ATXN3, ataxin 3, 4287

N. diseases: 207; N. variants: 12
Disease: Paraparesis, Spastic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		0.010 Biomarker phenotype BEFREE A review of the literature revealed that MJD with the initial presentation of spastic paraparesis is more frequently observed in cases of eastern Asian origin who carry a greater CAG expansions in the ATXN3 gene. 30007589 2018