ATXN3, ataxin 3, 4287

N. diseases: 207; N. variants: 12
Disease: Cerebellar degeneration ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0262404
Disease: Cerebellar degeneration
Cerebellar degeneration 		0.040 Biomarker disease BEFREE <b>Conclusions:</b> In this study, we demonstrated cerebellar degeneration in SCA3/MJD based on tissue volume, neurochemistry, and tissue microstructure. 31616370 2019
CUI: C0262404
Disease: Cerebellar degeneration
Cerebellar degeneration 		0.040 Biomarker disease BEFREE Comparing ET with primary disorders of cerebellar degeneration (i.e., SCAs), we observed a spectrum of changes reflecting differences of degree, being generally mild in ET and SCA3 and more severe in SCA1/2/6. 31317229 2019
CUI: C0262404
Disease: Cerebellar degeneration
Cerebellar degeneration 		0.040 GeneticVariation disease BEFREE Oral administration of the calpain inhibitor BDA-410 decreased both fragments formation and full-length ataxin-3 levels, reduced aggregation of mutant ataxin-3 and prevented cell injury and striatal and cerebellar degeneration. 24817574 2014
CUI: C0262404
Disease: Cerebellar degeneration
Cerebellar degeneration 		0.040 Biomarker disease BEFREE Pathoanatomy of cerebellar degeneration in spinocerebellar ataxia type 2 (SCA2) and type 3 (SCA3). 22198871 2012