Literature DB >> 8923302

Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I.

L Pavone1, A Fiumara, R Barone, R Rizzo, P Buttitta, W B Dobyns, J Jaeken.   

Abstract

The carbohydrate-deficient glycoprotein (CDG) syndromes are a group of genetic multisystem disorders with invariable involvement of the nervous system including severe olivopontocerebellar atrophy. We report two sets of sibs in whom the diagnosis of CDG syndrome type 1 was recognized at an older age because of marked olivopontocerebellar atrophy seen on MRI. Previous CT findings were interpreted as showing Dandy-Walker malformation. Three of the patients are also among the oldest reported with this syndrome.

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Year:  1996        PMID： 8923302     DOI： 10.1007/bf00873975

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


  22 in total

Review 1.  The carbohydrate-deficient glycoprotein syndrome. A new inherited multisystemic disease with severe nervous system involvement.

Authors:  J Jaeken; H Stibler; B Hagberg
Journal:  Acta Paediatr Scand Suppl       Date:  1991

2.  Carbohydrate-deficient glycoprotein (CDG) syndrome--a new variant, type III.

Authors:  H Stibler; B Westerberg; F Hanefeld; B Hagberg
Journal:  Neuropediatrics       Date:  1993-02       Impact factor: 1.947

Review 3.  Carbohydrate-deficient glycoprotein syndromes: peculiar group of new disorders.

Authors:  B A Hagberg; G Blennow; B Kristiansson; H Stibler
Journal:  Pediatr Neurol       Date:  1993 Jul-Aug       Impact factor: 3.372

4.  Carbohydrate deficient glycoprotein syndrome type I: ophthalmic aspects in four Sicilian patients.

Authors:  A Fiumara; R Barone; P Buttitta; M Di Pietro; A Scuderi; F Nigro; J Jaeken
Journal:  Br J Ophthalmol       Date:  1994-11       Impact factor: 4.638

5.  Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406.

Authors:  T Martinsson; C Bjursell; H Stibler; B Kristiansson; F Skovby; J Jaeken; G Blennow; P Strömme; F Hanefeld; J Wahlström
Journal:  Hum Mol Genet       Date:  1994-11       Impact factor: 6.150

6.  Neuroradiological findings in the carbohydrate-deficient glycoprotein syndrome.

Authors:  S Akaboshi; K Ohno; K Takeshita
Journal:  Neuroradiology       Date:  1995-08       Impact factor: 2.804

7.  Carbohydrate-deficient glycoprotein syndrome: clinical expression in adults with a new metabolic disease.

Authors:  H Stibler; G Blennow; B Kristiansson; H Lindehammer; B Hagberg
Journal:  J Neurol Neurosurg Psychiatry       Date:  1994-05       Impact factor: 10.154

Review 8.  Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset.

Authors:  P G Barth
Journal:  Brain Dev       Date:  1993 Nov-Dec       Impact factor: 1.961

9.  Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I.

Authors:  E Van Schaftingen; J Jaeken
Journal:  FEBS Lett       Date:  1995-12-27       Impact factor: 4.124

10.  Inherited syndrome of microcephaly, dyskinesia and pontocerebellar hypoplasia: a systemic atrophy with early onset.

Authors:  P G Barth; G F Vrensen; H B Uylings; J W Oorthuys; F C Stam
Journal:  J Neurol Sci       Date:  1990-06       Impact factor: 3.181
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  6 in total

1.  [Dysmorphia and psychomotor retardation].

Authors:  T Struffert; E M Feldmann; O Schofer; W Reith
Journal:  Radiologe       Date:  2005-03       Impact factor: 0.635

Review 2.  Recognizable phenotypes in CDG.

Authors:  Carlos R Ferreira; Ruqaia Altassan; Dorinda Marques-Da-Silva; Rita Francisco; Jaak Jaeken; Eva Morava
Journal:  J Inherit Metab Dis       Date:  2018-04-13       Impact factor: 4.982

3.  Lysosomal enzyme activities in serum and leukocytes from patients with carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase deficiency).

Authors:  R Barone; H Carchon; E Jansen; L Pavone; A Fiumara; N U Bosshard; R Gitzelmann; J Jaeken
Journal:  J Inherit Metab Dis       Date:  1998-04       Impact factor: 4.982

4.  Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins.

Authors:  J Jaeken; J Artigas; R Barone; A Fiumara; T J de Koning; B T Poll-The; J F de Rijk-van Andel; G F Hoffmann; B Assmann; E Mayatepek; M Pineda; M A Vilaseca; J M Saudubray; B Schlüter; R Wevers; E Van Schaftingen
Journal:  J Inherit Metab Dis       Date:  1997-07       Impact factor: 4.982

5.  A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation.

Authors:  Rita Barone; M Carrozzi; R Parini; R Battini; D Martinelli; M Elia; M Spada; F Lilliu; G Ciana; A Burlina; V Leuzzi; M Leoni; L Sturiale; G Matthijs; J Jaeken; M Di Rocco; D Garozzo; A Fiumara
Journal:  J Neurol       Date:  2014-10-30       Impact factor: 4.849

6.  Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG).

Authors:  Fabio Pettinato; Giovanni Mostile; Roberta Battini; Diego Martinelli; Annalisa Madeo; Elisa Biamino; Daniele Frattini; Domenico Garozzo; Serena Gasperini; Rossella Parini; Fabio Sirchia; Giuseppe Sortino; Luisa Sturiale; Gert Matthijs; Amelia Morrone; Maja Di Rocco; Renata Rizzo; Jaak Jaeken; Agata Fiumara; Rita Barone
Journal:  Cerebellum       Date:  2021-02-22       Impact factor: 3.847
  6 in total

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