|
Henoch-Schoenlein Purpura
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This may suggest a different disease mechanism with more prominent axonal degeneration in these two types of HSP when compared with HSP due to spastin and atlastin mutations.
|
16143870 |
2005 |
|
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
These data suggest that spastin and atlastin function in the same biochemical pathway and that it is the cytoplasmic function of spastin which is important for the pathogenesis of HSP.
|
16339213 |
2006 |
|
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 |
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 |
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 |
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 |
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 |
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 |
|
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 |
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 |
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 |
ATL1 is also one of causative genes of HSP.
|
29310658 |
2018 |
|
Henoch-Schoenlein Purpura
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These results suggest that SOCE plays an important role in neuronal regeneration, and mutations in ATL1 may cause HSP, partly by undermining SOCE.
|
28240257 |
2017 |
|
Henoch-Schoenlein Purpura
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The most common autosomal dominant (AD) forms of HSP are SPG4 (SPAST gene) and SPG3 (ATL1 gene).
|
31594988 |
2019 |
|
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 |
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 |
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 |
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 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 |
GeneticVariation
|
disease |
BEFREE |
The SPG4 and SPG3A analysis allowed the identification of 10 novel mutations and the genetic diagnosis of approximately a quarter of our AD-HSP families.
|
18664244 |
2009 |
|
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 |
We showed that CPT1C, which localizes to the endoplasmic reticulum, is expressed in motor neurons and interacts with atlastin-1, an endoplasmic reticulum protein encoded by the ATL1 gene known to be mutated in pure HSPs.
|
25751282 |
2015 |