SPAST, spastin, 6683

N. diseases: 138; N. variants: 113
Disease: Mental deterioration ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		0.020 GeneticVariation phenotype BEFREE Cognitive decline and dementia is a feature of SPG4-HSP due to a deletion of exon 17 of the spastin gene. 19652142 2009
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		0.020 Biomarker phenotype BEFREE To investigate whether cognitive decline is part of the phenotype of SPG4-linked hereditary spastic paraparesis (HSP) and to determine whether cognitive changes are present in haplotype carriers before the onset of paraparesis. 10751268 2000