Condition: Spastic paraplegia 4, autosomal dominant


rs1060502227 in SPAST gene and Spastic paraplegia 4, autosomal dominant PMID 15841487 2005 Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations.

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

PMID 11843700 2002 Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia.

PMID 11809724 2002 Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics.

PMID 22960362 2012 Novel and recurrent spastin mutations in a large series of SPG4 Italian families.

PMID 10699187 2000 Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.

PMID 20214791 2010 Unique spectrum of SPAST variants in Estonian HSP patients: presence of benign missense changes but lack of exonic rearrangements.

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

PMID 16240363 2005 Spastin mutations in sporadic adult-onset upper motor neuron syndromes.

PMID 17100993 2006 Spastin gene mutations in Bulgarian patients with hereditary spastic paraplegia.

PMID 11985387 2002 Missense and splice site mutations in SPG4 suggest loss-of-function in dominant spastic paraplegia.

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 12202986 2002 A novel missense mutation (I344K) in the SPG4gene in a Korean family with autosomal-dominant hereditary spastic paraplegia.

PMID 23279441 2013 First mutation in the nuclear localization signal sequence of spastin protein identified in a patient with hereditary spastic paraplegia.

PMID 12124993 2002 Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia.

PMID 12161613 2002 Spastin gene mutation in Japanese with hereditary spastic paraplegia.

PMID 15159500 2004 A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts.

PMID 12552568 2003 Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene.

PMID 16339213 2006 Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners.

PMID 11087788 2000 Novel mutations in spastin gene and absence of correlation with age at onset of symptoms.

PMID 15891913 2005 Subcellular localization of spastin: implications for the pathogenesis of hereditary spastic paraplegia.

PMID 17594340 2007 Seven novel mutations and four exon deletions in a collection of Norwegian patients with SPG4 hereditary spastic paraplegia.

PMID 14732620 2004 Three novel mutations of the spastin gene in Chinese patients with hereditary spastic paraplegia.

PMID 16682546 2006 Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia.

PMID 24824479 2014 Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia.

PMID 11015453 2000 Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis.

PMID 27334366 2016 SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia.

PMID 20562464 2010 Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations.

PMID 17957230 2008 Mental deficiency in three families with SPG4 spastic paraplegia.

PMID 26208798 2015 Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia.

PMID 15716377 2005 Linking axonal degeneration to microtubule remodeling by Spastin-mediated microtubule severing.

PMID 18701882 2009 Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia.

PMID 16055926 2006 Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases.

PMID 19438933 2009 Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity.

PMID 25658484 2015 Multimodal MRI-based study in patients with SPG4 mutations.

PMID 16009769 2005 Mutation analysis of SPG4 and SPG3A genes and its implication in molecular diagnosis of Korean patients with hereditary spastic paraplegia.

PMID 16832076 2006 Clinical features of hereditary spastic paraplegia due to spastin mutation.

PMID 15248095 2004 Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations.

PMID 17597328 2007 A de novo SPAST mutation leading to somatic mosaicism is associated with a later age at onset in HSP.

PMID 27084228 2016 Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands.

PMID 24381312 2014 Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients' neurons.

PMID 25341883 2014 Mutation and clinical characteristics of autosomal-dominant hereditary spastic paraplegias in China.

PMID 23833562 2013 Hereditary Spastic Paraplegia with a Novel SPAST Mutation Misdiagnosed with Subacute Combined Degeneration.

PMID 28572275 2017 Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia.

PMID 21546041 2011 Detection of novel mutations and review of published data suggests that hereditary spastic paraplegia caused by spastin (SPAST) mutations is found more often in males.

PMID 20665701 2011 Distinct intracellular vesicle transport mechanisms are selectively modified by spastin and spastin mutations.

PMID 19875132 2010 Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia.

PMID 25045380 2014 Mutation analysis of SPAST, ATL1, and REEP1 in Korean Patients with Hereditary Spastic Paraplegia.

PMID 18664244 2009 Novel SPG3A and SPG4 mutations in dominant spastic paraplegia families.

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

PMID 23252998 2012 SPAST mutations in Australian patients with hereditary spastic paraplegia.

PMID 27957547 2017 Clinical and genetic study of hereditary spastic paraplegia in Canada.

PMID 11039577 2000 Hereditary spastic paraplegia caused by mutations in the SPG4 gene.

PMID 2056246 1991 L-arginine-dependent production of a reactive nitrogen intermediate by macrophages of a uricotelic species.

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 18410514 2008 Spastin oligomerizes into a hexamer and the mutant spastin (E442Q) redistribute the wild-type spastin into filamentous microtubule.

PMID 27260292 2016 A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings.

PMID 9695811 1998 The AAA team: related ATPases with diverse functions.

PMID 17598600 2007 SPG4 founder effect in French Canadians with hereditary spastic paraplegia.