Figure 3. Segregation of variants in family 3.

Three of the siblings from a first-degree consanguineous marriage were affected with autosomal recessive juvenile amyotrophic lateral sclerosis. Only the proband (generation IV) was available to us; she carried the above-mentioned SPG11 mutation in homozygous form. Her mother and one of her sisters were carriers. A younger brother was free of mutation. N = free of mutation; nt = not tested.