SPAST, spastin, 6683

N. diseases: 138; N. variants: 113
Disease: Spastic Paraplegia, Hereditary ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.400 GeneticVariation disease BEFREE A novel splicing mutation (c.870+3A>G) in SPG4 in a Korean family with hereditary spastic paraplegia. 19939411 2010
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.400 Biomarker disease BEFREE Evaluation of loss of function as an explanation for SPG4-based hereditary spastic paraplegia. 20430936 2010
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.400 GeneticVariation disease BEFREE The most frequent causes of autosomal dominant (AD) hereditary spastic paraplegias (HSP) (ADHSP) are mutations in the SPAST gene (SPG4 locus). 20461110 2010
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.400 GeneticVariation disease BEFREE Dementia in SPG4 hereditary spastic paraplegia: clinical, genetic, and neuropathologic evidence. 19652142 2009
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.400 GeneticVariation disease BEFREE Direct evidence for axonal transport defects in a novel mouse model of mutant spastin-induced hereditary spastic paraplegia (HSP) and human HSP patients. 19453301 2009
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.400 GeneticVariation disease BEFREE The prevalence of hereditary spastic paraplegia and the occurrence of SPG4 mutations in Estonia. 19039240 2009
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.400 Biomarker disease MGD Direct evidence for axonal transport defects in a novel mouse model of mutant spastin-induced hereditary spastic paraplegia (HSP) and human HSP patients. 19453301 2009
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.400 GeneticVariation disease LHGDN Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia. 18701882 2009
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.400 GeneticVariation disease BEFREE About 40% of cases of hereditary spastic paraplegia are due to mutations in SPG4 encoding for spastin, while 10% are due to mutations in SPG3A encoding for atlastin. 19494379 2009
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.400 GeneticVariation disease BEFREE Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia. 19423133 2009
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.400 GeneticVariation disease BEFREE Mutations of human spastin, an AAA (ATPases associated with diverse cellular activity) family protein, cause an autosomal dominant form of hereditary spastic paraplegia, which is characterized by weakness, spasticity and loss of the vibratory sense in the lower limbs. 19619244 2009
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.400 GeneticVariation disease BEFREE Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia. 18701882 2009
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.400 GeneticVariation disease BEFREE Compound heterozygosity in the SPG4 gene causes hereditary spastic paraplegia. 18190593 2008
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.400 GeneticVariation disease BEFREE Our work also provides insights into the structural defects in spastin that arise from mutations identified in hereditary spastic paraplegia patients. 18202664 2008
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.400 GeneticVariation disease LHGDN Our work also provides insights into the structural defects in spastin that arise from mutations identified in hereditary spastic paraplegia patients. 18202664 2008
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.400 GeneticVariation disease BEFREE Mutations in the SPG4 gene (spastin) and in the SPG3A gene (atlastin) account for the majority of 'pure' autosomal dominant form of hereditary spastic paraplegia (HSP). 18644145 2008
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.400 AlteredExpression disease LHGDN Compound heterozygosity in the SPG4 gene causes hereditary spastic paraplegia. 18190593 2008
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.400 GeneticVariation disease BEFREE Silver syndrome variant of hereditary spastic paraplegia: A locus to 4p and allelism with SPG4. 18401025 2008
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.400 Biomarker disease BEFREE For SPG4, the gene most frequently involved in hereditary spastic paraplegias, a novel mutational mechanism was described, which allows detection of an increased number of cases. 17992088 2007
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.400 GeneticVariation disease BEFREE Isoform-specific increase of spastin stability by N-terminal missense variants including intragenic modifiers of SPG4 hereditary spastic paraplegia. 17916079 2007
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.400 Biomarker disease LHGDN The role of hereditary spastic paraplegia related genes in multiple sclerosis. A study of disease susceptibility and clinical outcome. 17420921 2007
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.400 Biomarker disease BEFREE Double-blind crossover trial of gabapentin in SPG4-linked hereditary spastic paraplegia. 17539946 2007
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.400 GeneticVariation disease LHGDN Seven novel mutations and four exon deletions in a collection of Norwegian patients with SPG4 hereditary spastic paraplegia. 17594340 2007
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.400 GeneticVariation disease BEFREE A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree. 17895902 2007
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		0.400 GeneticVariation disease BEFREE Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia. 17098887 2007