×
Entrez Id:
6687
Gene Symbol:
SPG7
SPG7
0.430
GeneticVariation
disease
BEFREE
SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V .
22571692
2013
×
Entrez Id:
6687
Gene Symbol:
SPG7
SPG7
0.430
GeneticVariation
disease
BEFREE
The identification of SPG7 as the gene defective in a recessive form of spastic paraplegia has drawn attention to the yeast protein family of ATP-dependent zinc metalloproteases.
11549317
2001
×
Entrez Id:
6687
Gene Symbol:
SPG7
SPG7
0.430
GeneticVariation
disease
BEFREE
Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin , a nuclear-encoded mitochondrial metalloprotease.
9635427
1998
×
Entrez Id:
89953
Gene Symbol:
KLC4
KLC4
0.310
GeneticVariation
disease
BEFREE
The association of a KLC4 mutation with spastic paraplegia identifies a new locus for the disease.
26423925
2015
×
Entrez Id:
1130
Gene Symbol:
LYST
LYST
0.310
GeneticVariation
disease
BEFREE
Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation.
24521565
2014
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
0.200
GeneticVariation
disease
BEFREE
A de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorder.
28778789
2017
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
0.200
GeneticVariation
disease
BEFREE
There is increasing evidence, however, of patients with complicated forms of spastic paraplegia in which SPG4 mutations were identified.
19875132
2010
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
0.200
GeneticVariation
disease
BEFREE
A novel insertion mutation in spastin gene is the cause of spastic paraplegia in a Chinese family.
12736085
2003
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
0.200
GeneticVariation
disease
BEFREE
Four mutations of the spastin gene in Japanese families with spastic paraplegia .
16788734
2006
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
0.200
GeneticVariation
disease
BEFREE
Novel SPG3A and SPG4 mutations in dominant spastic paraplegia families.
18664244
2009
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
0.200
GeneticVariation
disease
BEFREE
Mental deficiency in three families with SPG4 spastic paraplegia .
17957230
2008
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
0.200
GeneticVariation
disease
BEFREE
A novel mutation in the spastin gene in a family with spastic paraplegia .
12023066
2002
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
0.200
GeneticVariation
disease
BEFREE
Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex.
30476002
2018
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
0.200
GeneticVariation
disease
CLINVAR
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
0.200
GeneticVariation
disease
BEFREE
Loss-of-function and haploinsufficiency in SPAST have been demonstrated and the pure form of spastic paraplegia is a main clinical manifestation.
28870597
2017
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
0.200
GeneticVariation
disease
BEFREE
We conclude that this kindred demonstrates a considerable overlap between cerebellar ataxia and spastic paraplegia , emphasizing the marked clinical heterogeneity of HSP associated with spastin mutations.
15667412
2004
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
0.200
GeneticVariation
disease
BEFREE
Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p.
9507385
1998
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
0.200
GeneticVariation
disease
BEFREE
To assess the frequency of SPG4 mutation in patients with spastic paraplegia but without family histories.
16055926
2006
×
Entrez Id:
6683
Gene Symbol:
SPAST
SPAST
0.200
GeneticVariation
disease
BEFREE
A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts.
15159500
2004
×
Entrez Id:
3798
Gene Symbol:
KIF5A
KIF5A
0.190
GeneticVariation
disease
BEFREE
Missense mutations in kinesin family member 5A (KIF5A ) cause spastic paraplegia 10.
27463701
2016
×
Entrez Id:
3798
Gene Symbol:
KIF5A
KIF5A
0.190
GeneticVariation
disease
BEFREE
Heterozygous missense mutations in the N-terminal motor or coiled-coil domains of the kinesin family member 5A (KIF5A ) gene cause monogenic spastic paraplegia (HSP10 ) and Charcot-Marie-Tooth disease type 2 (CMT2).
29342275
2018
×
Entrez Id:
3798
Gene Symbol:
KIF5A
KIF5A
0.190
GeneticVariation
disease
BEFREE
Numerous missense KIF5A mutations in the motor and stalk domains cause spastic paraplegia type 10 (SPG10 , OMIM 604187).
27414745
2017
×
Entrez Id:
3798
Gene Symbol:
KIF5A
KIF5A
0.190
GeneticVariation
disease
BEFREE
In conclusion, these data confirm the presence of SPG10 (chromosome 12), potentially reduce the minimum candidate region for SPG12 (chromosome 19q), and suggest there is at least one additional autosomal dominant SPG locus.
11354831
2001
×
Entrez Id:
3798
Gene Symbol:
KIF5A
KIF5A
0.190
GeneticVariation
disease
BEFREE
WGS and replication studies identified three pathogenic variants in PPMS patients that cause neurological disorders sharing features with MS: KIF5A p.Ala361Val in spastic paraplegia 10; MLC1 p.Pro92Ser in megalencephalic leukodystrophy with subcortical cysts, and REEP1 c.606 + 43G>T in Spastic Paraplegia 31.
29908077
2018
×
Entrez Id:
3798
Gene Symbol:
KIF5A
KIF5A
0.190
GeneticVariation
disease
BEFREE
Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy.
25008398
2014