|
Hereditary Autosomal Dominant Spastic Paraplegia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Missense mutation of SPAST protein (I344K) results in loss of ATPase activity and prolonged the half-life, implicated in autosomal dominant hereditary spastic paraplegia.
|
30006150 |
2018 |
|
Hereditary Autosomal Dominant Spastic Paraplegia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
High frequency of SPG4 in Taiwanese families with autosomal dominant hereditary spastic paraplegia.
|
25421405 |
2014 |
|
Hereditary Autosomal Dominant Spastic Paraplegia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These transgenic 'AD-HSP' flies therefore provide a powerful and tractable model to enhance our understanding of the cellular and behavioral consequences of human spastin mutations and test hypotheses directly relevant to the human disease.
|
20154342 |
2010 |
|
Hereditary Autosomal Dominant Spastic Paraplegia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We advocate that all spastin mutation negative AD-HSP kindreds should be screened for pathogenic atlastin mutations regardless of age of onset or phenotypic complexity.
|
19459885 |
2009 |
|
Hereditary Autosomal Dominant Spastic Paraplegia
|
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 |
|
Hereditary Autosomal Dominant Spastic Paraplegia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
SPG4/SPAST, the gene-encoding spastin, is responsible for the most frequent form of autosomal dominant hereditary spastic paraplegia (HSP).
|
17597328 |
2007 |
|
Hereditary Autosomal Dominant Spastic Paraplegia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
On the basis of maximum LOD score of 1.94 at theta (max)=0 with marker D2S367, we obtained suggestive evidence for linkage of ADHSP to SPG4 locus.
|
17690846 |
2007 |
|
Hereditary Autosomal Dominant Spastic Paraplegia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Exon deletions in SPG4 are as frequent as point mutations, and SPG4 is responsible for 40% of AD-HSP.
|
17098887 |
2007 |
|
Hereditary Autosomal Dominant Spastic Paraplegia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
SPG4 mutations are the most frequent cause of autosomal-dominant hereditary spastic paraplegia (HSP).
|
17895902 |
2007 |
|
Hereditary Autosomal Dominant Spastic Paraplegia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia.
|
17035675 |
2006 |
|
Hereditary Autosomal Dominant Spastic Paraplegia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The frequency for SPG4 mutations detected in autosomal dominant hereditary spastic paraplegia was 44.4%.
|
16684598 |
2006 |
|
Hereditary Autosomal Dominant Spastic Paraplegia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Large deletion involving the 5'-UTR in the spastin gene caused mild phenotype of autosomal dominant hereditary spastic paraplegia.
|
15637712 |
2005 |
|
Hereditary Autosomal Dominant Spastic Paraplegia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations.
|
15841487 |
2005 |
|
Hereditary Autosomal Dominant Spastic Paraplegia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Further evidence of dementia in SPG4-linked autosomal dominant hereditary spastic paraplegia.
|
14872021 |
2004 |
|
Hereditary Autosomal Dominant Spastic Paraplegia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This is the first report on direct prenatal diagnosis of chromosome 2p-linked AD-HSP (SPG4).
|
15164410 |
2004 |
|
Hereditary Autosomal Dominant Spastic Paraplegia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The percentage of involved Chinese families with autosomal dominant hereditary spastic paraplegia with an SPG4 mutation is 18% (4/22), lower than the estimated 40% linked to this locus.
|
14732620 |
2004 |
|
Hereditary Autosomal Dominant Spastic Paraplegia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Nine families with ADHSP were linked to the SPG4 locus at 2p21-p24.
|
15210521 |
2004 |
|
Hereditary Autosomal Dominant Spastic Paraplegia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We performed mutation screening by direct sequencing of all 14 exons and flanking sequences of the SPG3A gene in affected individuals from 12 unrelated English families, all with an early onset uncomplicated ADHSP in whom spastin mutations had previously been excluded.
|
14607301 |
2003 |
|
Hereditary Autosomal Dominant Spastic Paraplegia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A total of eight loci for autosomal dominant hereditary spastic paraplegia (ADHSP) has been mapped to chromosome 14q, 2p, 15q, 8q, 10q, 12q, 19q, 2q, respectively, among which the SPG4 gene on chromosome 2p21-22 encoding spastin, an ATPase of the AAA family, accounts for 40-50% of all ADHSP families and is expressed in both adult and fetal tissues.
|
12736085 |
2003 |
|
Hereditary Autosomal Dominant Spastic Paraplegia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics.
|
11809724 |
2002 |
|
Hereditary Autosomal Dominant Spastic Paraplegia
|
0.100 |
Biomarker
|
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 |
|
Hereditary Autosomal Dominant Spastic Paraplegia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Three novel spastin (SPG4) mutations in families with autosomal dominant hereditary spastic paraplegia.
|
12163196 |
2002 |
|
Hereditary Autosomal Dominant Spastic Paraplegia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Inheritance of HSP is commonly autosomal dominant, spastin was identified as the defective gene in chromosome 2p-linked autosomal dominant hereditary spastic paraplegia (AD-HSP).
|
12023066 |
2002 |
|
Hereditary Autosomal Dominant Spastic Paraplegia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant hereditary spastic paraplegia 4 linked to chromosome 2p (SPG4) is the most common form of autosomal dominant hereditary spastic paraplegia.
|
12124993 |
2002 |
|
Hereditary Autosomal Dominant Spastic Paraplegia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Among these loci, the SPG4 locus on chromosome 2p21--p22 has been shown to account for approximately 40% of all autosomal dominant hereditary spastic paraplegia (ADHSP) families.Very recently, Hazan et al. identified the SPG4 gene encoding a new member of the AAA (ATPases associated with diverse cellular activities) protein family, named spastin.
|
11266693 |
2001 |