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. 2016 Feb 12;11(2):e0149039. doi: 10.1371/journal.pone.0149039

Fig 1. Genetic findings in a family with UBA5 mutations.

Fig 1

(A) The pedigree of family 1 with autosomal recessive spinocerebellar ataxia. (B) Brain magnetic resonance imaging of patient II:2. Panel (left): axial T1-weighted image showing atrophy of the cerebellar vermis. Panel (right): midline sagittal T1-weighted image showing cerebellar atrophy, particularly in the superior vermis, with enlargement of the fourth ventricle. (C) The UBA5 variants [c. 568C > T; c. 760A > G], [p. Arg246X (R246X); p. Lys310Glu (K310E)] segregated in this family. Red arrows indicate the mutation sites. (D) Two mutations (red) affected amino acids that are highly conserved across species.