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Journal articles on the topic 'White-vanishing'

Author: Grafiati
Published: 11 December 2022
Last updated: 26 January 2023

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1

van der Knaap, Marjo S., Jan C. Pronk, and Gert C. Scheper. "Vanishing white matter disease." Lancet Neurology 5, no. 5 (May 2006): 413–23. http://dx.doi.org/10.1016/s1474-4422(06)70440-9.

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2

Prange, H., and T. Weber. "„Vanishing white matter disease“." Der Nervenarzt 82, no. 10 (April 20, 2011): 1330–34. http://dx.doi.org/10.1007/s00115-011-3284-9.

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3

Şenol, Utku, Şenay Haspolat, Kamil Karaali, and Ersin Lüleci. "MR Imaging of Vanishing White Matter." American Journal of Roentgenology 175, no. 3 (September 2000): 826–28. http://dx.doi.org/10.2214/ajr.175.3.1750826.

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4

Mukerji, Shibani S., and Florian S. Eichler. "Teaching NeuroImages: Vanishing white matter ovarioleukodystrophy." Neurology 86, no. 24 (June 13, 2016): e248-e248. http://dx.doi.org/10.1212/wnl.0000000000002764.

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5

van der Knaap, M. S., P. G. Barth, F. J. M. Gabreëls, S. Naidu, and H. W. Moser. "Disease of the vanishing white matter." Clinical Neurology and Neurosurgery 99, no. 1 (February 1997): 75. http://dx.doi.org/10.1016/s0303-8467(97)87744-x.

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6

Riecker, Axel, Thomas Nägele, Marco Henneke, and Ludger Schöls. "Late onset vanishing white matter disease." Journal of Neurology 254, no. 4 (March 31, 2007): 544–45. http://dx.doi.org/10.1007/s00415-006-0306-9.

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7

Alamri, Hannadi, Fuad Al Mutairi, Johara Alothman, Ali Alothaim, Majid Alfadhel, and Ahmed Alfares. "Diabetic ketoacidosis in vanishing white matter." Clinical Case Reports 4, no. 8 (June 17, 2016): 717–20. http://dx.doi.org/10.1002/ccr3.597.

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8

Buggle, Florian, Elizabeta Ciric, Timan Boujan, Andreas Ohlenbusch, Jutta Gärtner, and Armin J. Grau. "„Vanishing white matter disease“ im Erwachsenenalter." Der Nervenarzt 90, no. 8 (February 18, 2019): 840–42. http://dx.doi.org/10.1007/s00115-019-0693-7.

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9

van Geertruyden, Peter H. "Radiologists and the Vanishing White Coat." Journal of the American College of Radiology 6, no. 2 (February 2009): 77–78. http://dx.doi.org/10.1016/j.jacr.2008.08.012.

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10

Hamilton, Eline M. C., Hannemieke D. W. van der Lei, Gerre Vermeulen, Jan A. M. Gerver, Charles M. Lourenço, Sakkubai Naidu, Hanna Mierzewska, et al. "Natural History of Vanishing White Matter." Annals of Neurology 84, no. 2 (August 2018): 274–88. http://dx.doi.org/10.1002/ana.25287.

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11

Klok, Melanie D., Marianna Bugiani, Sharon I. de Vries, Wouter Gerritsen, Marjolein Breur, Sophie van der Sluis, Vivi M. Heine, Maarten H. P. Kole, Wia Baron, and Marjo S. van der Knaap. "Axonal abnormalities in vanishing white matter." Annals of Clinical and Translational Neurology 5, no. 4 (March 1, 2018): 429–44. http://dx.doi.org/10.1002/acn3.540.

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12

Man, Jodie H. K., Charlotte A. G. H. van Gelder, Marjolein Breur, Daniel Okkes, Douwe Molenaar, Sophie van der Sluis, Truus Abbink, Maarten Altelaar, Marjo S. van der Knaap, and Marianna Bugiani. "Cortical Pathology in Vanishing White Matter." Cells 11, no. 22 (November 12, 2022): 3581. http://dx.doi.org/10.3390/cells11223581.

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Vanishing white matter (VWM) is classified as a leukodystrophy with astrocytes as primary drivers in its pathogenesis. Magnetic resonance imaging has documented the progressive thinning of cortices in long-surviving patients. Routine histopathological analyses, however, have not yet pointed to cortical involvement in VWM. Here, we provide a comprehensive analysis of the VWM cortex. We employed high-resolution-mass-spectrometry-based proteomics and immunohistochemistry to gain insight into possible molecular disease mechanisms in the cortices of VWM patients. The proteome analysis revealed 268 differentially expressed proteins in the VWM cortices compared to the controls. A majority of these proteins formed a major protein interaction network. A subsequent gene ontology analysis identified enrichment for terms such as cellular metabolism, particularly mitochondrial activity. Importantly, some of the proteins with the most prominent changes in expression were found in astrocytes, indicating cortical astrocytic involvement. Indeed, we confirmed that VWM cortical astrocytes exhibit morphological changes and are less complex in structure than control cells. Our findings also suggest that these astrocytes are immature and not reactive. Taken together, we provide insights into cortical involvement in VWM, which has to be taken into account when developing therapeutic strategies.
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13

Islam, Mohammad Imnul, Skazimul Hoque, Md Tariqul Islam, Narayan Chandra Saha, Abdul Matin, AKM Matiur Rahman, and Abu Sadat Md Saleh. "Vanishing White Matter Disease: A Case Report." Bangladesh Journal of Child Health 35, no. 3 (May 6, 2012): 127–29. http://dx.doi.org/10.3329/bjch.v35i3.10526.

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14

Gowdar, Sindu P., Naveen S. Maralihalli, Pramod Setty J, Rajesh Venunath, and Mithila P V. "VANISHING WHITE MATTER DISEASE : A CASE REPORT." Journal of Evidence Based Medicine and Healthcare 2, no. 12 (March 20, 2015): 1879–84. http://dx.doi.org/10.18410/jebmh/2015/265.

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15

van der Knaap, Marjo S., Joshua L. Bonkowsky, Adeline Vanderver, Raphael Schiffmann, Ingeborg Krägeloh-Mann, Enrico Bertini, Genevieve Bernard, et al. "Therapy Trial Design in Vanishing White Matter." Neurology Genetics 8, no. 2 (February 2, 2022): e657. http://dx.doi.org/10.1212/nxg.0000000000000657.

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Vanishing white matter (VWM) is a leukodystrophy caused by recessive variants in the genes EIF2B1-EIF2B5. It is characterized by chronic neurologic deterioration with superimposed stress-provoked episodes of rapid decline. Disease onset spans from the antenatal period through senescence. Age at onset predicts disease evolution for patients with early onset, whereas disease evolution is unpredictable for later onset; patients with infantile and early childhood onset consistently have severe disease with rapid neurologic decline and often early death, whereas patients with later onset have highly variable disease. VWM is rare, but likely underdiagnosed, particularly in adults. Apart from measures to prevent stressors that could provoke acute deteriorations, only symptomatic care is currently offered. With increased insight into VWM disease mechanisms, opportunities for treatment have emerged. EIF2B1-EIF2B5 encode the 5-subunit eukaryotic initiation factor 2B complex, which is essential for translation of mRNAs into proteins and is a principal regulator of the integrated stress response (ISR). ISR deregulation is central to VWM pathology. Targeting components of the ISR has proven beneficial in mutant VWM mouse models, and several drugs are now in clinical development. However, clinical trials in VWM pose considerable challenges: low numbers of known patients with VWM, unpredictable disease course for patients with onset after early childhood, absence of intermediate biomarkers, and novel first-in-human molecular targets. Given these challenges and considering the critical need to offer therapies, we have formulated recommendations for enhanced diagnosis, drug trial setup, and patient selection, based on our expert evaluation of molecular, laboratory, and clinical data.
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16

Fontenelle, Lucia Maria da Costa, Gert C. Scheper, Lara Brandão, and Marjo S. van der Knaap. "Atypical presentation of vanishing white matter disease." Arquivos de Neuro-Psiquiatria 66, no. 3a (September 2008): 549–51. http://dx.doi.org/10.1590/s0004-282x2008000400022.

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17

Barros, Sandra R., Sónia C. R. Parreira, Ana F. B. Miranda, Ana M. B. Pereira, and Nuno M. P. Campos. "New Insights in Vanishing White Matter Disease." Journal of Neuro-Ophthalmology 38, no. 1 (March 2018): 42–46. http://dx.doi.org/10.1097/wno.0000000000000565.

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18

Biotti, Damien, Jeanne Lajoie, Fabrice Bonneville, Simon Samaan, and Pierre Labauge. "New Insights in Vanishing White Matter Disease." Journal of Neuro-Ophthalmology 38, no. 4 (December 2018): 571–72. http://dx.doi.org/10.1097/wno.0000000000000705.

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19

Proud, Christopher G. "Vanishing white matter: the next 10 years." Future Neurology 7, no. 1 (January 2012): 81–92. http://dx.doi.org/10.2217/fnl.11.63.

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20

Davis, Jack L. "The Vanishing White Man by Stan Steiner." Western American Literature 23, no. 1 (1988): 83–84. http://dx.doi.org/10.1353/wal.1988.0070.

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21

van der Knaap, M. S., P. G. Barth, F. J. M. Gabreels, E. Franzoni, J. H. Begeer, H. Stroink, J. J. Rotteveel, and J. Valk. "A new leukoencephalopathy with vanishing white matter." Neurology 48, no. 4 (April 1, 1997): 845–54. http://dx.doi.org/10.1212/wnl.48.4.845.

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22

Rudenskaya, G. E., and E. Yu Zakharova. "Adult-Onset Leukoencephalopathy with Vanishing White Matter." Human Physiology 43, no. 8 (December 2017): 898–903. http://dx.doi.org/10.1134/s0362119717080084.

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23

Bugiani, Marianna, Ilja Boor, James M. Powers, Gert C. Scheper, and Marjo S. van der Knaap. "Leukoencephalopathy With Vanishing White Matter: A Review." Journal of Neuropathology & Experimental Neurology 69, no. 10 (October 2010): 987–96. http://dx.doi.org/10.1097/nen.0b013e3181f2eafa.

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24

Matsui, Masaru, Kotaro Mizutani, Yukio Miki, Takahiro Mezaki, Yuu Takahashi, and Hiroshi Shibasaki. "Adult-onset leukoencephalopathy with vanishing white matter." European Journal of Radiology Extra 46, no. 3 (June 2003): 90–92. http://dx.doi.org/10.1016/s1571-4675(03)00054-3.

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25

Uran, N., S. Kalkan, and S. Arslanoǧlu. "045 Megalencephalic leucoencephalopathy with vanishing white matter." European Journal of Paediatric Neurology 3, no. 6 (January 1999): A105. http://dx.doi.org/10.1016/s1090-3798(99)91264-3.

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26

Leegwater, P. A. J., L. A. Sandkuijl, S. Naidu, J. C. Pronk, and M. S. Van Der Knaap. "034 Chromosomal location of vanishing white matter." European Journal of Paediatric Neurology 3, no. 6 (January 1999): A105. http://dx.doi.org/10.1016/s1090-3798(99)91265-5.

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27

van der Lei, H. D. W., M. E. Steenweg, M. Bugiani, P. J. W. Pouwels, W. N. van Wieringen, and M. S. van der Knaap. "P18.3 Restricted diffusion in vanishing white matter." European Journal of Paediatric Neurology 15 (May 2011): S105. http://dx.doi.org/10.1016/s1090-3798(11)70363-4.

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28

Güngör, Gülay, Olcay Güngör, Seda Çakmaklı, Hülya Maraş Genç, Hülya İnce, Gözde Yeşil, Cengiz Dilber, and Kürşad Aydın. "Vanishing white matter disease with different faces." Child's Nervous System 36, no. 2 (August 5, 2019): 353–61. http://dx.doi.org/10.1007/s00381-019-04334-6.

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29

Kundu, Gopen Kumar, Rumana Islam, and Noor A. Saba. "Vanishing White Matter Disease- Report of two Cases." Journal of Bangladesh College of Physicians and Surgeons 40, no. 4 (October 16, 2022): 314–17. http://dx.doi.org/10.3329/jbcps.v40i4.61897.

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Vanishing white matter (VWM) disease is a chronic progressive childhood onset leukodystrophy that result in central nervous system demyelination, often precipitated by some stressful events. There is wide phenotypic variation buy typical MRI findings are diagnostic in most of the patients. Here we report two cases of vanishing white matter disease with typical MRI findings. J Bangladesh Coll Phys Surg 2022; 40: 314-317
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30

Beavers, K. M., M. A. Flores, A. I. Dagli, and S. A. Messina. "Infantile Vanishing White Matter Disease: A Case Report." Neurographics 8, no. 1 (February 1, 2018): 22–24. http://dx.doi.org/10.3174/ng.9170223.

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31

Turón-Viñas, Eulàlia, Mercè Pineda, Victòria Cusí, Eduardo López-Laso, Rebeca Losada Del Pozo, Luis González Gutiérrez-Solana, David Conejo Moreno, et al. "Vanishing White Matter Disease in a Spanish Population." Journal of Central Nervous System Disease 6 (January 2014): JCNSD.S13540. http://dx.doi.org/10.4137/jcnsd.s13540.

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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.
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32

Guler, Serhat, Adnan Yuksel, Akıi Iscan, Ilhan Isik, and Burak Tatli. "Vanishing white matter leukodystrophy, a rare case report." Türk Pediatri Arşivi 48, no. 1 (March 1, 2013): 78–79. http://dx.doi.org/10.4274/tpa.1075.

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33

Unal, Ozlem, Burce Ozgen, Diclehan Orhan, Aysegul Tokatli, Burcu Ozturk Hismi, Ali Dursun, Turgay Coskun, and H. Serap Kalkanoglu-Sivri. "Vanishing White Matter With Hepatomegaly and Hypertriglyceridemia Attacks." Journal of Child Neurology 28, no. 11 (September 18, 2012): 1509–12. http://dx.doi.org/10.1177/0883073812458711.

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34

Rodriguez, D., A. Gelot, M. S. van der Knaap, and W. Kamphorst. "Phenotypic variation in leukoencephalopathy with vanishing white matter." Neurology 53, no. 6 (October 1, 1999): 1373. http://dx.doi.org/10.1212/wnl.53.6.1373.

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35

Topçu, M., I. Saatci, R. Anil Apak, and F. Söylemezoglu. "A Case of Leukoencephalopathy with Vanishing White Matter*." Neuropediatrics 31, no. 3 (April 2000): 100–103. http://dx.doi.org/10.1055/s-2000-7481.

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36

van der Knaap, M. S., W. Kamphorst, P. G. Barth, C. L. Kraaijeveld, E. Gut, and J. Valk. "Phenotypic variation in leukoencephalopathy with vanishing white matter." Neurology 51, no. 2 (August 1998): 540–47. http://dx.doi.org/10.1212/wnl.51.2.540.

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Objective: The objective of this study is to describe milder and later onset variants of a recently described leukoencephalopathy with vanishing white matter.Background: The diagnostic criteria used currently for this disease include an early-childhood onset of neurologic deterioration.Methods: Clinical, MRI, and spectroscopic findings of five patients were reviewed who fulfilled all inclusion criteria for the disease of vanishing white matter, apart from the age at onset. In one patient histopathologic findings were documented.Results: Onset of the disease was in late childhood or adolescence in four patients, and one patient was still presymptomatic in his early twenties. The course of the disease tended to be milder than in the patients with early-childhood onset. MRI revealed a diffuse cerebral hemispheric leukoencephalopathy with evidence of white matter rarefaction. MRS of the abnormal white matter showed a serious decrease but not complete disappearance of all "normal" signals and, in some patients, the presence of extra signals from lactate and glucose. Changes in relative spectral peak heights were compatible with axonal damage or loss, but not with active demyelination or substantial gliosis. Autopsy in one patient confirmed the extensive rarefaction of the cerebral white matter. There was a commensurate loss of axons and myelin sheaths. Within the brainstem, pontine lesions were present, also involving the central tegmental tracts-a phenomenon previously described in early-onset patients.Conclusion: Later onset does occur in the disease of vanishing white matter, and both MRS and histopathology are compatible with a primary axonopathy rather than primary demyelination.
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37

Bugiani, Marianna, Ilja Boor, Barbara van Kollenburg, Nienke Postma, Emiel Polder, Carola van Berkel, Ronald E. van Kesteren, et al. "Defective Glial Maturation in Vanishing White Matter Disease." Journal of Neuropathology & Experimental Neurology 70, no. 1 (January 2011): 69–82. http://dx.doi.org/10.1097/nen.0b013e318203ae74.

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38

Piñeiro, M. S., M. López, and J. Sánchez-Herrero. "Adult onset of leukoencephalopathy with vanishing white matter." Neurología (English Edition) 25, no. 3 (April 2010): 203–4. http://dx.doi.org/10.1016/s2173-5808(10)70041-9.

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39

Pérez-Sánchez, S., J. M. López-Domínguez, J. Ardúan, and G. Izquierdo. "Diffusion tensor tractography in vanishing white matter disease." Neurología (English Edition) 26, no. 2 (2011): 122–23. http://dx.doi.org/10.1016/s2173-5808(11)70025-6.

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40

Ramaswamy, Vijay, Alicia K. Chan, and Hanna K. Kolski. "Vanishing White Matter Disease With Periodic (Paroxysmal) Hemiparesis." Pediatric Neurology 35, no. 1 (July 2006): 65–68. http://dx.doi.org/10.1016/j.pediatrneurol.2005.12.014.

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41

van der Knaap, M. S., E. M. C. Hamilton, H. D. W. van der Lei, R. J. B. J. Gemke, B. M. J. Uitdehaag, R. de Vet, and B. I. Witte. "The natural disease course of Vanishing White Matter." European Journal of Paediatric Neurology 21 (June 2017): e163. http://dx.doi.org/10.1016/j.ejpn.2017.04.1203.

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42

van der Knaap, Marjo S., and Truus E. M. Abbink. "Ovarioleukodystrophy: Vanishing white matter versus AARS2-related ovarioleukodystrophy." Clinical Neurology and Neurosurgery 171 (August 2018): 195. http://dx.doi.org/10.1016/j.clineuro.2018.06.024.

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43

van der Knaap, Marjo S., and Gert C. Scheper. "Not all cystic leukoencephalopathies are “vanishing white matter”." Molecular Genetics and Metabolism 103, no. 4 (August 2011): 413. http://dx.doi.org/10.1016/j.ymgme.2011.04.011.

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44

Pineda, M., A. R-Palmero, M. Baquero, M. O'Callaghan, A. Aracil, M. Knaap, and G. Scheper. "Vanishing White Matter Disease Associated with Progressive Macrocephaly." Neuropediatrics 39, no. 1 (February 2008): 29–32. http://dx.doi.org/10.1055/s-2008-1076738.

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45

Villar-Quiles, Rocío-Nur, Celia Delgado-Suárez, Manuela Jorquera-Moya, Javier Arpa-Gutiérrez, and Gloria Ortega-Suero. "Teaching NeuroImages: Adult-onset vanishing white matter disease." Neurology 90, no. 12 (March 19, 2018): e1091-e1092. http://dx.doi.org/10.1212/wnl.0000000000005180.

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46

van der Lei, H. D. W., C. G. M. van Berkel, W. N. van Wieringen, C. Brenner, A. Feigenbaum, S. Mercimek-Mahmutoglu, M. Philippart, et al. "Genotype-phenotype correlation in vanishing white matter disease." Neurology 75, no. 17 (October 25, 2010): 1555–59. http://dx.doi.org/10.1212/wnl.0b013e3181f962ae.

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47

Labauge, Pierre, Anne Fogli, Giovanni Castelnovo, Alice Le Bayon, Laetitia Horzinski, François Nicoli, Patrick Cozzone, et al. "Dominant form of vanishing white matter-like leukoencephalopathy." Annals of Neurology 58, no. 4 (2005): 634–39. http://dx.doi.org/10.1002/ana.20573.

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48

Mithal, Divakar S., and Jennifer P. Rubin. "A Promising Small Molecule for Vanishing White Matter Disease." Pediatric Neurology Briefs 32 (August 28, 2018): 5. http://dx.doi.org/10.15844/pedneurbriefs-32-5.

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49

Parihar, Jasmine, Deepti Vibha, Roopa Rajan, Awadh Kishor Pandit, Achal Kumar Srivastava, and Kameshwar Prasad. "Vanishing White Matter Disease Presenting as Dementia and Infertility." Neurology Genetics 8, no. 3 (May 31, 2022): e643. http://dx.doi.org/10.1212/nxg.0000000000000643.

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ObjectivesVanishing white matter (VWM), an inherited leukoencephalopathy affecting the brain and the spinal cord, is most often a childhood-onset progressive disorder, generally presenting with ataxia. The adult-onset VWM is relatively rare with slowly progressive cognitive dysfunction dominating the clinical presentation. We report a case of adult-onset VWM from the Indian subcontinent.MethodsExome sequencing.ResultsA 58-year-old woman with young-onset diabetes and hypertension presented with gradually progressive cognitive decline beginning at age 40 years. She had early and predominant executive dysfunction and emotional lability and late involvement of memory and navigation. In addition to cognitive dysfunction, the patient experienced bladder and bowel incontinence along with a spastic gait. She also had primary infertility and menopause at age 40 years. Two of the patient's sisters had primary infertility; one of them had urine and stool incontinence along with gait disturbance. An MRI examination of the brain showed diffuse, symmetrical T2/fluid-attenuated inversion recovery white matter hyperintensities. On genetic testing, the patient was found to be homozygous for c.687T>G variation in the EIF2B3 gene.DiscussionAdult-onset VWM is rare. Infertility in an adult patient with progressive cognitive decline should raise a suspicion of VWM.
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50

Stellingwerff, Menno D., Murtadha L. Al-Saady, Tim van de Brug, Frederik Barkhof, Petra J. W. Pouwels, and Marjo S. van der Knaap. "MRI Natural History of the Leukodystrophy Vanishing White Matter." Radiology 300, no. 3 (September 2021): 671–80. http://dx.doi.org/10.1148/radiol.2021210110.

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