FIGURE 1.

(A) Pedigree of a German family with a severe dementia syndrome. The index patient is indicated by an arrow. Black symbols indicate affected family members. Healthy male relatives of generation I are grouped together, their number is indicated in the symbols. Repeat lengths of the TBP alleles are indicated. (+/−) indicates heterozygosity for STUB1 variant c.524+1G>A. (B) Electropherograms of STUB1 sequences of the index patient, his affected mother, and a control. The relevant base change of STUB1 is indicated. Distal exon 3 sequence is highlighted green, while the intronic sequence is highlighted red.