In their paper entitled “Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans”, which appeared in March 18th issue of PNAS, Ozcelik et al. shows that a mutation in very low-density lipoprotein receptor VLDLR lead to cerebellar hypoplasia and quadrupedal locomotion in humans.
| Fig. Phenotypic (A) and cranial radiologic (B) presentation of quadrupedal gait in families A and D. (A) Affected brothers VI:20 and VI:18 and cousin VI:25 in family A (Upper) and the proband II:2 in family D (Lower) display palmigrate walking. This is different from quadrupedal knuckle-walking of the great apes (2). The hands make contact with the ground at the ulnar palm, and consequently this area is heavily callused as exemplified by VI:20. Strabismus was observed in all affected individuals. (B) Coronal and midsagittal MRI sections of VI:20, demonstrating vermial hypoplasia, with the inferior vermial portion being completely absent. Inferior cerebellar hypoplasia and a moderate simplification of the cerebral cortical gyri are noted. The brainstem and the pons are particularly small (Left and Center). Similar findings are observed for II:2 (Right).
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Ref
1. Ozcelik T, et al. (2008) Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans. Proc Natl Acad Sci USA 105:4232–4236.
