Spastic Paraplegia, Hereditary
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A wide range of mutations in the kinesin motor Kif5A have been linked to a neuronal disorder called hereditary spastic paraplegia (HSP).
|
30366951 |
2018 |
Spastic Paraplegia, Hereditary
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Kinesins in neurological inherited diseases: a novel motor-domain mutation in KIF5A gene in a patient from Southern Italy affected by hereditary spastic paraplegia.
|
30411208 |
2018 |
Spastic Paraplegia, Hereditary
|
0.500 |
Biomarker
|
disease |
BEFREE |
Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2).
|
29566793 |
2018 |
Spastic Paraplegia, Hereditary
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
23 separate mutations in the motor domain of Kif5A have been identified in patients with the complicated form of hereditary spastic paraplegia (HSP).
|
28678816 |
2017 |
Spastic Paraplegia, Hereditary
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.
|
28832565 |
2017 |
Spastic Paraplegia, Hereditary
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.
|
28832565 |
2017 |
Spastic Paraplegia, Hereditary
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Identification of two novel KIF5A mutations in hereditary spastic paraplegia associated with mild peripheral neuropathy.
|
26403765 |
2015 |
Spastic Paraplegia, Hereditary
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
To establish the phenotypic spectrum of KIF5A mutations and to investigate whether KIF5A mutations cause axonal neuropathy associated with hereditary spastic paraplegia (HSP) or typical Charcot-Marie-Tooth disease type 2 (CMT2).
|
25008398 |
2014 |
Spastic Paraplegia, Hereditary
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A practical approach to diagnosing adult onset leukodystrophies.
|
24357685 |
2014 |
Spastic Paraplegia, Hereditary
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
SPG10 is an autosomal dominant form of hereditary spastic paraplegia caused by mutations in KIF5A, which encodes one of the isoforms of kinesin-1 (KIF5A, KIF5B, and KIF5C).
|
22785106 |
2013 |
Spastic Paraplegia, Hereditary
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
SPG10 is a rare form of autosomic dominant hereditary spastic paraplegia (HSP) caused by mutations in the KIF5A gene, which may be involved in axonal transport.
|
22788249 |
2013 |
Spastic Paraplegia, Hereditary
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Spastic paraplegia type 10 (SPG10) is an autosomal dominant form of hereditary spastic paraplegia (HSP) due to mutations in KIF5A, a gene encoding the neuronal kinesin heavy chain implicated in anterograde axonal transport.
|
21623771 |
2012 |
Spastic Paraplegia, Hereditary
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the equivalent human gene, Kif5A, result in similar problems that cause hereditary spastic paraplegia (HSP) and Charcot-Marie-Tooth type 2 (CMT2) distal neuropathies.
|
22714410 |
2012 |
Spastic Paraplegia, Hereditary
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy.
|
21107874 |
2011 |
Spastic Paraplegia, Hereditary
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
SPG10 is an autosomal dominant form of hereditary spastic paraplegia (HSP), which is caused by mutations in the neural kinesin heavy chain KIF5A gene, the neuronal motor of fast anterograde axonal transport.
|
18245137 |
2008 |
Spastic Paraplegia, Hereditary
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia.
|
16489470 |
2006 |
Spastic Paraplegia, Hereditary
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia.
|
16489470 |
2006 |
Spastic Paraplegia, Hereditary
|
0.500 |
Biomarker
|
disease |
BEFREE |
We propose that the KIF5A gene should be routinely analyzed in patients with hereditary spastic paraplegia negative for spastin and atlastin mutations.
|
16476820 |
2006 |
Spastic Paraplegia, Hereditary
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia.
|
15452312 |
2004 |
Spastic Paraplegia, Hereditary
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10).
|
12355402 |
2002 |