Spastic paraplegia 8, autosomal dominant
|
0.740 |
GeneticVariation
|
disease |
UNIPROT |
Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases.
|
20833645 |
2010 |
Spastic paraplegia 8, autosomal dominant
|
0.740 |
GeneticVariation
|
disease |
UNIPROT |
Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment.
|
23881105 |
2013 |
Spastic paraplegia 8, autosomal dominant
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
To our knowledge, it's the first frame delete mutation causing shift mutation of KIAA0196 gene, resulting in the earliest onset of SPG8 in the world.
|
29768361 |
2018 |
Spastic paraplegia 8, autosomal dominant
|
0.740 |
GeneticVariation
|
disease |
UNIPROT |
Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene.
|
23455931 |
2013 |
Spastic paraplegia 8, autosomal dominant
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
Spastic paraplegia type 8 (SPG8) is an autosomal-dominant form of hereditary spastic paraplegia (AD-HSP) caused by a mutation in the KIAA0196 gene.
|
31814071 |
2020 |
Spastic paraplegia 8, autosomal dominant
|
0.740 |
GeneticVariation
|
disease |
CLINVAR |
A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort.
|
24065355 |
2013 |
Spastic paraplegia 8, autosomal dominant
|
0.740 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia.
|
17160902 |
2007 |
Spastic paraplegia 8, autosomal dominant
|
0.740 |
GeneticVariation
|
disease |
UNIPROT |
The hereditary spastic paraplegia protein strumpellin: characterisation in neurons and of the effect of disease mutations on WASH complex assembly and function.
|
23085491 |
2013 |
Spastic paraplegia 8, autosomal dominant
|
0.740 |
GeneticVariation
|
disease |
UNIPROT |
A novel strumpellin mutation and potential pitfalls in the molecular diagnosis of hereditary spastic paraplegia type SPG8.
|
25454649 |
2014 |
Spastic paraplegia 8, autosomal dominant
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
The N471D and several other point mutations of human strumpellin (Str; also known as WASHC5), a member of the Wiskott-Aldrich syndrome protein and SCAR homologue (WASH) complex, have been shown to cause a form of HSP known as spastic paraplegia 8 (SPG8).
|
30061306 |
2018 |
Spastic paraplegia 8, autosomal dominant
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
A total of nine mutations in KIAA0196, which encodes the WASH regulatory complex (SHRC) member strumpellin, have been reported in SPG8 patients so far.
|
26572744 |
2015 |
3C syndrome
|
0.610 |
GeneticVariation
|
disease |
CLINVAR |
A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort.
|
24065355 |
2013 |
3C syndrome
|
0.610 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort.
|
24065355 |
2013 |
Frontotemporal dementia
|
0.110 |
GeneticVariation
|
disease |
GWASCAT |
C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis.
|
24931836 |
2014 |
Amyotrophic Lateral Sclerosis
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis.
|
24931836 |
2014 |
Spastic Paraplegia, Hereditary
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8.
|
26572744 |
2015 |
Spastic Paraplegia, Hereditary
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
One of the retromer-interacting proteins, strumpellin, is mutated in hereditary spastic paraplegia, a progressive length-dependent axonopathy.
|
20923837 |
2010 |
Spastic Paraplegia, Hereditary
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
We describe the clinical and genetic findings in our patient with SPG8, which is a rare dominant hereditary spastic paraplegia.
|
26967522 |
2016 |
Spastic Paraplegia, Hereditary
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia.
|
17160902 |
2007 |
Henoch-Schoenlein Purpura
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
Spinal cord atrophy was more severe in SPG6 and SPG8 HSP subjects than in other types of HSP we studied.
|
16143870 |
2005 |
Henoch-Schoenlein Purpura
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
We present a novel strumpellin alteration in a small family with clinically pure HSP.
|
25454649 |
2014 |
Henoch-Schoenlein Purpura
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
The N471D and several other point mutations of human strumpellin (Str; also known as WASHC5), a member of the Wiskott-Aldrich syndrome protein and SCAR homologue (WASH) complex, have been shown to cause a form of HSP known as spastic paraplegia 8 (SPG8).
|
30061306 |
2018 |
Hereditary Autosomal Dominant Spastic Paraplegia
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
A novel pathogenic KIAA0196 mutation p.(Gly696Ala) was identified in two AD-HSP patients, who subsequently were shown to belong to a single large Dutch pedigree with more than 10 affected family members.
|
23455931 |
2013 |
Hereditary Autosomal Dominant Spastic Paraplegia
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the gene encoding strumpellin cause autosomal dominant hereditary spastic paraplegia (HSP), in which there is degeneration of corticospinal tract axons.
|
23085491 |
2013 |
Russell-Silver syndrome
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
A recent study of a Canadian cohort identified homozygous sequence variants in the KIAA0196 gene, which encodes the WASH complex subunit strumpellin, as a cause for a form of RSS/3C syndrome.
|
24916641 |
2015 |