|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
CACNA1A mutations underlie three allelic disorders: familial hemiplegic migraine type 1 (FHM1), episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6).
|
30063100 |
2019 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia.
|
29053796 |
2017 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Different CACNA1A mutations have been identified in other autosomal dominant conditions: mutations leading to a truncated protein in episodic ataxia type 2 (EA2), small expansions of a CAG trinucleotide in spinocerebellar ataxia type 6 and also in three families with EA2 features, and, finally, a missense mutation in a single family suffering from episodic ataxia and severe progressive PCA.
|
9915947 |
1999 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
One family with spinocerebellar ataxia type 6 and 2 families with other CACNA1A gene mutations were identified.
|
24898624 |
2014 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, distinct types of CACNA1A mutations have been identified in familial hemiplegic migraine (missense mutations) and spinocerebellar ataxia type 6 (SCA-6) progressive cerebellar ataxia (expanded CAG repeats).
|
10371528 |
1999 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the 1A-subunit of the brain P/Q-type calcium channel gene CACNA1A are responsible for spinocerebellar ataxia type 6 (SCA6), familial haemiplegic migraine (FHM) and episodic ataxia type 2 (EA2).
|
19182766 |
2009 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Microsatellite analysis of the CACNA1A gene indicated a founder effect for SCA6 within this region.
|
15122720 |
2004 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The molecular findings in this large family confirm the expansion of the CAG repeat in the CACNA1A gene as the cause of SCA6 and the high meiotic stability of the repeat.
|
10051016 |
1999 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Moreover, whereas healthy subjects (n = 31) were found to be able to discriminate subtle differences in the kinematics of observed limb movements of others, patients suffering from spinocerebellar ataxia type 6 (SCA6; n = 21) were severely impaired in performing such tasks.
|
31747689 |
2019 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the brain specific P/Q type Ca2+ channel alpha1 subunit gene, CACNA1A, have been identified in three clinically distinct disorders, viz. episodic ataxia type 2 (EA-2), familial hemiplegic migraine (FHM) and spinocerebellar ataxia 6 (SCA6).
|
10987655 |
1999 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We describe the MRI findings in three Japanese patients with spinocerebellar ataxia type 6 (SCA6) in which a polymorphic CAG repeat was identified in the gene encoding the alpha 1A voltage-dependent P/Q-type Ca2+ channel subunit (CACNL1A4).
|
9592791 |
1998 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic expansions of the SCA6 locus are associated with a common CACNA1A haplotype across the globe: founder effect or predisposing chromosome?
|
18285829 |
2008 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in CACNA1A were previously described in familial hemiplegic migraine, episodic ataxia type 2, and spinocerebellar ataxia type 6.
|
18940563 |
2008 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These findings demonstrate phenotypic overlap between SCA6 and episodic ataxia type 2, which are both due to mutations in CACNL1A4.
|
19224313 |
2009 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p.
|
9302278 |
1997 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Missense and splice site mutations have been found in FHM and episodic ataxia type 2, respectively, whereas a CAG repeat in the CACNA1A gene was found expanded in patients with SCA6.
|
12707077 |
2003 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Progressive ataxia due to a missense mutation in a calcium-channel gene.
|
9345107 |
1997 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Familial hemiplegic migraine, episodic ataxia type 2 (EA2), and spinocerebellar ataxia type 6 are allelic disorders of the CACNA1A gene (coding for the alpha(1A) subunit of P/Q calcium channels), usually associated with different types of mutations (missense, protein truncating, and expansion, respectively).
|
11179022 |
2001 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Spinocerebellar ataxia type 6 (SCA6) is a neurodegenerative disorder caused by abnormal expansions of a trinucleotide CAG repeat in exon 47 of the CACNA1A gene, which encodes the alpha1A subunit of the P/Q-type voltage-gated calcium channel.
|
17395139 |
2007 |
|
Spinocerebellar Ataxia Type 6 (disorder)
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p.
|
9302278 |
1997 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4.
|
8898206 |
1996 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These data have implications for EA2 in humans, suggesting a haploinsufficiency mechanism at least for some of the CACNA1A mutations leading to a premature stop codon.
|
21440913 |
2011 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
We have identified a novel H1736L missense mutation in the CACNA1A gene associated with the EA2 phenotype.
|
15293273 |
2004 |
|
Episodic ataxia type 2 (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2.
|
11179022 |
2001 |
|
Episodic ataxia type 2 (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 |