|
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 |
|
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 |
|
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 |
|
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 |
|
Ataxia
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Friedreich ataxia (FRDA) is the most common autosomal recessive ataxia in Caucasian populations.
|
31243663 |
2019 |
|
Ataxia
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Friedreich's ataxia (FRDA) is the most important recessive ataxia in the Caucasian population.
|
29563863 |
2018 |
|
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 |
|
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 |
|
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 |
|
Ataxia
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
<b>Background:</b> Friedreich's ataxia (FRDA) is the most common autosomal recessive ataxia.
|
30425621 |
2018 |
|
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 |
|
Ataxia
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Friedreich ataxia (FRDA) is the most important autosomal recessive ataxia in the Caucasian population.
|
28838288 |
2017 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
Ataxia
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Previous studies have demonstrated olfactory deficit in SCA2, Friedreich's ataxia and in small groups of ataxia of diverse aetiology.
|
22791905 |
2012 |
|
Ataxia
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Established diagnoses included SCA1, SCA2, SCA3 and SCA6 mutations, Friedreich's ataxia, and one rare case of ataxia associated with anti-glutamic acid decarboxylase antibodies.
|
21892625 |
2012 |
|
Ataxia
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Friedreich ataxia is the most common human ataxia and results from inadequate production of the frataxin protein, most often the result of a triplet expansion in the nuclear FXN gene.
|
22764179 |
2012 |
|
Ataxia
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Sixteen patients with autosomal dominant (spinocerebellar ataxia, SCA1 or 2) or recessive (Friedreich's ataxia, FRDA) ataxia were studied.
|
21717229 |
2012 |
|
Ataxia
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Friedreich ataxia (FRDA) is the most common inherited ataxia caused primarily by an intronic GAA.TTC triplet repeat expansion in the frataxin (FXN) gene.
|
22764244 |
2012 |
|
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 |
|
Ataxia
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
In 1996, a link was identified between Friedreich's ataxia (FRDA), the most common inherited ataxia in men, and alterations in the gene encoding frataxin (FXN).
|
22382366 |
2012 |
|
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 |