Condition: Ankle clonus
rs1557055405 in
ABCD1 gene and
Ankle clonus
PMID 9452087 1998 First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy.
rs63750687 in
PSEN1 gene and
Ankle clonus
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.