pontocerebellar hypoplasia type 4

pontocerebellar hypoplasia type 4

An autosomal recessive pontocerebellar malformation (OMIM:225753) characterised by a severe course and early death.

Molecular pathology
Caused by defects of TSEN54, which encodes a subunit of the tRNA-splicing endonuclease complex.
References in classic literature ?
When the officers arrived they found three men groaning on the floor, a frightened woman lying upon a filthy bed, her face buried in her arms, and what appeared to be a well-dressed young gentleman standing in the center of the room awaiting the reenforcements which he had thought the footsteps of the officers hurrying up the stairway had announced--but they were mistaken in the last; it was a wild beast that looked upon them through those narrowed lids and steel-gray eyes.