|
Henoch-Schoenlein Purpura
|
0.100 |
Biomarker
|
disease |
BEFREE |
<b>Results:</b> Fifty four patients with genetically confirmed HSP diagnosis, 36 with spastic paraplegia type 4 (SPG4), 5 SPG11, 4 SPG5, 4 cerebrotendinous xanthomatosis (CTX), 3 SPG7 and 2 SPG3A, and 10 healthy, unrelated control subjects, with similar age, sex, and education participated in the study.
|
31231294 |
2019 |
|
Henoch-Schoenlein Purpura
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
SPG3A-linked HSP caused by a R239C mutation has been reported to present a pure phenotype confined to impairment of the corticospinal tract.
|
23233086 |
2013 |
|
Henoch-Schoenlein Purpura
|
0.100 |
Biomarker
|
disease |
BEFREE |
ATL1 is also one of causative genes of HSP.
|
29310658 |
2018 |
|
Henoch-Schoenlein Purpura
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A heterozygous mutation in a gene involved in an autosomal dominant HSP (ATL1/SPG3A) was also identified in one additional family.
|
27601211 |
2016 |
|
Henoch-Schoenlein Purpura
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
AD HSP is genetically heterogeneous, and three loci have been identified so far: SPG3 maps to chromosome 14q, SPG4 to 2p, and SPG4a to 15q.
|
9042923 |
1997 |
|
Henoch-Schoenlein Purpura
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Evidence was obtained for linkage to a locus on chromosome 14q that is distinct from the SPG3 locus for autosomal dominant HSP (D14S77: lod score of 4.20 at zero recombination).
|
11342696 |
2001 |
|
Henoch-Schoenlein Purpura
|
0.100 |
Biomarker
|
disease |
BEFREE |
Hence, patients with recessive forms of HSP should also be tested for the Atlastin 1 gene.
|
26888483 |
2016 |
|
Henoch-Schoenlein Purpura
|
0.100 |
Biomarker
|
disease |
BEFREE |
Here, we conducted mutational analysis of the SPAST and/or ATL1 genes in 206 unrelated patients with HSP.
|
26208798 |
2015 |
|
Henoch-Schoenlein Purpura
|
0.100 |
Biomarker
|
disease |
BEFREE |
In this review, we describe the current knowledge about the molecular mechanism of atlastin function and its potential role in HSP.
|
21550242 |
2011 |
|
Henoch-Schoenlein Purpura
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Laboratory analysis showed that the disorder was not caused by mutations in genes that cause SCA-1, SCA-2, SCA-3, SCA-6, SCA-7, SCA-8, and SCA-12; not linked to other known loci for autosomal dominant ataxia (SCA-4, SCA-5, SCA-10, SCA-11, SCA-13, SCA-14, and SCA-16); and not linked to known loci for autosomal dominant hereditary spastic paraplegia (HSP) (SPG-3, SPG-4, SPG-6, SPG-8, SPG-9, SPG-10, SPG-12, and SPG-13) or autosomal recessive HSP SPG-7.
|
11839840 |
2002 |
|
Henoch-Schoenlein Purpura
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutant alleles of Atlastin-1 found in Hereditary Spastic Paraplegia (HSP) patients show similar ER phenotypes, suggesting that neuronal ER impairment contributes to HSP disease pathogenesis.
|
30718476 |
2019 |
|
Henoch-Schoenlein Purpura
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations in 3 genes encoding proteins that work together to shape the ER into sheets and tubules - receptor accessory protein 1 (REEP1), atlastin-1 (ATL1), and spastin (SPAST) - have been found to underlie many cases of HSP in Northern Europe and North America.
|
22232211 |
2012 |
|
Henoch-Schoenlein Purpura
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations in the SPAST (SPG4) and ATL1 (SPG3A) genes are responsible for about 50% of pure AD-HSP patients.
|
25454648 |
2014 |
|
Henoch-Schoenlein Purpura
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the SPG4 gene (spastin) and in the SPG3A gene (atlastin) account for the majority of 'pure' autosomal dominant form of hereditary spastic paraplegia (HSP).
|
18644145 |
2008 |
|
Henoch-Schoenlein Purpura
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations spread across atlastin isoform 1 (atlastin-1) have been identified in patients suffering from hereditary spastic paraplegia (HSP), a neurodegenerative disorder affecting motor neuron function in the lower extremities.
|
21220294 |
2011 |
|
Henoch-Schoenlein Purpura
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus.
|
14695538 |
2004 |
|
Henoch-Schoenlein Purpura
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our combined findings show that homozygosity for the ATL1 missense variant remains the only plausible cause of HSP, whereas heterozygous carriers are asymptomatic.
|
24473461 |
2014 |
|
Henoch-Schoenlein Purpura
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our results add to a growing number of HSP disease-associated variants and confirm the high prevalence of atlastin, spastin, and REEP1 mutations in the HSP patient population.
|
20718791 |
2011 |
|
Henoch-Schoenlein Purpura
|
0.100 |
Biomarker
|
disease |
BEFREE |
Overall, the comparison of the clinical data for all SPG3A-HSP families reported to date failed to reveal any genotype/phenotype correlation as demonstrated for other forms of AD-HSP.
|
15517445 |
2004 |
|
Henoch-Schoenlein Purpura
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Seven families with six different SPG3A mutations were identified among 106 with autosomal dominant hereditary spastic paraplegia (HSP).
|
16401858 |
2006 |
|
Henoch-Schoenlein Purpura
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
SPG4, SPG3A and SPG31 are the three leading causes of autosomal dominant (AD) HSPs.
|
25421405 |
2014 |
|
Henoch-Schoenlein Purpura
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
SPG7, SPG4 and SPG3A are some of the autosomal genes recently found as mutated in recessive or dominant forms of HSP in childhood.
|
20550563 |
2011 |
|
Henoch-Schoenlein Purpura
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Taken together, these findings indicate that a deficit in the membrane fusion activity of atlastin1 may be a key contributor, but is not required, for HSP causation.
|
25761634 |
2015 |
|
Henoch-Schoenlein Purpura
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The family with the ATL1 c.1204T>G mutation exhibited male-lethality, female infancy-onset, and pseudo- X-linked dominant transmission, which had never been previously reported for HSP.
|
26600529 |
2015 |
|
Henoch-Schoenlein Purpura
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The mean age of AD-HSP onset for ATL1 mutation-positive patients was earlier than patients with SPAST, REEP1 mutations.
|
31745725 |
2019 |