Natural History of Vanishing White Matter

Annals of Neurology
Eline M HamiltonMarjo S van der Knaap

Abstract

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. 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. 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 seve...Continue Reading

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Citations

May 28, 2019·Neuromolecular Medicine·Melisa HerreroOrna Elroy-Stein
May 3, 2019·The Journal of Neuropsychiatry and Clinical Neurosciences·Andrea AccogliRoberta La Piana
Dec 13, 2019·Expert Review of Neurotherapeutics·Mahmoud Reza AshrafiAli Reza Tavasoli
Apr 16, 2020·Acta Neuropathologica Communications·Aurélien TrimouilleAnnie Laquerrière
Sep 1, 2020·Journal of Clinical Immunology·Rakesh Kumar PilaniaAmit Rawat
Feb 20, 2019·Der Nervenarzt·Florian BuggleArmin J Grau
Aug 14, 2019·Annals of Clinical and Translational Neurology·Truus E M AbbinkMarjo S van der Knaap
Mar 30, 2020·BMC Psychiatry·Cyrus Sh HoMark Walterfang
Jan 13, 2021·Molecular Genetics & Genomic Medicine·Inna SlynkoMarjo S van der Knaap
Nov 28, 2020·Annals of Clinical and Translational Neurology·Agustí Rodríguez-PalmeroAurora Pujol
May 7, 2021·The Journal of Neuropsychiatry and Clinical Neurosciences·Catalina CosteiRoberta La Piana
Jun 30, 2021·Radiology·Menno D StellingwerffMarjo S van der Knaap

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