Natural History of Vanishing White Matter
| Autor: | Hamilton, E. M. C., van der Lei, H. D. W., Vermeulen, G., Gerver, J. A. M., Lourenco, C. M., Naidu, S., Mierzewska, H., Gemke, R. J. B. J., de Vet, H. C. W., Uitdehaag, B. M. J., Lissenberg-Witte, B. I., Research Group, V. W. M., van der Knaap, M. S., Ferlini, A. |
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| Přispěvatelé: | Functional Genomics, Fluss, Joel Victor |
| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
Adult
Male Adolescent NO Young Adult SDG 3 - Good Health and Well-being Leukoencephalopathies Leukoencephalopathies/diagnostic imaging/epidemiology/genetics Humans Longitudinal Studies LS5_2 Age of Onset Child Preschool Research Articles ddc:618 White Matter/diagnostic imaging Infant Newborn Infant Middle Aged Newborn White Matter Child Preschool Female Follow-Up Studies Research Article |
| Zdroj: | Annals of Neurology, 84(2), 274-288. John Wiley and Sons Inc. Annals of Neurology, Vol. 84, No 2 (2018) pp. 274-288 Hamilton, E M C, van der Lei, H D W, Vermeulen, G, Gerver, J A M, Lourenço, C M, Naidu, S, Mierzewska, H, Gemke, R J B J, de Vet, H C W, Uitdehaag, B M J, Lissenberg-Witte, B I, Research Group, V W M & van der Knaap, M S 2018, ' Natural History of Vanishing White Matter ', Annals of Neurology, vol. 84, no. 2, pp. 274-288 . https://doi.org/10.1002/ana.25287 Hamilton, E M C, van der Lei, H D W, Vermeulen, G, Gerver, J A M, Lourenço, C M, Naidu, S, Mierzewska, H, Gemke, R J B J, de Vet, H C W, Uitdehaag, B M J, Lissenberg-Witte, B I, van der Knaap, M S, VWM Research Group & Østergaard, J R 2018, ' Natural History of Vanishing White Matter ', Annals of Neurology, vol. 84, no. 2, pp. 274-288 . https://doi.org/10.1002/ana.25287 Annals of Neurology |
| ISSN: | 0364-5134 |
| Popis: | OBJECTIVE: To comprehensively describe the natural history of vanishing white matter (VWM), aiming at improving counseling of patients/families and providing natural history data for future therapeutic trials.METHODS: We performed a longitudinal multicenter study among 296 genetically confirmed VWM patients. Clinical information was obtained via disease-specific clinical questionnaire, Health Utilities Index and Guy's Neurological Disability Scale assessments, and chart review.RESULTS: First disease signs occurred at a median age of 3 years (mode = 2 years, range = before birth to 54 years); 60% of patients were symptomatic before the age of 4 years. The nature of the first signs varied for different ages of onset. Overall, motor problems were the most common presenting sign, especially in children. Adolescent and adult onset patients were more likely to exhibit cognitive problems early after disease onset. One hundred two patients were deceased. Multivariate Cox regression analysis revealed a positive relation between age at onset and both preservation of ambulation and survival. Absence of stress-provoked episodes and absence of seizures predicted more favorable outcome. In patients with onset before 4 years, earlier onset was associated with more severe disability and higher mortality. For onset from 4 years on, disease course was generally milder, with a wide variation in severity. There were no significant differences for sex or for the 5 eIF2B gene groups. The results confirm the presence of a genotype-phenotype correlation.INTERPRETATION: The VWM disease spectrum consists of a continuum with extremely wide variability. Age at onset is a strong predictor for disease course. Ann Neurol 2018;84:274-288. |
| Databáze: | OpenAIRE |
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