present in Gene: SPAST
present in Chromosome: 2
Position on Chromosome: 32127017
Alleles of this Variant: A/G
rs797044850 in
SPAST gene and
Movement Disorders
PMID 17101632 2006 A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition.
PMID 22554690 2012 Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance.
PMID 20562464 2010 Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations.
PMID 23122959 2012 Normal spastin gene dosage is specifically required for axon regeneration.
PMID 25065914 2014 The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.
PMID 18190593 2008 Compound heterozygosity in the SPG4 gene causes hereditary spastic paraplegia.
PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.
PMID 25315759 2014 A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother.
PMID 19453301 2009 Direct evidence for axonal transport defects in a novel mouse model of mutant spastin-induced hereditary spastic paraplegia (HSP) and human HSP patients.
PMID 17100993 2006 Spastin gene mutations in Bulgarian patients with hereditary spastic paraplegia.
PMID 24478365 2014 Pathogenic mutation of spastin has gain-of-function effects on microtubule dynamics.
PMID 26094131 2015 Hereditary spastic paraplegia SPG4: what is known and not known about the disease.
PMID 23438842 2014 Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia.
PMID 26374131 2016 Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing.
PMID 26208798 2015 Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia.
PMID 26671083 2015 Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients.
PMID 14681884 2003 Hereditary spastic paraparesis: disrupted intracellular transport associated with spastin mutation.
PMID 11309678 2001 Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia.
PMID 10610178 1999 Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia.
PMID 10699187 2000 Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.
PMID 15326248 2004 Infantile hereditary spastic paraparesis due to codominant mutations in the spastin gene.
rs797044850 in
SPAST gene and
Muscle hypotonia
PMID 22554690 2012 Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance.
PMID 17101632 2006 A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition.
PMID 18190593 2008 Compound heterozygosity in the SPG4 gene causes hereditary spastic paraplegia.
PMID 14681884 2003 Hereditary spastic paraparesis: disrupted intracellular transport associated with spastin mutation.
PMID 23122959 2012 Normal spastin gene dosage is specifically required for axon regeneration.
PMID 10610178 1999 Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia.
PMID 15326248 2004 Infantile hereditary spastic paraparesis due to codominant mutations in the spastin gene.
PMID 11309678 2001 Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia.
PMID 10699187 2000 Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.
PMID 19453301 2009 Direct evidence for axonal transport defects in a novel mouse model of mutant spastin-induced hereditary spastic paraplegia (HSP) and human HSP patients.
PMID 20562464 2010 Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations.
PMID 17100993 2006 Spastin gene mutations in Bulgarian patients with hereditary spastic paraplegia.
PMID 25065914 2014 The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.
PMID 24478365 2014 Pathogenic mutation of spastin has gain-of-function effects on microtubule dynamics.
PMID 25315759 2014 A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother.
PMID 26208798 2015 Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia.
PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.
PMID 26374131 2016 Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing.
PMID 26671083 2015 Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients.
PMID 23438842 2014 Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia.
PMID 26094131 2015 Hereditary spastic paraplegia SPG4: what is known and not known about the disease.