Condition: Spastic paraplegia 3, autosomal dominant


rs119476046 in ATL1 gene and Spastic paraplegia 3, autosomal dominant PMID 17321752 2007 Mutations in the SPG3A gene encoding the GTPase atlastin interfere with vesicle trafficking in the ER/Golgi interface and Golgi morphogenesis.

PMID 14607301 2003 SPG3A mutation screening in English families with early onset autosomal dominant hereditary spastic paraplegia.

PMID 20816793 2011 The effect of HSP-causing mutations in SPG3A and NIPA1 on the assembly, trafficking, and interaction between atlastin-1 and NIPA1.

PMID 20718791 2011 Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia.

PMID 16537571 2006 SPG3A protein atlastin-1 is enriched in growth cones and promotes axon elongation during neuronal development.

PMID 25637064 2015 De novo mutations in SPG3A: a challenge in differential diagnosis and genetic counselling.

PMID 20947813 2010 Clinical and genetic analysis of a Korean family with hereditary spastic paraplegia type 3.

PMID 20932283 2010 Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.

PMID 25761634 2015 ER network formation and membrane fusion by atlastin1/SPG3A disease variants.

PMID 19652243 2009 Hereditary spastic paraplegia: identification of an SPG3A gene mutation in a Chinese family.

PMID 24482476 2014 Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.

PMID 23079343 2013 Hereditary spastic paraplegia-causing mutations in atlastin-1 interfere with BMPRII trafficking.

PMID 11685207 2001 Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia.

PMID 23233086 2013 SPG3A-linked hereditary spastic paraplegia associated with cerebral glucose hypometabolism.

PMID 15517445 2004 Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A.

PMID 12112092 2002 Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia.

PMID 21368113 2011 Structures of the atlastin GTPase provide insight into homotypic fusion of endoplasmic reticulum membranes.

PMID 23999326 2013 Atlastin-1 regulates dendritic morphogenesis in mouse cerebral cortex.

PMID 19459885 2009 Four novel SPG3A/atlastin mutations identified in autosomal dominant hereditary spastic paraplegia kindreds with intra-familial variability in age of onset and complex phenotype.

PMID 16401858 2006 SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years.

PMID 25454648 2014 Genetic analysis of SPG4 and SPG3A genes in a cohort of Chinese patients with hereditary spastic paraplegia.

PMID 23483706 2013 Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia.

PMID 19768483 2010 Complex phenotype in an Italian family with a novel mutation in SPG3A.

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 21336785 2011 Late-onset hereditary spastic paraplegia with thin corpus callosum caused by a new SPG3A mutation.

PMID 15184642 2004 Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin gene.

PMID 15596607 2004 Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia.

PMID 24417445 2014 'When atlastin meets spastin'.

PMID 24451228 2014 Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses.

PMID 15477516 2004 Novel mutation in the SPG3A gene in an African American family with an early onset of hereditary spastic paraplegia.

PMID 17992088 2007 Hereditary spastic paraplegias: an update.

PMID 12499504 2002 SPG3A: An additional family carrying a new atlastin mutation.

PMID 17427918 2007 Characterization of a novel SPG3A deletion in a French-Canadian family.

PMID 24604904 2014 Application of whole exome sequencing in undiagnosed inherited polyneuropathies.

PMID 12939451 2003 Infancy onset hereditary spastic paraplegia associated with a novel atlastin mutation.

PMID 17502470 2007 Hereditary spastic paraplegia 3A associated with axonal neuropathy.

PMID 14695538 2004 Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus.

PMID 24473461 2014 Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation.

PMID 16533974 2006 De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy.

PMID 15742100 2005 The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy.