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The syndrome of autosomal recessive pontocerebellar hypoplasia, microcephaly,severely impaired mental and motor development,and extrapyramidal dyskinesia is a distinct system degeneration,previously designated pontocerebellar hypoplasia type 2(PCH-2).To further characterize its clinical and neuroimaging features,we compiled data from 10 nonrelated pedigrees.Six pedigrees were Dutch,two Swedish,and two German.All 16 patients showed an identical profile of virtually absent developmental milestones,early-onset severe chorea,and microcephaly together with pontocerebellar hypoplasia.Family distribution supports autosomal recessive transmission.The present data support the PCH-2 phenotype as a distinct neurogenetic entity. |
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