|
Cerebellar Ataxia
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Friedreich's ataxia (FRDA) is a cerebellar ataxia due to GAA repeat expansions in the FXN gene, and in affected patients, lower left ventricular ejection fraction (LVEF) leads to poorer prognosis.
|
31650522 |
2020 |
|
Cerebellar Ataxia
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Friedreich ataxia (FRDA), the most common inherited ataxia, is caused by transcriptional silencing of the nuclear FXN gene, encoding the essential mitochondrial protein frataxin.
|
31317428 |
2019 |
|
Cerebellar Ataxia
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Quantitative signal intensity ratio (mean ± standard deviation) of the AOA group (98·96 ± 5·37%) was significantly higher than in control subjects group (76.40 ± 8.34%; p < 0.001), dominant genetic ataxia group (81·15 ± 9·94%; p < 0·001), and Friedreich ataxia and ataxia with vitamin E deficit group (87·56 ± 2·78%; p < 0·02).
|
30599859 |
2019 |
|
Cerebellar Ataxia
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Twenty-four workers (W) and 58 non-workers (NW) were recruited: 34 with autosomal dominant ataxia and 48 with autosomal recessive ataxia (27 with Friedreich ataxia and 21 with sporadic adult-onset ataxia of unknown etiology).
|
31468336 |
2019 |
|
Cerebellar Ataxia
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Friedreich ataxia (FRDA) is the most common autosomal recessive ataxia in Caucasian populations.
|
31243663 |
2019 |
|
Cerebellar Ataxia
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Although ataxia can be a symptom of many common conditions, the focus here is on the progressive ataxias, and include hereditary ataxia (e.g. spinocerebellar ataxia (SCA), Friedreich's ataxia (FRDA)), idiopathic sporadic cerebellar ataxia, and specific neurodegenerative disorders in which ataxia is the dominant symptom (e.g. cerebellar variant of multiple systems atrophy (MSA-C)).
|
30786918 |
2019 |
|
Cerebellar Ataxia
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
A major feature of FRDA is frataxin deficiency with the loss of large sensory neurons of the dorsal root ganglia (DRG), namely proprioceptive neurons, undergoing dying-back neurodegeneration with progression to posterior columns of the spinal cord and cerebellar ataxia.
|
30761510 |
2019 |
|
Cerebellar Ataxia
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Friedreich's ataxia is an autosomal-recessive cerebellar ataxia caused by mutation of the frataxin gene, resulting in decreased frataxin expression, mitochondrial dysfunction, and oxidative stress.
|
30624801 |
2019 |
|
Cerebellar Ataxia
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Friedreich ataxia (FRDA), an autosomal recessive neurodegenerative disease caused by mutations in the gene encoding for the mitochondrial protein frataxin, is characterized by ataxia and gait instability, immobility, and eventual death.
|
30294800 |
2018 |
|
Cerebellar Ataxia
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
For patients with Friedreich ataxia or spinocerebellar ataxia (SCA), riluzole probably improves ataxia signs at 12 months (1 Class I study).
|
29440566 |
2018 |
|
Cerebellar Ataxia
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Friedreich's ataxia (FRDA) is the most important recessive ataxia in the Caucasian population.
|
29563863 |
2018 |
|
Cerebellar Ataxia
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
The main conditions combining diabetes and cerebellar ataxia are Friedreich ataxia, ataxia associated with anti-GAD antibodies, autoimmune polyglandular syndromes, aceruloplasminemia, and cerebellar ataxia associated with hypogonadism (especially Holmes ataxia/Boucher-Neuhäuser syndrome).
|
29891071 |
2018 |
|
Cerebellar Ataxia
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
<b>Background:</b> Friedreich's ataxia (FRDA) is the most common autosomal recessive ataxia.
|
30425621 |
2018 |
|
Cerebellar Ataxia
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
These include Friedreich ataxia, spastic paraplegia type 7-related ataxia, autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) and spectrin repeat-containing nuclear envelope protein (SYNE)-related ataxia.
|
29891078 |
2018 |
|
Cerebellar Ataxia
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Friedreich's ataxia (FRDA) represents the most frequent type of autosomal-recessively inherited ataxia and is caused by the deficiency of frataxin, a mitochondrial protein.
|
29329987 |
2018 |
|
Cerebellar Ataxia
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Pathogenic expansions of cytosine-adenine-guanine (CAG) encoding polyglutamine tracts account for the largest proportion of autosomal dominant cerebellar ataxias, while GAA expansion in the first introns of frataxin gene is the commonest cause of autosomal recessive cerebellar ataxias.
|
30152109 |
2018 |
|
Cerebellar Ataxia
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Using the GFAP promoter expressed by multipotential stem cells during development and mostly by astrocytes in the adult, we ablated Fxn in a time-dependent manner in mice (FGKO mice) and found severe ataxia and early death when Fxn was eliminated during development, but not when deleted in the adult.
|
28286293 |
2017 |
|
Cerebellar Ataxia
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Friedreich ataxia (FRDA) is the most important autosomal recessive ataxia in the Caucasian population.
|
28838288 |
2017 |
|
Cerebellar Ataxia
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
The loss of function mutations (biallelic) in frataxin (FXN) has primarily been implicated in Friedreich's ataxia (FRDA), an autosomal recessive cerebellar ataxia.
|
26321457 |
2015 |
|
Cerebellar Ataxia
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Friedreich's ataxia (FRDA), the most common inherited ataxia in the Caucasian population, is a multisystemic disease caused by a significant decrease in the frataxin level.
|
26158631 |
2015 |
|
Cerebellar Ataxia
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
It suggests that FRDA is a very rare cause of inheritance ataxia and FRDA genetic analysis should not be used as a routine genetic diagnosis test in China.
|
25765228 |
2015 |
|
Cerebellar Ataxia
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
We also assessed the safety and tolerability of nicotinamide, used chromatin immunoprecipitation to investigate changes in chromatin structure at the FXN gene locus, and assessed the effect of nicotinamide treatment on clinical scales for ataxia.
|
24794816 |
2014 |
|
Cerebellar Ataxia
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Friedreich's ataxia (FRDA) is the common cause of ataxia often associated with the expansion of a GAA repeat in intron 1 of the frataxin gene (FXN).
|
24011957 |
2014 |
|
Cerebellar Ataxia
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Friedreich ataxia (FA) is the most common ataxia and results from an expanded GAA repeat in the first intron of FXN.
|
22522441 |
2012 |
|
Cerebellar Ataxia
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Friedreich's ataxia (FRDA) is the most common inherited human ataxia and is caused by a deficiency in the mitochondrial protein frataxin.
|
22394676 |
2012 |