|
Ataxia, Spinocerebellar
|
0.100 |
Biomarker
|
disease |
BEFREE |
This meta-analysis provides a quantitative review and reappraisal of MRS findings in spinocerebellar ataxias (SCA) and Friedreich ataxia (FA) available to date.
|
31838195 |
2020 |
|
Ataxia, Spinocerebellar
|
0.100 |
GeneticVariation
|
disease |
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, Spinocerebellar
|
0.100 |
Biomarker
|
disease |
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, Spinocerebellar
|
0.100 |
Biomarker
|
disease |
BEFREE |
Current knowledge of histone abnormalities in cerebellar diseases such as Friedreich ataxia and spinocerebellar ataxias is reviewed, including implications for new therapeutic approaches to these degenerative diseases.
|
29891061 |
2018 |
|
Ataxia, Spinocerebellar
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The conventional method using genomic DNA and single-step Blood-Direct PCR (BD-PCR) method with just 2μl of whole blood sample were tested to amplify triplet repeat expansion in genes related to spinocerebellar ataxia (SCA) types 1, 2, 3, 12 and Friedreich's ataxia (FRDA).
|
28716278 |
2017 |
|
Ataxia, Spinocerebellar
|
0.100 |
Biomarker
|
disease |
BEFREE |
In this Review, we describe the various afferent visual system and other ophthalmic features of inherited neurodegenerative disorders, including the muscular dystrophies, Friedreich ataxia, the spinocerebellar ataxias, hereditary spastic paraplegia, Charcot-Marie-Tooth disease, and other conditions.
|
24840976 |
2014 |
|
Ataxia, Spinocerebellar
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In the United States, Athena Diagnostics holds either a patent or an exclusive license to a patent in the case of six spinocerebellar ataxia variants (spinocerebellar ataxia 1-3 and 6-8) and two other hereditary ataxias (Friedreich's Ataxia and Early Onset Ataxia).
|
20393313 |
2010 |
|
Ataxia, Spinocerebellar
|
0.100 |
Biomarker
|
disease |
BEFREE |
Deficiency in the nuclear-encoded mitochondrial protein frataxin causes Friedreich ataxia (FRDA), a progressive neurodegenerative disorder associating spinocerebellar ataxia and cardiomyopathy.
|
18725397 |
2008 |
|
Ataxia, Spinocerebellar
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The hereditary ataxias are further divided into the autosomal recessive ataxias, the most frequent of which is Friedreich's ataxia, and the autosomal dominant spinocerebellar ataxias.
|
18267270 |
2007 |
|
Ataxia, Spinocerebellar
|
0.100 |
Biomarker
|
disease |
BEFREE |
A mounting number of inherited human disorders, including Huntington disease, myotonic dystrophy, fragile X syndrome, Friedreich ataxia and several spinocerebellar ataxias, have been associated with the expansion of unstable simple sequence DNA repeats.
|
16500684 |
2006 |
|
Ataxia, Spinocerebellar
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Friedreich's ataxia (FRDA), the most common subtype of early onset hereditary spinocerebellar ataxia (SCA), is an autosomal recessive neurodegenerative disorder caused by unstable GAA tri-nucleotide expansions in the first intron of FRDA gene located at 9q13-q21.1 position.
|
16644517 |
2006 |
|
Ataxia, Spinocerebellar
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The Friedreich's ataxia mutation was found in five patients (4%), the spinocerebellar ataxia (SCA) 2 mutation in one (1%), the SCA3 mutation in two (2%) and the SCA6 mutation in seven (6%).
|
11960886 |
2002 |
|
Ataxia, Spinocerebellar
|
0.100 |
Biomarker
|
disease |
BEFREE |
We examined six patients with Friedreich's ataxia, three patients with spinocerebellar ataxia (SCA) type 1, seven patients with SCA2, 12 patients with SCA3, nine patients with SCA6 and 14 healthy controls.
|
11844730 |
2002 |
|
Ataxia, Spinocerebellar
|
0.100 |
Biomarker
|
disease |
BEFREE |
We used single photon emission tomography to study regional cerebral perfusion in patients with different forms of spinocerebellar degeneration: 6 patients with Friedreich's ataxia (FA), 6 with early-onset cerebellar ataxia with retained tendon reflexes (EOCA), 5 with autosomal dominant cerebellar ataxia type 1 (ADCA I) and 11 with idiopathic late-onset cerebellar ataxia (ILOCA).
|
9758299 |
1998 |
|
Ataxia, Spinocerebellar
|
0.100 |
Biomarker
|
disease |
BEFREE |
Analysis of spinocerebellar ataxia types 1, 2, 3, and 6, dentatorubral-pallidoluysian atrophy, and Friedreich's ataxia genes in spinocerebellar ataxia patients in the UK.
|
9429138 |
1997 |
|
Ataxia, Spinocerebellar
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Molecular analysis of spinocerebellar ataxias revealed a pathologic GAA expansion in the gene encoding frataxin in six adult patients from three families.
|
9339708 |
1997 |