Figure 1

Genetic information. (a) The presented case had no family history of ALS, dementia, myopathy or Paget disease. Family members with diagonal black lines had already died. The ages indicated are those at the time of the proband’s death. (b) The proband carried the missense mutation of the VCP gene (c. 472A > G, p.M158V). Neither the father nor the mother carried the VCP mutation identified in the proband. (c) Sequence alignment for amino acids revealed the mutation site to be conserved across different species. (d) Domain structure of VCP protein and mutation site in this case and in reported mutations (Mutations with autopsy are shown in red type) associated with ALS and IBMPFD.