A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.

doi:10.1093/brain/awq261

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Article

A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.

Brain : a journal of neurology - 1 Nov 2010

Morava Eva, Wevers Ron A, Cantagrel Vincent, Hoefsloot Lies H, Al-Gazali Lihadh, Schoots Jeroen, van Rooij Arno, Huijben Karin, van Ravenswaaij-Arts Connie M A, Jongmans Marjolein C J, Sykut-Cegielska Jolanta, Hoffmann Georg F, Bluemel Peter, Adamowicz Maciej, van Reeuwijk Jeroen, Ng Bobby G, Bergman Jorieke E H, van Bokhoven Hans, Körner Christian, Babovic-Vuksanovic Dusica, Willemsen Michel A, Gleeson Joseph G, Lehle Ludwig, de Brouwer Arjan P M, Lefeber Dirk J

Abstract excerpt

Cerebellar hypoplasia and slowly progressive ophthalmological symptoms are common features in patients with congenital disorders of glycosylation type I. In a group of patients with congenital disorders of glycosylation type I with unknown aetiology, we have previously described a distinct phenot...

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PMID: 20852264
DOI: 10.1093/brain/awq261
PMCID: PMC6276930

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20852264-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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