Vanishing White Matter Disease in a Spanish Population

• Published in: Journal of Central Nervous System Disease Vol. 2014; no. 6; pp. 59 - 68
• Main Authors: Turón-Viñas, Eulàlia, Pineda, Mercè, Cusí, Victòria, López-Laso, Eduardo, Del Pozo, Rebeca Losada, Gutiérrez-Solana, Luis González, Moreno, David Conejo, Sierra-Córcoles, Concha, Olabarrieta-Hoyos, Naiara, Madruga-Garrido, Marcos, Aguirre-Rodríguez, Javier, González-Álvarez, Verónica, O'callaghan, Mar, Muchart, Jordi, Armstrong-Moron, Judith
• Format: Journal Article Book Review
• Language: English
• Published: London, England Libertas Academica 01.01.2014; SAGE Publishing; SAGE Publications; Sage Publications Ltd. (UK); Sage Publications Ltd
• Subjects: Ataxia; Demographic aspects; Gene mutations; Genetic aspects; Magnetic resonance imaging; Patient outcomes; Physiological aspects; Short Review; vanishing white matter disease; leukodystrophy; genetics; pathology; children; Spain
• ISSN: 1179-5735; 1179-5735
• DOI: 10.4137/JCNSD.S13540

Vanishing white matter (VWM) leukoencephalopathy is one of the most prevalent hereditary white matter diseases. It has been associated with mutations in genes encoding eukaryotic translation initiation factor (eIF2B). We have compiled a list of all the patients diagnosed with VWM in Spain; we found 21 children. The first clinical manifestation in all of them was spasticity, with severe ataxia in six patients, hemiparesis in one child, and dystonic movements in another. They suffered from progressive cognitive deterioration and nine of them had epilepsy too. In four children, we observed optic atrophy and three also had progressive macrocephaly, which is not common in VWM disease. The first two cases were diagnosed before the 1980s. Therefore, they were diagnosed by necropsy studies. The last 16 patients were diagnosed according to genetics: we found mutations in the genes eIF2B5 (13 cases), eIF2B3 (2 cases), and eIF2B4 (1 case). In our report, the second mutation in frequency was c.318A>T; patients with this mutation all followed a slow chronic course, both in homozygous and heterozygous states. Previously, there were no other reports to confirm this fact. We also found some mutations not described in previous reports: c.1090C>T in eIF2B4, c.314A>G in eIF2B5, and c.877C>T in eIF2B5.