×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
1.000
CausalMutation
disease
CLINVAR
Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations.
20562464
2010
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
1.000
GeneticVariation
disease
UNIPROT
Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia.
12124993
2002
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
1.000
CausalMutation
disease
CLINVAR
Novel and recurrent spastin mutations in a large series of SPG4 Italian families.
22960362
2012
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
1.000
GeneticVariation
disease
UNIPROT
Hereditary spastic paraplegia caused by mutations in the SPG4 gene.
11039577
2000
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
1.000
GeneticVariation
disease
UNIPROT
Spastin couples microtubule severing to membrane traffic in completion of cytokinesis and secretion.
19000169
2009
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
1.000
GeneticVariation
disease
CLINVAR
The presence of lower motor neuron dysfunction in a subgroup of SPG4 patients suggests that the cellular dysfunction in SPG4 extends beyond the axonal projections of upper motor neurons and ascending sensory pathways.
16832076
2006
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
1.000
GeneticVariation
disease
UNIPROT
Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia.
10610178
1999
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
1.000
CausalMutation
disease
CLINVAR
Seven novel mutations and four exon deletions in a collection of Norwegian patients with SPG4 hereditary spastic paraplegia.
17594340
2007
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
1.000
CausalMutation
disease
CLINVAR
Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.
10699187
2000
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
1.000
Biomarker
disease
BEFREE
Three genetic types, SPG3 (ATL1), SPG4 (SPAST ) and SPG31 (REEP1), appear predominantly and may account for up to 50% of autosomal dominant hereditary spastic paraplegias (AD-HSPs).
26671083
2015
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
1.000
GeneticVariation
disease
CLINVAR
Spastin mutations in sporadic adult-onset upper motor neuron syndromes.
16240363
2005
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
1.000
CausalMutation
disease
CLINVAR
Mental deficiency in three families with SPG4 spastic paraplegia.
17957230
2008
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
1.000
CausalMutation
disease
CLINVAR
Unique spectrum of SPAST variants in Estonian HSP patients: presence of benign missense changes but lack of exonic rearrangements.
20214791
2010
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
1.000
GeneticVariation
disease
CLINVAR
SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia.
27334366
2016
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
1.000
CausalMutation
disease
CLINVAR
The AAA team: related ATPases with diverse functions.
9695811
1998
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
1.000
GeneticVariation
disease
UNIPROT
Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations.
20562464
2010
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
1.000
CausalMutation
disease
CLINVAR
Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia.
16682546
2006
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
1.000
CausalMutation
disease
CLINVAR
Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene.
12552568
2003
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
1.000
CausalMutation
disease
CLINVAR
Detection of novel mutations and review of published data suggests that hereditary spastic paraplegia caused by spastin (SPAST) mutations is found more often in males.
21546041
2011
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
1.000
CausalMutation
disease
CLINVAR
Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients' neurons.
24381312
2014
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
1.000
CausalMutation
disease
CLINVAR
Spastin mutations in sporadic adult-onset upper motor neuron syndromes.
16240363
2005
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
1.000
GeneticVariation
disease
CLINVAR
Novel and recurrent spastin mutations in a large series of SPG4 Italian families.
22960362
2012
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
1.000
GeneticVariation
disease
CLINVAR
Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia.
11843700
2002
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
1.000
CausalMutation
disease
CLINVAR
Hereditary Spastic Paraplegia with a Novel SPAST Mutation Misdiagnosed with Subacute Combined Degeneration.
23833562
2013
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
1.000
GeneticVariation
disease
CLINVAR
L-arginine-dependent production of a reactive nitrogen intermediate by macrophages of a uricotelic species.
2056246
1991