|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
Bovine CACNA1A gene and comparative analysis of the CAG repeats associated to human spinocerebellar ataxia type-6.
|
16876337 |
2006 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Spinocerebellar ataxia type 6 (SCA6) is due to small expansions of a CAG repeat at the 3' end of the CACNA1A gene, coding for the alpha(1A) subunit of voltage-gated calcium channels type P/Q, expressed in the cerebellar Purkinje and granule cells.
|
11719255 |
2002 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
In view of the known role of p62 in protein degradation as well as aggresome/sequestosome formation, the p62 aggregate formation observed in the present study suggests that SCA6 not only is associated with an impairment of the calcium channel function and an elongated polyglutamine stretch in CACNA1A, but also with a defective protein handling by the protein quality control system.
|
19788049 |
2009 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
Apart from spinocerebellar ataxia type 6 and 12 (SCA6 and SCA12), these CAG-repeat diseases, as well as Huntington disease-like 2 (HDL2) and SCA8, can be neuropathologically identified using 1C2 polyglutamine antibodies.
|
28987184 |
2017 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Expansion of the CAG/polyQ region of CACNA1A occurs within α1ACT and leads to ataxia.There are few animal models of SCA6.
|
25954029 |
2015 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
CACNA1A mutations are responsible for Familial Hemiplegic Migraine (FHM) type 1, Episodic Ataxia (EA) type 2 and Spinocerebellar Ataxia type 6.
|
18976783 |
2009 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Thirteen patients with SCA6 were detected to have elongated CAG in CACNL1A4.
|
10601803 |
2000 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Spinocerebellar ataxia type 6 (SCA6) was recently identified as a form of autosomal dominant cerebellar ataxia associated with small expansions of the trinucleotide repeat (CAG)n in the gene CACNL1A4 on chromosome 19p13, which encodes the alpha1 subunit of a P/Q-type voltage-gated calcium channel.
|
9403487 |
1997 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Similar differences were found among a single gene group, comparing 23 patients with CACNA1A expansions (spinocerebellar ataxia 6) to 22 patients with CACNA1A point mutations, which had lower average age at onset (25.2 versus 47.3 years) with longer disease duration (18.7 versus 10.9), but lower severity indexes (0.39 versus 0.44), indicating slower progression of the disease.
|
28444220 |
2017 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the calcium channel voltage dependent P/Q-type alpha-1A subunit (CACNA1A) can cause different neurological disorders which share a wide range of symptoms, including episodic ataxia type 2 (EA2), familial hemiplegic migraine (FHM1) and progressive spinocerebellar ataxia (SCA6).
|
20682717 |
2010 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
CACNA1A loss-of-function mutations classically present as episodic ataxia type 2 (EA2), with brief episodes of ataxia and nystagmus, or with progressive spinocerebellar ataxia (SCA6).
|
25735478 |
2015 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
Spinocerebellar ataxia type 6 (SCA 6) is caused by an abnormal expansion of a CAG repeat in CACNA1A, which encodes the alpha 1A subunit.
|
17489948 |
2007 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Familial hemiplegic migraine type 1, episodic ataxia type 2, and spinocerebellar ataxia type 6 are distinct neurological disorders associated with mutations in the CACNA1A gene.
|
25266619 |
2014 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Here, we studied the cerebellar gene expression patterns of young Sca6-MPI(118Q/118Q) knockin (KI) mice, which expressed mutant Cav2.1 from an endogenous locus and recapitulated many phenotypic features of human SCA6.
|
26034136 |
2015 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Downbeat nystagmus in two siblings with spinocerebellar ataxia type 6 (SCA 6).
|
9849799 |
1998 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
Analysis of CAG-repeat expansion in the alpha1A-voltage-dependent calcium channel (CACNL1A4) gene lying in 19p13.1, recently identified among 8 small American kindreds with ADPCA (spinocerebellar ataxia type 6 [SCA6]), revealed that 8 of the 15 families studied had similar, very small expansion in this gene: all affected individuals had larger alleles (range of CAG repeats 21-25), compared with alleles observed in neurologically normal Japanese (range 5-20 repeats).
|
9311738 |
1997 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Spinocerebellar ataxia type 6 (SCA6) is one such midlife-onset disorder in which the mutated gene, CACNA1A, is implicated in cerebellar development.
|
27531396 |
2017 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
They were genetically analysed as two spinocerebellar ataxia type 6 (SCA 6), one SCA 1, and one SCA 7.
|
10674722 |
1999 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Familial hemiplegic migraine type 1, spinocerebellar ataxia type 6 (SCA6) and episodic ataxia type 2 (EA2) are allelic disorders associated with mutations in the CACNA1A gene, which encodes the alpha1 subunit of the P/Q-type calcium channel (Ca(V)2.1).
|
17292920 |
2007 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Spinocerebellar ataxia 6 (SCA6) is an autosomal dominant spinocerebellar degeneration caused by the expansion of the polymorphic CAG repeat in the human alpha1A voltage-dependent calcium channel subunit gene (CACNL1A4 gene).
|
9259274 |
1997 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
By means of transient linear acceleration of the whole body along the interaural axis, we examined the LVOR in six patients with hereditary cerebellar ataxia due to mutations of the calcium channel gene CACNA1A, five with spinocerebellar ataxia type 6 (SCA6) and one with episodic ataxia type 2 (EA-2).
|
11701595 |
2001 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Spinocerebellar ataxia type 6 (SCA6), episodic ataxia type 2 (EA2) and familial hemiplegic migraine type 1 (FHM1) are allelic disorders of the gene CACNA1A encoding the P/Q subunit of a voltage gated calcium channel.
|
24486772 |
2014 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the CACNA1A gene that encodes the pore-forming alpha1 subunit of human voltage-gated CaV2.1 (P/Q-type) Ca2+ channels cause several autosomal-dominant neurologic disorders, including familial hemiplegic migraine type 1 (FHM1), episodic ataxia type 2, and spinocerebellar ataxia type 6 (SCA6).
|
20204399 |
2010 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Spinocerebellar ataxia type 6 (SCA6), an autosomal dominant, progressive disease, arises from trinucleotide repeat expansions present in the coding region of CACNA1A (chromosome 19p13).
|
11717352 |
2001 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
Polyglutamine repeats of spinocerebellar ataxia 6 impair the cell-death-preventing effect of CaV2.1 Ca2+ channel--loss-of-function cellular model of SCA6.
|
15474358 |
2004 |