Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
PRICKLE2 Mutations Might Not Be Involved in Epilepsy.
|
26942291 |
2016 |
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies.
|
25655951 |
2015 |
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Rhabdomyolysis: a genetic perspective.
|
25929793 |
2015 |
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
|
0.760 |
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 |
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
|
0.760 |
Biomarker
|
disease |
BEFREE |
We aim to describe the longitudinal clinical features and the treatment response of three unrelated patients with neurodegenerative parkinsonism, preceded by PEO and SANDO syndromes, who harbor POLG1 mutations, including two novel mutations.
|
25203713 |
2014 |
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
This is the case in several syndromes caused by impaired mtDNA maintenance, such as Sensory Ataxic Neuropathy, Dysarthria and Ophthalmoplegia (SANDO) due to recessive mutations in the POLG gene, which encodes the catalytic subunit of mtDNA polymerase (DNA polymerase gamma), or Mitochondrial Neuro-Gastro-Intestinal Encephalomyopathy (MNGIE), due to recessive mutations in the TYMP gene, which encodes thymidine phosphorylase.
|
24768438 |
2014 |
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
The triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO) has been demonstrated in a small subset of patients with POLG1 mutations.
|
20513108 |
2010 |
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
|
0.760 |
Biomarker
|
disease |
CTD_human |
Alpers syndrome with prominent white matter changes.
|
17923349 |
2008 |
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Sensory ataxic neuropathy with ophthalmoparesis (SANDO) caused by mutations in POLG gene, fulfilling the clinical triad of sensory ataxic neuropathy, dysarthria and/or dysphagia and ophthalmoparesis, has described in a few reports.
|
18585914 |
2008 |
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
ANT1, TWINKLE and POLG genes affect mtDNA stability and are involved in autosomal dominant PEO, while mutations in POLG are responsible for numerous clinical presentations, including autosomal recessive PEO, sensory ataxic neuropathy, dysarthria and ophthalmoparesis (SANDO), spino-cerebellar ataxia and epilepsy (SCAE) or Alpers syndrome.
|
16639411 |
2006 |
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
|
0.760 |
GermlineCausalMutation
|
disease |
ORPHANET |
SANDO: two novel mutations in POLG1 gene.
|
16919951 |
2006 |
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
SANDO: two novel mutations in POLG1 gene.
|
16919951 |
2006 |
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.
|
16621917 |
2006 |
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
|
0.760 |
GermlineCausalMutation
|
disease |
ORPHANET |
Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.
|
15824347 |
2005 |
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin.
|
16080118 |
2005 |
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome.
|
15917273 |
2005 |
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
One sibling presented with sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO), a phenotype previously associated with the POLG1 gene, highlighting the clinical overlap in autosomal PEO.
|
15668446 |
2005 |
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.
|
15824347 |
2005 |
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness.
|
14745080 |
2004 |
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.
|
15477547 |
2004 |
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
|
0.760 |
GermlineCausalMutation
|
disease |
ORPHANET |
Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia.
|
12565911 |
2003 |
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia.
|
12565911 |
2003 |
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
|
0.760 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
|
|
|