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 |
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 |
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 |
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 |
Ataxia
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
However, POLG1 is not a common cause of isolated epilepsy or ataxia in childhood.
|
21357833 |
2011 |
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 |
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 |
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 |
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 |
Ataxia
|
0.200 |
GeneticVariation
|
phenotype |
LHGDN |
POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness.
|
14745080 |
2004 |
Ataxia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.
|
15477547 |
2004 |
Ataxia
|
0.200 |
Biomarker
|
phenotype |
HPO |
|
|
|