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Vanishing white matter disease in a spanish population.

Turón-Viñas E, Pineda M, Cusí V, López-Laso E, Del Pozo RL, Gutiérrez-Solana LG, Moreno DC, Sierra-Córcoles C, Olabarrieta-Hoyos N, Madruga-Garrido M, Aguirre-Rodríguez J, González-Álvarez V, O'Callaghan M, Muchart J, Armstrong-Moron J - J Cent Nerv Syst Dis (2014)

Bottom Line: We have compiled a list of all the patients diagnosed with VWM in Spain; we found 21 children.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).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.

View Article: PubMed Central - PubMed

Affiliation: Neurology Department, Fundació, Hospital Sant Joan de Déu, Barcelona, Spain. ; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Spain.

ABSTRACT
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.

No MeSH data available.


Related in: MedlinePlus

Patient n.1: macroscopic detail: hemispheric white matter with cystic degeneration from subcortical to periventricular areas.
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f3-jcnsd-6-2014-059: Patient n.1: macroscopic detail: hemispheric white matter with cystic degeneration from subcortical to periventricular areas.

Mentions: The necropsy findings were consistent with previously reported and included brain atrophy, which spared both the cortex and the cerebellum and was associated with ventricle dilation, with a decrease in the white matter of the centrum semiovale and the corpus callosum, while some of the U fibers were better preserved. Microscopically, we found that the cortex was quite preserved, but the affected white matter showed important myelin loss, vacuolation, and cystic changes, with some glial septa inside the cysts. There was also an infiltration of T lymphocytes and astrocytes, which mostly affected the white matter and also the cortex. The cerebellum was less affected (Figs. 3–6).


Vanishing white matter disease in a spanish population.

Turón-Viñas E, Pineda M, Cusí V, López-Laso E, Del Pozo RL, Gutiérrez-Solana LG, Moreno DC, Sierra-Córcoles C, Olabarrieta-Hoyos N, Madruga-Garrido M, Aguirre-Rodríguez J, González-Álvarez V, O'Callaghan M, Muchart J, Armstrong-Moron J - J Cent Nerv Syst Dis (2014)

Patient n.1: macroscopic detail: hemispheric white matter with cystic degeneration from subcortical to periventricular areas.
© Copyright Policy - open-access
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC4116383&req=5

f3-jcnsd-6-2014-059: Patient n.1: macroscopic detail: hemispheric white matter with cystic degeneration from subcortical to periventricular areas.
Mentions: The necropsy findings were consistent with previously reported and included brain atrophy, which spared both the cortex and the cerebellum and was associated with ventricle dilation, with a decrease in the white matter of the centrum semiovale and the corpus callosum, while some of the U fibers were better preserved. Microscopically, we found that the cortex was quite preserved, but the affected white matter showed important myelin loss, vacuolation, and cystic changes, with some glial septa inside the cysts. There was also an infiltration of T lymphocytes and astrocytes, which mostly affected the white matter and also the cortex. The cerebellum was less affected (Figs. 3–6).

Bottom Line: We have compiled a list of all the patients diagnosed with VWM in Spain; we found 21 children.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).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.

View Article: PubMed Central - PubMed

Affiliation: Neurology Department, Fundació, Hospital Sant Joan de Déu, Barcelona, Spain. ; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Spain.

ABSTRACT
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.

No MeSH data available.


Related in: MedlinePlus