Figure 2

(A) Pedigree of the G114V inherited prion disease family. Affected patients are described in the text. Open square, male; open circle, female; filled square with arrow, proband case; square or circle with prolonged diagonal lines, deceased cases; square or circle with overstriking double diagonal lines, patients with neurologic signs according to medical records; square or circle with fine line, asymptomatic carriers with the G114V mutation; square or circle with dot, persons having been confirmed not carrying the G114V mutation. (B) PRNP sequencing showed a point mutation on one allele at position 114. The arrow indicates the position where both G and T were present.