Figure 1. Original and updated genetic pedigree.

(A) Genetic pedigree as previously published. Individuals affected by cervical dopa-responsive dystonia are indicated by shaded symbols and those for whom DNA was available by “DNA.” (B) Updated genetic pedigree in light of the initial exome sequencing results. The individuals marked with a cross (III:6 and III:8) have clinically typical ataxia telangiectasia. Mutational status for ATM is marked below the relevant individuals as follows: wt = wild-type allele; fs = frameshift deletion (c.7886_7890del); and m = missense mutation (c.6154G>A). DNA availability is marked as previously. The marriage between individuals II:5 and II:6 is possibly consanguineous.