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

A novel cathepsin D mutation in 2 siblings with late infantile neuronal ceroid lipofuscinosis

Jineesh Thottath  1 , Shamsudheen Karuthedath Vellarikkal  1 , Rijith Jayarajan  1 , Ankit Verma  1 , Manu Manamel  1 , Archana Singh  1 , V Raman Rajendran  1 , Sridhar Sivasubbu  1 , Vinod Scaria  1
Affiliations

A novel cathepsin D mutation in 2 siblings with late infantile neuronal ceroid lipofuscinosis

Jineesh Thottath et al. Neurol Genet. .
No abstract available

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Figures

Figure
Figure. CTSD mutation in a family with neuronal ceroid-lipofuscinosis type 10
(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.
See this image and copyright information in PMC

References

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