Article
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.
Brain : a journal of neurology - 1 Jan 2011
Namavar Yasmin, Barth Peter G, Kasher Paul R, van Ruissen Fred, Brockmann Knut, Bernert Günther, Writzl Karin, Ventura Karen, Cheng Edith Y, Ferriero Donna M, Basel-Vanagaite Lina, Eggens Veerle R C, Krägeloh-Mann Ingeborg, De Meirleir Linda, King Mary, Graham John M, von Moers Arpad, Knoers Nine, Sztriha Laszlo, Korinthenberg Rudolf, Dobyns William B, Baas Frank, Poll-The Bwee Tien
Abstract excerpt
Pontocerebellar hypoplasia is a group of autosomal recessive neurodegenerative disorders with prenatal onset. The common characteristics are cerebellar hypoplasia with variable atrophy of the cerebellum and the ventral pons. Supratentorial involvement is reflected by variable neocortical atrophy, ventriculomegaly and microcephaly. Mutations in the transfer RNA splicing endonuclease subunit genes (TSEN54, TSEN2,...
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