pontocerebellar hypoplasia type 2A

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pontocerebellar hypoplasia type 2A

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
Caused by defects of TSEN54, which encodes a subunit of the tRNA-splicing endonuclease complex.