Figure 1.

SPG11 mutations in patients of eight families. (a) Pedigrees of the eight families. SPG11 genotypes of individuals tested are presented. Individual SPG11‐210‐II3 was genotyped prior to her death. Present age of individuals is provided when known. Filled circles and squares, affected; unfilled circles and squares, unaffected at time of examination. Among the affected individuals, only those designated with * were clinically examined, and the others were reported to be affected by family members. M, mutated SPG11 allele; N, wild‐type SPG11 allele; MN‐MN, compound heterozygous SPG11 phenotypes. (b) DNA sequence chromatograms showing various SPG11 mutations identified in the eight families