COENZYME Q10 DEFICIENCY
|
0.330 |
Biomarker
|
disease |
BEFREE |
To further demonstrate that sulfides metabolism defects cause oxidative stress in CoQ deficiency, we show that silencing of sulfide quinone oxido-reductase (SQOR) in wild-type HeLa cells leads to similar increases of reactive oxygen species (ROS) observed in HeLa cells depleted of the CoQ biosynthesis regulatory protein COQ8A.
|
30251690 |
2018 |
COENZYME Q10 DEFICIENCY
|
0.330 |
GeneticVariation
|
disease |
BEFREE |
ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency.
|
18319074 |
2008 |
COENZYME Q10 DEFICIENCY
|
0.330 |
GeneticVariation
|
disease |
BEFREE |
CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures.
|
18319072 |
2008 |
Ataxia
|
0.150 |
GeneticVariation
|
phenotype |
BEFREE |
A mutation in the ADCK3/Coq8 gene (R347X) was identified in a female patient with ataxia, seizures and markedly reduced COQ10 levels.
|
21873089 |
2012 |
Ataxia
|
0.150 |
Biomarker
|
phenotype |
BEFREE |
We show that mice lacking COQ8A develop a slowly progressive cerebellar ataxia linked to Purkinje cell dysfunction and mild exercise intolerance, recapitulating ARCA2.
|
27499294 |
2016 |
Ataxia
|
0.150 |
GeneticVariation
|
phenotype |
BEFREE |
A molecular diagnosis could be established for 57 patients; 36 were affected with FRDA, seven with ataxia plus oculomotor apraxia type 2 (AOA2), four with AT, three with ataxia plus oculomotor apraxia type 1 (AOA1), three with Marinesco-Sjögren syndrome, two with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), one with ataxia with vitamin E deficiency (AVED) and one with autosomal recessive cerebellar ataxia type 2 (ARCA2).
|
19440741 |
2010 |
Ataxia
|
0.150 |
GeneticVariation
|
phenotype |
BEFREE |
Five additional mutations in ADCK3 were found in three patients with sporadic ataxia, including one known to have CoQ(10) deficiency in muscle.
|
18319074 |
2008 |
Ataxia
|
0.150 |
GeneticVariation
|
phenotype |
BEFREE |
The combination of writing difficulty, dystonia and ataxia is a distinctive constellation that is reminiscent of a previously described clinical entity called Dystonia Ataxia Syndrome (DYTCA) and is an important clinical indicator of COQ8A mutations, even when ataxia is mild or absent.
|
31621627 |
2019 |
Progressive cerebellar ataxia
|
0.140 |
GeneticVariation
|
disease |
BEFREE |
Slowly progressive ataxia and intellectual disability were the common clinical manifestations of the patients with homozygous c.1396delG (p. E466Rfs*11) pathogenic variant in COQ8A.
|
31741144 |
2020 |
Progressive cerebellar ataxia
|
0.140 |
Biomarker
|
disease |
BEFREE |
We show that mice lacking COQ8A develop a slowly progressive cerebellar ataxia linked to Purkinje cell dysfunction and mild exercise intolerance, recapitulating ARCA2.
|
27499294 |
2016 |
Progressive cerebellar ataxia
|
0.140 |
GeneticVariation
|
disease |
BEFREE |
Homozygosity mapping in a consanguineous family with three affected children with progressive cerebellar ataxia and atrophy revealed a candidate locus on chromosome 1, containing the CABC1/ADCK3 (the chaperone, ABC1 activity of bc1 complex homologue) gene.
|
20580948 |
2010 |
Progressive cerebellar ataxia
|
0.140 |
Biomarker
|
disease |
BEFREE |
ADCK3 is one of several genes associated with CoQ10 deficiency that presents with progressive cerebellar ataxia, epilepsy, migraine and psychiatric disorders.
|
27106809 |
2016 |
Dystonia
|
0.120 |
GeneticVariation
|
phenotype |
BEFREE |
Dystonia is common in Leigh syndrome (which may be caused by 75 different genes) and in Leber hereditary ocular neuropathy (LHON) plus disease, due to mutations in mtDNA genes that encode subunits of NADH dehydrogenase, as well as in ARCA2, pantothenate kinase-associated neurodegeneration (PKAN), mitochondrial membrane protein-associated neurodegeneration (MPAN) and POLG1 mutations.
|
27476418 |
2017 |
Dystonia
|
0.120 |
GeneticVariation
|
phenotype |
BEFREE |
The combination of writing difficulty, dystonia and ataxia is a distinctive constellation that is reminiscent of a previously described clinical entity called Dystonia Ataxia Syndrome (DYTCA) and is an important clinical indicator of COQ8A mutations, even when ataxia is mild or absent.
|
31621627 |
2019 |
Seizures
|
0.110 |
GeneticVariation
|
phenotype |
BEFREE |
CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures.
|
18319072 |
2008 |
Cerebellar Ataxia
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
CABC1/ADCK3 mutations were detected in four patients and two siblings presenting with cerebellar ataxia, epilepsy and muscle symptoms.
|
22036850 |
2012 |
Cerebellar Ataxia
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
A molecular diagnosis could be established for 57 patients; 36 were affected with FRDA, seven with ataxia plus oculomotor apraxia type 2 (AOA2), four with AT, three with ataxia plus oculomotor apraxia type 1 (AOA1), three with Marinesco-Sjögren syndrome, two with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), one with ataxia with vitamin E deficiency (AVED) and one with autosomal recessive cerebellar ataxia type 2 (ARCA2).
|
19440741 |
2010 |
Cerebellar Ataxia
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures.
|
18319072 |
2008 |
Cerebellar Ataxia
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
A mutation in the ADCK3/Coq8 gene (R347X) was identified in a female patient with ataxia, seizures and markedly reduced COQ10 levels.
|
21873089 |
2012 |
Cerebellar Ataxia
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
We show that mice lacking COQ8A develop a slowly progressive cerebellar ataxia linked to Purkinje cell dysfunction and mild exercise intolerance, recapitulating ARCA2.
|
27499294 |
2016 |
Cerebellar Ataxia
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Five additional mutations in ADCK3 were found in three patients with sporadic ataxia, including one known to have CoQ(10) deficiency in muscle.
|
18319074 |
2008 |
Cerebellar Ataxia
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
The combination of writing difficulty, dystonia and ataxia is a distinctive constellation that is reminiscent of a previously described clinical entity called Dystonia Ataxia Syndrome (DYTCA) and is an important clinical indicator of COQ8A mutations, even when ataxia is mild or absent.
|
31621627 |
2019 |
Cerebellar Ataxia
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
However, CoQ10 deficiency is a rare cause of cerebellar ataxia and ADCK3 is the most frequent gene associated with this defect.
|
26818466 |
2016 |
Cerebellar Ataxia
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Eight additional patients with AR cerebellar ataxia and atrophy were screened for mutations in the CABC1/ADCK3 gene.
|
20580948 |
2010 |
Cerebellar Ataxia
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Cerebellar ataxia is common in myoclonic epilepsy with ragged red fibers (MERFF) due to mutations in the mitochondrial transfer RNA (tRNA) lysine gene, in Kearns-Sayre syndrome due to mtDNA deletions, in sensory ataxic neuropathy with dysarthria and ophthalmoplegia (SANDO) due to nuclear POLG1 gene mutations, and also in ARCA2, Friedreich's ataxia, SPG7, SCA28 and autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) due to mutations in nuclear genes involved in mitochondrial morphology or function.
|
27476418 |
2017 |