[A Pair of Siblings with a rare R5H-Mutation in Exon 1 of the XXXX -Gene].

@entity1 @entity2003 @entity73 @entity2730 @entity747 @entity35869 @entity716 @entity4943 @entity3668 @entity2798
We report on a female @entity1 presenting with @entity35869 ( @entity35869 ) and her brother presenting with @entity716 . Both siblings had an R5H-mutation in exon 1 of the @entity3668 -gene. The @entity35869 @entity1 presented for the first time at the age of 72 years with a 4-year-history of @entity73 . After a progressive course the @entity1 died at the age of 76 years. The R5H- @entity3668 -gene mutation detected in the siblings has been described only once in 2002 by Hayashi et al. [1]. In this previous case from Japan, a 75-year-old @entity1 initially displayed @entity2730 and disorientation. He became bedridden, with progressive @entity2798 and @entity2003 of the upper extremities. Noteworthy are the manifold signs and symptoms in R5H-mutations and the late age of onset. For future trials, the detection of biomarkers for @entity747 in presymptomatic cohorts like the genetic @entity4943 initiative (GENFI) is of help for stratifying subjects at risk.
