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

Lorenzo Pavone; Agata Fiumara; Rita Barone; Renata Rizzo; Piera Buttitta; William B. Dobyns; Jaak Jaeken

doi:10.1007/BF00873975

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

Lorenzo Pavone, Agata Fiumara, Rita Barone, Renata Rizzo, Piera Buttitta, William B. Dobyns, Jaak Jaeken

Pediatric Genetics & Metabolism

Research output: Contribution to journal › Article › peer-review

21 Scopus citations

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.

Original language	English (US)
Pages (from-to)	700-705
Number of pages	6
Journal	Journal of Neurology
Volume	243
Issue number	10
DOIs	https://doi.org/10.1007/BF00873975
State	Published - 1996

Keywords

Carbohydrate-deficient glycoprotein syndrome
Olivopontocerebellar atrophy

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10.1007/BF00873975

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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.",

keywords = "Carbohydrate-deficient glycoprotein syndrome, Olivopontocerebellar atrophy",

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T1 - Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I

AU - Pavone, Lorenzo

AU - Fiumara, Agata

AU - Barone, Rita

AU - Rizzo, Renata

AU - Buttitta, Piera

AU - Dobyns, William B.

AU - Jaeken, Jaak

PY - 1996

Y1 - 1996

N2 - 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.

AB - 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.

KW - Carbohydrate-deficient glycoprotein syndrome

KW - Olivopontocerebellar atrophy

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JF - Deutsche Zeitschrift fur Nervenheilkunde

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ER -

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

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