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. 2019 Apr 11;5(3):e302. doi: 10.1212/NXG.0000000000000302

Figure. CTSD mutation in a family with neuronal ceroid-lipofuscinosis type 10.

Figure

(A) Pedigree of the family. Affected individuals are shaded in black. (B) T2 gradient recalled echo images showing a large midline cyst (highlighted with arrows) in the inferior part of posterior fossa communicating with the cisterna magna posteroinferiorly and the fourth ventricle anteriorly for both the children, respectively. (C) Chromatogram depicting the capillary sequencing result of CTSD c.A392G in the family, and the mutation position is highlighted with asterisks (red for affected individuals). (D) The domain structure of CTSD protein marked with the identified mutation (p.Y131C). (E) Conservation of CTSD Y131 across other species. (F) TEM image of the skin biopsy showing vacuolating bodies of varying sizes largely localized around the nucleus. The vacuolating bodies are highlighted with red arrows.