Hereditary Autosomal Dominant Spastic Paraplegia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners.
|
16339213 |
2006 |
Hereditary Autosomal Dominant Spastic Paraplegia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, mutations in the human atlastin-1 gene, SPG3A, cause a form of autosomal dominant hereditary spastic paraplegia (HSP).
|
21550242 |
2011 |
Hereditary Autosomal Dominant Spastic Paraplegia
|
0.100 |
Biomarker
|
disease |
BEFREE |
In this study, we compared spinal cord magnetic resonance imaging (MRI) in 13 HSP patients with four different types of autosomal dominant hereditary spastic paraplegia (SPG3A, SPG4, SPG6, and SPG8) with age-matched control subjects.
|
16143870 |
2005 |
Hereditary Autosomal Dominant Spastic Paraplegia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in atlastin-1 (ATL-1), a gene known to cause pure, early-onset autosomal dominant hereditary spastic paraplegia SPG3A, have been recently reported to cause hereditary sensory neuropathy I (HSN I).
|
22340599 |
2012 |
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 |
We report a novel mutation in the SPG3A gene in an African American family with an infantile onset of autosomal dominant hereditary spastic paraplegia.
|
15477516 |
2004 |
Hereditary Autosomal Dominant Spastic Paraplegia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Partial SPAST deletions, but not SPAST amplifications and SPG3A copy number aberrations, represent an underestimated cause of autosomal dominant hereditary spastic paraplegia.
|
17035675 |
2006 |
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 |
Novel mutation in the ATL1 with autosomal dominant hereditary spastic paraplegia presented as dysautonomia.
|
24969372 |
2014 |
Hereditary Autosomal Dominant Spastic Paraplegia
|
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 |
Hereditary Autosomal Dominant Spastic Paraplegia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
By combining direct testing of SPAST and SPG3A, at least 50% of ADHSP families can now receive appropriate genetic diagnosis.
|
12499504 |
2002 |
Hereditary Autosomal Dominant Spastic Paraplegia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant hereditary spastic paraplegia linked to the SPG3A locus on chromosome 14q11-21 accounts for approximately 10% of autosomal dominant hereditary spastic paraplegia (ADHSP).
|
14695538 |
2004 |
Hereditary Autosomal Dominant Spastic Paraplegia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the SPG3A gene, which encodes the large guanosine triphosphatase atlastin, are the second most common cause of autosomal dominant hereditary spastic paraplegia.
|
17427918 |
2007 |
Hereditary Autosomal Dominant Spastic Paraplegia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the SPG3A gene represent a significant cause of autosomal dominant hereditary spastic paraplegia with early onset and pure phenotype.
|
19768483 |
2010 |
Hereditary Autosomal Dominant Spastic Paraplegia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the SPG3A gene (atlastin protein) cause approximately 10% of autosomal-dominant hereditary spastic paraplegia.
|
16533974 |
2006 |
Hereditary Autosomal Dominant Spastic Paraplegia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the SPG3A gene (atlastin protein) cause approximately 10% of autosomal-dominant hereditary spastic paraplegia.
|
19735987 |
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 |