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EnglishThe 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.
| Titolo: | Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I |
| Autori interni: | |
| Data di pubblicazione: | 1996 |
| Rivista: | |
| Citazione: | Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I / Pavone L; Fiumara A; Barone R; Rizzo R; Buttitta P; Dobyns WB; Jaeken J. - In: JOURNAL OF NEUROLOGY. - ISSN 0340-5354. - 243:10(1996), pp. 700-705. |
| 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. |
| Handle: | http://hdl.handle.net/20.500.11769/13136 |
| Appare nelle tipologie: | 1.1 Articolo in rivista |
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