Figure 1.

Novel mutations in ATP13A2. (A) Graphic representation of three autosomal recessive families with complicated HSP in which ATP13A2 mutations were identified. Sanger sequencing traces confirming the presence of the mutations are presented and their segregation in available family members is demonstrated. The symbol (+) represents wild-type. Blackened symbols indicate affected individuals and symbols with slashes depict deceased individuals. (B) Amino acid conservation of ATP13A2 polypeptide in different species, the black frame delimits the autophosphorylation motif (⁵⁰⁸DKTGT), catalytic conserved residues Asp508 and Thr512 in human ATP13A2 are indicated by black arrows. Below the alignment, asterisk indicates fully conserved, colon indicates strongly similar, and full stop indicates weakly similar amino acids.