×
Entrez Id:
51062
Gene Symbol:
ATL1
ATL1
0.020
Biomarker
disease
BEFREE
The phenotype was pure HSP, but disease duration was longer than in non-SPG3A /SPG4 patients, leading ultimately to greater handicap.
16401858
2006
×
Entrez Id:
51062
Gene Symbol:
ATL1
ATL1
0.020
GeneticVariation
disease
BEFREE
Mutations in the SPAST (SPG4) and ATL1 (SPG3A ) genes would account for about 50% of the ADHSP cases.
20932283
2010
×
Entrez Id:
84661
Gene Symbol:
DPY30
DPY30
0.010
GeneticVariation
disease
BEFREE
The partial heterozygous deletion of DPY30 could modify the phenotypic expression of SPG4 patients with this pedigree.
20857310
2011
HSP90B2P
0.010
Biomarker
disease
BEFREE
These data suggest that varying spastin RNA levels are found in out-of-frame and missense spastin mutations and imply different mechanisms involved in the molecular pathology of SPG4 linked HSP .
12939659
2003
×
Entrez Id:
55764
Gene Symbol:
IFT122
IFT122
0.010
GeneticVariation
disease
BEFREE
Spastic paraplegia type 4 (SPG4 ) is the most common autosomal dominant hereditary SPG caused by mutations in the SPAST gene.
20857310
2011
×
Entrez Id:
123606
Gene Symbol:
NIPA1
NIPA1
0.010
GeneticVariation
disease
BEFREE
Three distinct loci have been mapped to chromosomes 14q (SPG3), 2p (SPG4 ) and 15q (SPG6 ).
10987648
1999
×
Entrez Id:
65055
Gene Symbol:
REEP1
REEP1
0.010
GeneticVariation
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:
55676
Gene Symbol:
SLC30A6
SLC30A6
0.010
GeneticVariation
disease
BEFREE
Furthermore, we propose that genomic deletions encompassing the final exon of SPAST may affect expression of SLC30A6 , the most proximal downstream locus and a gene that has been implicated in the pathogenesis of Alzheimer disease, potentially explaining recent reports of dementia in selected SPG4 patients.
21659953
2011
×
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