Position effect on PLP1 may cause a subset of Pelizaeus-Merzbacher disease symptoms
| Autor: | Martijn H. Breuning, Gudrun A. Rappold, V. Endris, Mark T. Ross, David Vetrie, Nadja Muncke, B.S. Wogatzky, Erik A. Sistermans, Coriene E. Catsman-Berrevoets |
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| Přispěvatelé: | Human genetics, Amsterdam Reproduction & Development (AR&D) |
| Rok vydání: | 2004 |
| Předmět: |
Genetics
Pediatrics medicine.medical_specialty Ataxia Proteolipid protein 1 Multiple sclerosis Pelizaeus–Merzbacher disease Biology medicine.disease Electronic Letter Genetic defects of metabolism [UMCN 5.1] medicine Spastic Spasticity Chromosome breakage medicine.symptom Paraplegia Genetics (clinical) |
| Zdroj: | Muncke, N, Wogatzky, B S, Breuning, M, Sistermans, E A, Endris, V, Ross, M, Vetrie, D, Catsman-Berrevoets, C E & Rappold, G 2004, ' Position effect on PLP1 may cause a subset of Pelizaeus-Merzbacher disease symptoms. ', Journal of Medical Genetics, vol. 41, no. 12, pp. e121 . https://doi.org/10.1136/jmg.2004.019141 Journal of Medical Genetics, 41(12). BMJ Publishing Group Journal of Medical Genetics, 41, e121-e121 Journal of Medical Genetics, 41, 12, pp. e121-e121 |
| ISSN: | 0022-2593 |
| DOI: | 10.1136/jmg.2004.019141 |
| Popis: | 3 ). Two main forms of the disease, a connatal and a classical type, are recognised. The connatal type has a severe course with feeding problems, progressive pyramidal and extrapyramidal symptoms, laryngeal stridor, microce- phaly, very little development, and a natural disease duration of 5-7 years. The classical type evolves into spastic tetrapar- esis, ataxia, choreoathetoid movements of the limbs, and cognitive impairment. The disorder progresses at a variable rate and some children are able to sit with support or occasionally walk, before slow regression sets in. Seizures may occur in both types (table 1). PMD has been shown to be caused by mutations in the proteolipid protein (PLP1) gene, encoding the major myelin component in the CNS. 45 PLP1 is also involved in the aetiology of X linked spastic paraplegia (SPG2), which manifests as progressive weakness and spasticity of the lower extremities with or without CNS involvement. 67 Mutations causing PMD can be divided into two main categories: duplications of PLP1, which account for the majority of cases (60-70%), and sequence variations within the gene (15-20%). 8 The remaining 10-20% of |
| Databáze: | OpenAIRE |
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