Dominant form of vanishing white matter-like leukoencephalopathy
| Autor: | Olivier Delhaume, Patrick J. Cozzone, Laetitia Horzinski, Odile Boespflug-Tanguy, F. Nicoli, Michel Pagès, Christiane Marty-Double, Anne Fogli, Antoinette Gelot, Pierre Labauge, Caroline Briere, Giovanni Castelnovo, Alice Le Bayon, Diana Rodriguez |
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| Rok vydání: | 2005 |
| Předmět: |
Adult
Male medicine.medical_specialty Pathology Ataxia genetic structures Central nervous system Biology medicine.disease_cause Leukoencephalopathy White matter Vanishing white matter disease Leukoencephalopathy with vanishing white matter Internal medicine medicine Humans Mutation Dementia Vascular medicine.disease Magnetic Resonance Imaging Eukaryotic Initiation Factor-2B Hereditary Central Nervous System Demyelinating Diseases medicine.anatomical_structure Endocrinology Neurology eIF2B biology.protein Female Neurology (clinical) medicine.symptom |
| Zdroj: | Annals of Neurology. 58:634-639 |
| ISSN: | 1531-8249 0364-5134 |
| Popis: | Leukoencephalopathy with vanishing white matter syndrome (childhood ataxia with central nervous system hypomyelination/vanishing white matter disease) is an autosomal recessive disorder characterized by the occurrence of acute episodes of deterioration after minor head trauma or infection, and symmetrical demyelination on magnetic resonance with cavitation aspects. Mutations in each of the five subunits of eIF2B have been identified. We report in an affected man and his mother an adult-onset form of childhood ataxia with central nervous system hypomyelination/vanishing white matter disease-like disorder with no mutations in the EIF2B genes and normal guanine nucleotide exchange factor eIF2B activity, suggesting a new dominant inheritance of this syndrome that may involve other genes. |
| Databáze: | OpenAIRE |
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