencing assays for the mitochondrial genome and 108 nuclear genes associated with mitochondrial disorders.
|
23665194 |
2013 |