Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 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 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 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. 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
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 Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners. 16339213 2006
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 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 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 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 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 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 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 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 By combining direct testing of SPAST and SPG3A, at least 50% of ADHSP families can now receive appropriate genetic diagnosis. 12499504 2002