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SPAST gene

Known as: SPASTIN, SPG4, SPAST 
National Institutes of Health

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SPAST gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NarrativeSpastic paraplegia 4, autosomal dominant

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2010
2010
Microtubule length distributions in the presence of protein-induced severing.
Microtubules are highly regulated dynamic elements of the cytoskeleton of eukaryotic cells. One of the regulation mechanisms… 
2007
2007
Motor and somatosensory evoked potentials in Autosomal Dominant Hereditary Spastic Paraparesis (ADHSP) linked to chromosome 2p, SPG4
Highly Cited
2006
Highly Cited
2006
A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia.
BACKGROUND To our knowledge, up to now, only 2 mutations in the KIF5A gene, a member of the kinesin superfamily, have been… 
Highly Cited
2005
Highly Cited
2005
Autosomal dominant hereditary spastic paraplegia: DHPLC‐based mutation analysis of SPG4 reveals eleven novel mutations
We set up a new denaturing high‐performance liquid chromatography (DHPLC)‐based protocol to screen patients with autosomal… 
Highly Cited
2004
Highly Cited
2004
Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A
Hereditary spastic paraplegia (HSP) is a group of neurodegenerative disorders mainly characterized by progressive spasticity of… 
2004
2004
Infantile hereditary spastic paraparesis due to codominant mutations in the spastin gene
The authors describe an infant with a severe spastic paraparesis caused by two codominant mutations of the spastin gene. This… 
2002
2002
Missense and splice site mutations in SPG4 suggest loss-of-function in dominant spastic paraplegia
Abstract We studied nine Italian families with a pure form of autosomal dominant spastic paraplegia (ADHSP) to assess the… 
Review
2001
Review
2001
Molecular basis of inherited spastic paraplegias.
Highly Cited
1998
Highly Cited
1998
Autosomal dominant hereditary spastic paraparesis with cognitive loss linked to chromosome 2p.
A family initially considered to have 'pure' autosomal dominant hereditary spastic paraparesis (HSP), was found on… 
Highly Cited
1998
Highly Cited
1998
Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p.
Autosomal dominant familial spastic paraplegia (AD-FSP) is a degenerative disorder of the central motor system characterised by… 
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