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- W2607200413 abstract "Phosphomannomutase-2 deficiency-congenital disorder of glycosylation (PMM2-CDG), congenital disorder of glycosylation type-Ia or Jaeken syndrome (MIM #601785) is an autosomal recessive inherited condition of abnormal glycosylation of N-linked oligosaccharides [ [1] Freeze H.H. Eklund E.A. Ng B.G. Patterson M.C. Neurology of inherited glycosylation disorders. Lancet Neurol. 2012; 11: 453-466 Abstract Full Text Full Text PDF PubMed Scopus (144) Google Scholar ]. Disease course is variable, ranging from infantile forms with multisystem involvement and a childhood-adult ataxia-intellectual disability type with neurologic stable form [ 1 Freeze H.H. Eklund E.A. Ng B.G. Patterson M.C. Neurology of inherited glycosylation disorders. Lancet Neurol. 2012; 11: 453-466 Abstract Full Text Full Text PDF PubMed Scopus (144) Google Scholar , 2 Barone R. Carrozzi M. Parini R. et al. A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation. J. Neurol. 2015; 262: 154-164 Crossref PubMed Scopus (35) Google Scholar ]. The phenotypic spectrum includes morphological abnormalities, ataxia, developmental delay, strabismus, retinopathy, seizures, stroke-like episodes, peripheral neuropathy, hypergonadotropic hypogonadism and thrombotic events [ 2 Barone R. Carrozzi M. Parini R. et al. A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation. J. Neurol. 2015; 262: 154-164 Crossref PubMed Scopus (35) Google Scholar , 3 Monin M.L. Mignot C. De Lonlay P. et al. 29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype. Orphanet J. Rare Dis. 2014; 9: 207 Crossref PubMed Scopus (39) Google Scholar ]. Brain imaging displays cerebellar and brainstem atrophy. We describe two sisters with PMM2-CDG that present with cervical dystonia that to our knowledge has not been previously reported." @default.
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- W2607200413 date "2017-07-01" @default.
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- W2607200413 title "Expanding the phenotype of phosphomannomutase-2 gene congenital disorder of glycosylation: Cervical dystonia" @default.
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- W2607200413 doi "https://doi.org/10.1016/j.jns.2017.04.037" @default.
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