|
Henoch-Schoenlein Purpura
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the spastin gene (<i>SPAST</i>) are the most common cause of HSP and typically present with a pure form.
|
28572275 |
2017 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
We describe a large, AD-HSP Sardinian family where 5 out of several living members harbored a novel deletion affecting also the 5'UTR of SPAST and resulting in reduced expression of DPY30, the gene located upstream SPAST in a head-to-head manner.
|
24690193 |
2014 |
|
Henoch-Schoenlein Purpura
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These observations indicate that de novo mutations can occur in SPG4, and that somatic mosaicism might account for intra-familial variation in SPG4-linked HSP.
|
17597328 |
2007 |
|
Henoch-Schoenlein Purpura
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Comparative sequence analysis indicates that spartin shares similarity with molecules involved in endosomal trafficking and with spastin, a molecule implicated in microtubule interaction that is commonly mutated in HSP.
|
12134148 |
2002 |
|
Henoch-Schoenlein Purpura
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations and deletions in the SPG4 gene are responsible for up to 40% of autosomal dominant hereditary spastic paraplegia (HSP).
|
17957230 |
2008 |
|
Henoch-Schoenlein Purpura
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in <i>SPG4</i>-encoding spastin cause hereditary spastic paraplegia (HSP).
|
30082270 |
2018 |
|
Henoch-Schoenlein Purpura
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We aimed to determine the frequency of SPAST gene mutations in our cohort of HSP patients.
|
23252998 |
2012 |
|
Henoch-Schoenlein Purpura
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
All 17 coding exons of the SPAST gene were Sanger sequenced in 327 patients from 263 independent families with suspected uncomplicated HSP.
|
27334366 |
2016 |
|
Henoch-Schoenlein Purpura
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Spastin, an ATPase belonging to the AAA family of proteins is most commonly mutated in autosomal dominant hereditary spastic paraplegias (HSP).
|
16602018 |
2006 |
|
Henoch-Schoenlein Purpura
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The frequency of SPG4 mutations detected in pure AD HSP was 33.3%, suggesting that screening of such patients for SPG4 mutations is worthwhile.
|
12552568 |
2003 |
|
Henoch-Schoenlein Purpura
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the spastin gene (SPAST) are responsible for SPG4 and account approximately for 50% of the dominantly inherited paraplegias with a pure HSP phenotype.
|
22960362 |
2012 |
|
Henoch-Schoenlein Purpura
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Adult-onset HSP is most commonly caused by mutations in SPAST, which encodes spastin a microtubule severing protein.
|
27229699 |
2016 |
|
Henoch-Schoenlein Purpura
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
SPG4 is the most frequent form of autosomal dominant and SPG11 of autosomal recessive HSP in Southern Brazil.
|
29246610 |
2017 |
|
Henoch-Schoenlein Purpura
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, we used a previously generated structural model of spastin as a framework to classify the missense mutations in the AAA domain from the HSP patients into different structural/functional groups.
|
18701882 |
2009 |
|
Henoch-Schoenlein Purpura
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The most frequent causes of autosomal dominant (AD) hereditary spastic paraplegias (HSP) (ADHSP) are mutations in the SPAST gene (SPG4 locus).
|
20461110 |
2010 |
|
Henoch-Schoenlein Purpura
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In 1999, mutations in the gene encoding the microtubule severing AAA ATPase spastin were identified as a major cause of a genetic neurodegenerative condition termed hereditary spastic paraplegia (HSP).
|
21888932 |
2012 |
|
Henoch-Schoenlein Purpura
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To provide the clinical and genetic characteristics of Dutch patients with HSP due to a SPAST mutation (SPG4).
|
20562464 |
2010 |
|
Henoch-Schoenlein Purpura
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, three different mutations in human SPAST gene at the equivalent position are known to cause HSP.
|
19714378 |
2010 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
The most common type of HSP is SPG4 with mutations in the SPAST gene, encoding spastin, which occurs in 40% of dominantly inherited cases and in ∼10% of sporadic cases.
|
22574173 |
2012 |
|
Henoch-Schoenlein Purpura
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Other features noted in this kindred including epilepsy, cognitive impairment, depression, and migraine did not segregate with the HSP phenotype or mutation, and therefore the significance of these features to SPG4 is unclear.
|
15667412 |
2004 |
|
Henoch-Schoenlein Purpura
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We characterized urinary complaints in 71 German HSP patients (mean age 55.4 ± 13.9 years; mean disease duration 20.7 ± 14.3 years; 48% SPG4-positive) using validated clinical rating scales (SCOPA-AUT, ICIQ-SF, ICIQ-LUTSqol).
|
30467602 |
2019 |
|
Henoch-Schoenlein Purpura
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Taking into account previously published results and new data generated in this work, genetic studies revealed significant or putative linkage to known HSP loci in 13 families (34.2%) to either SPG11 (7/38, 18.4%), SPG15 (4/38, 10.5%) or to SPG4 and SPG5 in one family each.
|
19438933 |
2009 |
|
Henoch-Schoenlein Purpura
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The overall rate of SPG4 gene mutation in our patients was 36.8% (14/38); in AD-HSP we observed a mutation frequency of 45.8% (11/24), in sporadic cases the frequency was 21.4% (3/14).
|
19875132 |
2010 |