rs151344517 in
LOC107985154;AFG3L2;TUBB6 gene and
Bradykinesia
PMID 20725928 2010 Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.
rs63750687 in
PSEN1 gene and
Bradykinesia
PMID 24121961 2014 A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.