POLG, DNA polymerase gamma, catalytic subunit, 5428

N. diseases: 462; N. variants: 173
Disease: Ataxia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004134
Disease: Ataxia
Ataxia 		0.200 GeneticVariation phenotype BEFREE Here, we describe a 60-year-old male affected by ataxia due to biallelic mutations in the mitochondrial polymerase gamma (POLG) gene in which hyperintensities of the middle cerebellar peduncles (MCP) were found. 27071669 2016
CUI: C0004134
Disease: Ataxia
Ataxia 		0.200 GeneticVariation phenotype BEFREE Parkinsonism and ataxia are the most common movement disorders associated with POLG1 mutations but no phenotype-genotype correlation has been established. 23865558 2013
CUI: C0004134
Disease: Ataxia
Ataxia 		0.200 GeneticVariation phenotype BEFREE POLG1 mutations, especially when associated with late-onset phenotypes, appear to cause a predominantly sensory neuropathy with prominent ataxia. 22435634 2012
CUI: C0004134
Disease: Ataxia
Ataxia 		0.200 Biomarker phenotype BEFREE This leads to uncertainties about the role of POLG genetics in the workup of patients with unexplained ataxia. 22528963 2012
CUI: C0004134
Disease: Ataxia
Ataxia 		0.200 Biomarker phenotype BEFREE However, POLG1 is not a common cause of isolated epilepsy or ataxia in childhood. 21357833 2011
CUI: C0004134
Disease: Ataxia
Ataxia 		0.200 GeneticVariation phenotype BEFREE In humans, POLGalpha W748S in cis with an E1143G mutation has been linked to a new type of recessive ataxia, MIRAS, which is the most common inherited ataxia in Finland. 20153822 2010
CUI: C0004134
Disease: Ataxia
Ataxia 		0.200 GeneticVariation phenotype BEFREE Different mutations, or combinations of mutations, in POLG1, the gene encoding pol gammaA, the catalytic subunit of mitochondrial DNA polymerase, are associated with a spectrum of clinical presentations including autosomal dominant or recessive progressive external ophthalmoplegia (PEO), juvenile-onset ataxia and epilepsy, and Alpers-Huttenlocher syndrome. 18502641 2008
CUI: C0004134
Disease: Ataxia
Ataxia 		0.200 Biomarker phenotype BEFREE Even in the absence of classic features of mitochondrial disease, POLG1 should be considered in patients having axonal CMT that may be associated with tremor or ataxia. 18195151 2008
CUI: C0004134
Disease: Ataxia
Ataxia 		0.200 GeneticVariation phenotype BEFREE The mtDNA mutations A3243G, A8344G, T8993G, T8993C, or POLG1 W748S and A467T are very rare causes of adult-onset ataxia in Taiwan. 17300808 2007
CUI: C0004134
Disease: Ataxia
Ataxia 		0.200 GeneticVariation phenotype LHGDN POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness. 14745080 2004
CUI: C0004134
Disease: Ataxia
Ataxia 		0.200 GeneticVariation phenotype BEFREE POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. 15477547 2004
CUI: C0004134
Disease: Ataxia
Ataxia 		0.200 Biomarker phenotype HPO