pontocerebellar hypoplasia type 2A

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pontocerebellar hypoplasia type 2A2016-12-03T06:02:06+00:00

pontocerebellar hypoplasia type 2A

NEUROLOGY

Definition An autosomal recessive pontocerebellar malformation (OMIM:277470) characterised by an abnormally small cerebellum and brainstem, progressive microcephaly, poor sucking or swallowing, extrapyramidal dyskinesia and chorea, epilepsy, and a normal spinal cord.

Molecular pathology Defects of TSEN54, which encodes a subunit of the tRNA splicing endonuclease complex, cause pontocerebellar hypoplasia type 2A.

Synonyms Pontocerebellar hypoplasia with progressive cerebral atrophy, Volendam neurodegenerative disease 

References http://www.uniprot.org/uniprot/Q7Z6J9

http://www.omim.org/entry/277470

 

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