Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C0497327
Disease: Dementia
Dementia 		0.160 GeneticVariation BEFREE Furthermore, we propose that genomic deletions encompassing the final exon of SPAST may affect expression of SLC30A6, the most proximal downstream locus and a gene that has been implicated in the pathogenesis of Alzheimer disease, potentially explaining recent reports of dementia in selected SPG4 patients. 21659953

2011
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C0497327
Disease: Dementia
Dementia 		0.160 GeneticVariation BEFREE Cognitive decline and dementia is a feature of SPG4-HSP due to a deletion of exon 17 of the spastin gene. 19652142

2009
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C0497327
Disease: Dementia
Dementia 		0.160 GeneticVariation BEFREE This study indicates an active progression of cognitive deterioration and dementia in older patients with SPG4-ADHSP. 14872021

2004
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C0497327
Disease: Dementia
Dementia 		0.160 GeneticVariation BEFREE In addition, the seven different loci so far reported to be associated with autosomal dominant pure forms of spastic paraplegia have been tested and excluded by linkage analysis and haplotype reconstruction, including SPG4 on chromosome 2p22-p21, where a familial form of spastic paraplegia associated with dementia and epilepsy has been mapped. 12567407

2003
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C0497327
Disease: Dementia
Dementia 		0.160 GeneticVariation BEFREE Subtle cognitive impairment but no dementia in patients with spastin mutations. 12925368

2003
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C0497327
Disease: Dementia
Dementia 		0.160 GeneticVariation BEFREE Here we report linkage to the SPG4 locus in a three generation family with AD-FSP complicated by dementia and epilepsy. 9507385

1998
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
CUI: C0497327
Disease: Dementia
Dementia 		0.160 Biomarker HPO