Spinocerebellar Ataxia Type 5
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous missense variants in the SPTBN2 gene, encoding the non-erythrocytic beta spectrin 2 subunit (beta-III spectrin), have been identified in autosomal dominant spinocerebellar ataxia type 5 (SCA5), a rare adult-onset neurodegenerative disorder characterized by progressive cerebellar ataxia, whereas homozygous loss of function variants in SPTBN2 have been associated with early onset cerebellar ataxia and global developmental delay (SCAR14).
|
31066025 |
2019 |
Spinocerebellar Ataxia Type 5
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Two patients with infantile-onset SCA5 associated with another novel heterozygous SPTBN2 mutation have recently been reported; these SPTBN2 mutations, which may have a significant impact on protein function, were located in the second spectrin.
|
30898343 |
2019 |
Spinocerebellar Ataxia Type 5
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
β-III-spectrin spinocerebellar ataxia type 5 mutation reveals a dominant cytoskeletal mechanism that underlies dendritic arborization.
|
29078305 |
2017 |
Spinocerebellar Ataxia Type 5
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here we investigated the molecular consequence of a SCA5 missense mutation that results in a L253P substitution in the actin-binding domain (ABD) of β-III-spectrin.
|
26883385 |
2016 |
Spinocerebellar Ataxia Type 5
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To date, four families with spinocerebellar ataxia type 5 (SCA5) with four distinct mutations in the spectrin, beta, nonerythrocytic 2 gene (SPTBN2) have been reported worldwide.
|
25142508 |
2014 |
Spinocerebellar Ataxia Type 5
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These results indicate that mutant β-III spectrin causes mislocalization and dysfunction of mGluR1α at dendritic spines and connects SCA5 with other disorders involving glutamatergic dysfunction and synaptic plasticity abnormalities.
|
25057192 |
2014 |
Spinocerebellar Ataxia Type 5
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Two SCA5-associated mutations of β-III spectrin both reduce ankyrin R levels at the cell membrane.
|
24603075 |
2014 |
Spinocerebellar Ataxia Type 5
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Two deletions within the SPTBN2 SPEC domains (E532_M544del and L629_R634delinsW) have been previously reported to cause SCA5, but this is the first missense mutation in this region of the protein shown to likely be pathogenic.
|
22843192 |
2013 |
Spinocerebellar Ataxia Type 5
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Spinocerebellar ataxia type 5, a dominant spinocerebellar ataxia associated with mutations involving β-III spectrin (SPTBN2), has been described in 3 families.
|
22914369 |
2013 |
Spinocerebellar Ataxia Type 5
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
(2006) discovered that β-III spectrin (SPTBN2) mutations cause spinocerebellar ataxia type 5 (SCA5) in the American kindred and two additional independently reported SCA5 families.
|
21827906 |
2012 |
Spinocerebellar Ataxia Type 5
|
1.000 |
Biomarker
|
disease |
BEFREE |
In addition, the identification of SPARCA1 and normal heterozygous carriers of the stop codon in SPTBN2 provides insights into the mechanism of molecular dominance in SCA5 and demonstrates that the cell-specific repertoire of spectrin subunits underlies a novel group of disorders, the neuronal spectrinopathies, which includes SCA5, SPARCA1, and a form of West syndrome.
|
23236289 |
2012 |
Spinocerebellar Ataxia Type 5
|
1.000 |
Biomarker
|
disease |
MGD |
Loss of beta-III spectrin leads to Purkinje cell dysfunction recapitulating the behavior and neuropathology of spinocerebellar ataxia type 5 in humans.
|
20371805 |
2010 |
Spinocerebellar Ataxia Type 5
|
1.000 |
Biomarker
|
disease |
BEFREE |
Loss of beta-III spectrin leads to Purkinje cell dysfunction recapitulating the behavior and neuropathology of spinocerebellar ataxia type 5 in humans.
|
20371805 |
2010 |
Spinocerebellar Ataxia Type 5
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cell culture studies using beta-III spectrin with a mutation associated with SCA5 (L253P) reveal that mutant protein, instead of being found at the cell membrane, appears trapped in the cytoplasm associated with the Golgi apparatus.
|
20603325 |
2010 |
Spinocerebellar Ataxia Type 5
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Spinocerebellar ataxia type 5 (SCA5) is an autosomal dominant neurodegenerative disorder caused by mutations in the SPBTN2 gene encoding beta-III-spectrin.
|
20368622 |
2010 |
Spinocerebellar Ataxia Type 5
|
1.000 |
Biomarker
|
disease |
MGD |
Targeted deletion of betaIII spectrin impairs synaptogenesis and generates ataxic and seizure phenotypes.
|
20231455 |
2010 |
Spinocerebellar Ataxia Type 5
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We have discovered that beta-III spectrin (SPTBN2) mutations cause spinocerebellar ataxia type 5 (SCA5) in an 11-generation American kindred descended from President Lincoln's grandparents and two additional families.
|
16429157 |
2006 |
Spinocerebellar Ataxia Type 5
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
We have discovered that beta-III spectrin (SPTBN2) mutations cause spinocerebellar ataxia type 5 (SCA5) in an 11-generation American kindred descended from President Lincoln's grandparents and two additional families.
|
16429157 |
2006 |
Spinocerebellar Ataxia Type 5
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Spinocerebellar Ataxia Type 5
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Spinocerebellar Ataxia Type 5
|
1.000 |
Biomarker
|
disease |
CTD_human |
|
|
|
Spinocerebellar Ataxia Type 5
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Spinocerebellar Ataxia Type 5
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|