A case of @entity3605 with a double mutation ( @entity31966 / @entity63782 ) in the XXXX gene.

@entity1 @entity63782 @entity66 @entity303 @entity73 @entity3605 @entity3669 @entity31966 @entity4653
@entity3605 ( @entity3605 ) presents with rapidly progressive @entity303 associated with several symptoms including pyramidal, extrapyramidal, and cerebellar signs. In Japan, @entity1 with @entity3669 gene mutations comprise 18.3% of @entity3605 cases. In the present study, we report a 74-year-old @entity1 with a double mutation in the @entity3669 gene. He showed @entity4653 , gait disturbance, and @entity73 . High signal intensity was observed in the bilateral cortex on brain MRI in diffusion-weighted images. There were high total Tau protein and 14-3-3 protein levels in the cerebrospinal fluid. We diagnosed him as having @entity3605 clinically, and analyzed the @entity3669 gene, which revealed a @entity31966 mutation and a @entity63782 one, i.e., a compound heterozygous status. In our @entity1 , the disease has very slowly progressive (total disease course, 37 months). The @entity31966 and @entity63782 mutations are specific mutations to Japanese @entity3605 @entity1 . For @entity1 with a double @entity3669 gene mutation, only @entity31966 and @entity63782 have been known. @entity1 with a double mutation ( @entity31966 / @entity63782 ) in the @entity3669 gene might show an @entity66 with a slow progression.
