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Journal articles on the topic 'Leukodystrophies'

Author: Grafiati

Published: 4 June 2021

Last updated: 1 February 2022

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1

van der Knaap, Marjo S., Nicole I. Wolf, and Vivi M. Heine. "Leukodystrophies." Neurology: Clinical Practice 6, no. 6 (2016): 506–14. http://dx.doi.org/10.1212/cpj.0000000000000289.

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2

Lyon, Gilles, Aviva Fattal-Valevski, and Edwin H. Kolodny. "Leukodystrophies." Topics in Magnetic Resonance Imaging 17, no. 4 (2006): 219–42. http://dx.doi.org/10.1097/rmr.0b013e31804c99d4.

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3

Costello, Daniel J., April F. Eichler, and Florian S. Eichler. "Leukodystrophies." Neurologist 15, no. 6 (2009): 319–28. http://dx.doi.org/10.1097/nrl.0b013e3181b287c8.

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4

Barañano, Kristin. "Leukodystrophies." Seminars in Neurology 36, no. 04 (2016): 362–66. http://dx.doi.org/10.1055/s-0036-1585455.

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5

Waldman, Amy T. "Leukodystrophies." CONTINUUM: Lifelong Learning in Neurology 24, no. 1 (2018): 130–49. http://dx.doi.org/10.1212/con.0000000000000560.

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6

Leite, Claudia Costa, Leandro Tavares Lucato, Germana Titoneli Santos, Fernando Kok, Anderson Rodrigues Brandão, and Mauricio Castillo. "Imaging of adult leukodystrophies." Arquivos de Neuro-Psiquiatria 72, no. 8 (2014): 625–32. http://dx.doi.org/10.1590/0004-282x20140095.

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Leukodystrophies are genetically determined white matter disorders. Even though leukodystrophies essentially affect children in early infancy and childhood, these disorders may affect adults. In adults, leukodystrophies may present a distinct clinical and imaging presentation other than those found in childhood. Clinical awareness of late-onset leukodystrophies should be increased as new therapies emerge. MRI is a useful tool to evaluate white matter disorders and some characteristics findings can help the diagnosis of leukodystrophies. This review article briefly describes the imaging charact

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7

Lindquist, Diana, and Kim Cecil. "Primary leukodystrophies." Journal of Pediatric Neuroradiology 02, no. 01 (2015): 033–45. http://dx.doi.org/10.3233/pnr-13045.

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8

Powers, James M., and Ana Rubio. "Selected leukodystrophies." Seminars in Pediatric Neurology 2, no. 3 (1995): 200–210. http://dx.doi.org/10.1016/s1071-9091(05)80031-2.

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9

Köhler, Wolfgang, Julian Curiel, and Adeline Vanderver. "Adulthood leukodystrophies." Nature Reviews Neurology 14, no. 2 (2018): 94–105. http://dx.doi.org/10.1038/nrneurol.2017.175.

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10

Menkes, John H. "The Leukodystrophies." New England Journal of Medicine 322, no. 1 (1990): 54–55. http://dx.doi.org/10.1056/nejm199001043220110.

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11

Gordon, Hannah, Anthea Letsou, and Joshua Bonkowsky. "The Leukodystrophies." Seminars in Neurology 34, no. 03 (2014): 312–20. http://dx.doi.org/10.1055/s-0034-1386769.

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12

Vanderver, Adeline. "Update on leukodystrophies." Future Neurology 2, no. 5 (2007): 559–65. http://dx.doi.org/10.2217/14796708.2.5.559.

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13

Pastores, Gregory M. "LEUKOENCEPHALOPATHIES AND LEUKODYSTROPHIES." CONTINUUM: Lifelong Learning in Neurology 16 (April 2010): 102–19. http://dx.doi.org/10.1212/01.con.0000368214.63964.fa.

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14

Federico, Antonio. "Classification of leukodystrophies." Molecular and Chemical Neuropathology 27, no. 1 (1996): 3–4. http://dx.doi.org/10.1007/bf02815019.

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15

Singhal, B. S. "Leukodystrophies: Indian scenario." Indian Journal of Pediatrics 72, no. 4 (2005): 315–18. http://dx.doi.org/10.1007/bf02724013.

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16

Baumann, Nicole, and Jean-Claude Turpin. "Adult-onset leukodystrophies." Journal of Neurology 247, no. 10 (2000): 751–59. http://dx.doi.org/10.1007/s004150070088.

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17

Bonkowsky, Joshua L., Jacob Wilkes, Jian Ying, and Wei-Qi Wei. "Novel and known morbidities of leukodystrophies identified using a phenome-wide association study." Neurology: Clinical Practice 10, no. 5 (2019): 406–14. http://dx.doi.org/10.1212/cpj.0000000000000783.

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ObjectiveTo determine shared comorbidities and to identify underrecognized or unexpected morbidities in children with leukodystrophies using an unbiased phenome-wide association study (PheWAS) analysis of a nationwide pediatric clinical and financial database.MethodsData were extracted from the Pediatric Health Information System database. Patients with leukodystrophy were identified with International Classification of Diseases, 10th revision, clinical modification, diagnostic codes for any of 4 specific leukodystrophies (X-linked adrenoleukodystrophy (E71.52x), Hurler disease (E76.01), Krabb

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18

Gordon-Lipkin, Eliza, and Ali Fatemi. "Current Therapeutic Approaches in Leukodystrophies: A Review." Journal of Child Neurology 33, no. 13 (2018): 861–68. http://dx.doi.org/10.1177/0883073818792313.

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Leukodystrophies are a heterogeneous class of genetic diseases affecting the white matter in the central nervous system with a broad range of clinical manifestations and a frequently progressive course. An interest in precision medicine has emerged over the last several decades, and biomedical research in leukodystrophies has made exciting advances along this front through therapeutic target discovery and novel disease model systems. In this review, we discuss current and emerging therapeutic approaches in leukodystrophies, including gene therapy, antisense oligonucleotide therapy, CRISPR/CAS-

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19

Keller, Stephanie R., Eric J. Mallack, Jennifer P. Rubin, et al. "Practical Approaches and Knowledge Gaps in the Care for Children With Leukodystrophies." Journal of Child Neurology 36, no. 1 (2020): 65–78. http://dx.doi.org/10.1177/0883073820946154.

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Leukodystrophies are a group of neurodegenerative genetic disorders that affect approximately 1 in 7500 individuals. Despite therapeutic progress in individual leukodystrophies, guidelines in neurologic care are sparse and consensus among physicians and caregivers remains a challenge. At patient advocacy meetings hosted by Hunter’s Hope from 2016-2018, multidisciplinary experts and caregivers met to conduct a literature review, identify knowledge gaps and summarize best practices regarding neurologic care. Stages of severity in leukodystrophies guided recommendations to address different level

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20

Ashrafi, Mahmoud Reza, Zahra Rezaei, Morteza Heidari, et al. "The First Report of Relative Incidence of Inherited White Matter Disorders in an Asian Country Based on an Iranian Bioregistry System." Journal of Child Neurology 33, no. 4 (2018): 255–59. http://dx.doi.org/10.1177/0883073817751804.

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Childhood leukodystrophies are a fast-growing field of pediatric neurology practice. Epidemiologic studies on the incidence of these disorders in children show different results. This is the first report of childhood leukodystrophies incidence from Iran. The enrolled patients were recruited from the neurometabolic bioregistry system that was organized in 2010 in the Children’s Medical Center, Tehran, Iran. Herein is reported the incidence rate of leukodystrophies in those patients who were residents of 2 big popular provinces near Iran’s capital city Tehran, with an average child population of

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21

Eichler, Florian, and Keith Van Haren. "Immune Response in Leukodystrophies." Pediatric Neurology 37, no. 4 (2007): 235–44. http://dx.doi.org/10.1016/j.pediatrneurol.2007.06.011.

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22

Mar, Soe, and Michael Noetzel. "Axonal Damage in Leukodystrophies." Pediatric Neurology 42, no. 4 (2010): 239–42. http://dx.doi.org/10.1016/j.pediatrneurol.2009.08.011.

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23

Schiffmann, Raphael, and Marjo S. van der Knaap. "The latest on leukodystrophies." Current Opinion in Neurology 17, no. 2 (2004): 187–92. http://dx.doi.org/10.1097/00019052-200404000-00017.

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24

Biffi, A., P. Aubourg, and N. Cartier. "Gene therapy for leukodystrophies." Human Molecular Genetics 20, R1 (2011): R42—R53. http://dx.doi.org/10.1093/hmg/ddr142.

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25

Kiechle, Frederick L., and Ronald D. Holmes. "Molecular Biology of Leukodystrophies." Laboratory Medicine 25, no. 10 (1994): 658–63. http://dx.doi.org/10.1093/labmed/25.10.658.

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26

Orchard, Paul J., and Jakub Tolar. "Transplant Outcomes in Leukodystrophies." Seminars in Hematology 47, no. 1 (2010): 70–78. http://dx.doi.org/10.1053/j.seminhematol.2009.10.006.

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27

Shields, Lisa B. E., Tracey C. Handy, Joseph C. Parker, and Carolyn Burns. "Postmortem Diagnosis of Leukodystrophies." Journal of Forensic Sciences 43, no. 5 (1998): 14359J. http://dx.doi.org/10.1520/jfs14359j.

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28

Bonkowsky, Joshua L., Jacob Wilkes, and David C. Shyr. "Scope and Burden of Non–Standard of Care Hematopoietic Stem Cell Transplantation in Pediatric Leukodystrophy Patients." Journal of Child Neurology 33, no. 14 (2018): 882–87. http://dx.doi.org/10.1177/0883073818798090.

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Inherited leukodystrophies are a group of diseases affecting central nervous system myelin that lead to death or significant health problems. Although for most leukodystrophies there are no curative treatments, for a handful of diseases hematopoietic stem cell transplantation (HSCT; bone marrow transplant) can stop disease progression, and if initiated in a timely fashion, prevent many or all neurologic and other systems involvement. However, HSCT is a complex procedure with significant morbidity and mortality risks. The study goal was to determine whether HSCT was being more widely used outsi

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29

Millichap, J. Gordon. "Molecular Basis of Metachromatic Leukodystrophies." Pediatric Neurology Briefs 5, no. 2 (1991): 13. http://dx.doi.org/10.15844/pedneurbriefs-5-2-7.

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30

Robitaille, Yves. "Hereditary leukodystrophies without identified mutations." Journal of the Neurological Sciences 228, no. 2 (2005): 208–9. http://dx.doi.org/10.1016/j.jns.2004.10.013.

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31

Helman, Guy, Keith Van Haren, Maria L. Escolar, and Adeline Vanderver. "Emerging Treatments for Pediatric Leukodystrophies." Pediatric Clinics of North America 62, no. 3 (2015): 649–66. http://dx.doi.org/10.1016/j.pcl.2015.03.006.

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32

Nakamura, Haruomi. "Pathology of leukodystrophies in childhood." Brain and Development 9, no. 2 (1987): 75. http://dx.doi.org/10.1016/s0387-7604(87)80020-7.

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33

Schiffmann, Raphael. "A welcome introduction to leukodystrophies." Lancet Neurology 10, no. 12 (2011): 1046. http://dx.doi.org/10.1016/s1474-4422(11)70257-5.

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34

Barker, Peter B., and Alena Horská. "Topical Review: Neuroimaging in Leukodystrophies." Journal of Child Neurology 19, no. 8 (2004): 559–70. http://dx.doi.org/10.1177/088307380401900801.

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35

Bonkowsky, Joshua L. "Shedding light on the leukodystrophies." Developmental Medicine & Child Neurology 58, no. 7 (2016): 650–51. http://dx.doi.org/10.1111/dmcn.13019.

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36

Kolníková, Miriam, and Pavol Sýkora. "Leukodystrophies – Clical and Radiological Findings." Česká a slovenská neurologie a neurochirurgie 77/110, no. 5 (2014): 534–52. http://dx.doi.org/10.14735/amcsnn2014534.

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37

Bugiani, Marianna, and Marjolein Breur. "Leukodystrophies due to astroyctic dysfunction." Brain Pathology 28, no. 3 (2018): 369–71. http://dx.doi.org/10.1111/bpa.12607.

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38

Fromer, Margot. "HOPE FOR TREATMENT OF LEUKODYSTROPHIES." Neurology Today 3, no. 1 (2003): 27–28. http://dx.doi.org/10.1097/00132985-200301000-00014.

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39

Kefalas, Maria. "Leukodystrophies: a Patient Advocacy Perspective." Cell and Gene Therapy Insights 4, no. 7 (2018): 705–13. http://dx.doi.org/10.18609/cgti.2018.075.

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40

Kohlschütter, Alfried, and Florian Eichler. "Childhood leukodystrophies: a clinical perspective." Expert Review of Neurotherapeutics 11, no. 10 (2011): 1485–96. http://dx.doi.org/10.1586/ern.11.135.

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41

Guerreiro, Rita, Eleanna Kara, Isabelle Le Ber, et al. "Genetic Analysis of Inherited Leukodystrophies." JAMA Neurology 70, no. 7 (2013): 875. http://dx.doi.org/10.1001/jamaneurol.2013.698.

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42

KOHLSCHÜTTER, ALFRIED. "Evaluating experimental treatment of leukodystrophies." Developmental Medicine & Child Neurology 53, no. 9 (2011): 781. http://dx.doi.org/10.1111/j.1469-8749.2011.04022.x.

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43

Zhang, Jie, Tingting Ban, Ling Zhou, et al. "Epilepsy in children with leukodystrophies." Journal of Neurology 267, no. 9 (2020): 2612–18. http://dx.doi.org/10.1007/s00415-020-09889-y.

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44

Hatten, H. P. "Dysmyelinating leukodystrophies: “LACK Proper Myelin”." Pediatric Radiology 21, no. 7 (1991): 477–82. http://dx.doi.org/10.1007/bf02011716.

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45

Abdelsalam, Eman Muhammad, Germeen Albeir Ashamallah, Mahmoud Abdel Lateef, and Khaled Fathy. "Proton MR Spectroscopy in leukodystrophies." Egyptian Journal of Radiology and Nuclear Medicine 46, no. 4 (2015): 1091–97. http://dx.doi.org/10.1016/j.ejrnm.2015.08.013.

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46

Roosendaal, S. D., T. van de Brug, C. A. P. F. Alves, et al. "Imaging Patterns Characterizing Mitochondrial Leukodystrophies." American Journal of Neuroradiology 42, no. 7 (2021): 1334–40. http://dx.doi.org/10.3174/ajnr.a7097.

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47

Parayil Sankaran, Bindu, Madhu Nagappa, Shwetha Chiplunkar, et al. "Leukodystrophies and Genetic Leukoencephalopathies in Children Specified by Exome Sequencing in an Expanded Gene Panel." Journal of Child Neurology 35, no. 7 (2020): 433–41. http://dx.doi.org/10.1177/0883073820904294.

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The overlapping clinical and neuroimaging phenotypes of leukodystrophies pose a diagnostic challenge to both clinicians and researchers alike. Studies on the application of exome sequencing in the diagnosis of leukodystrophies are emerging. We used targeted gene panel sequencing of 6440 genes to investigate the genetic etiology in a cohort of 50 children with neuroimaging diagnosis of leukodystrophy/genetic leukoencephalopathy of unknown etiology. These 50 patients without a definite biochemical or genetic diagnosis were derived from a cohort of 88 patients seen during a 2.5-year period (2015

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48

Sarret, C. "Leukodystrophies and genetic leukoencephalopathies in children." Revue Neurologique 176, no. 1-2 (2020): 10–19. http://dx.doi.org/10.1016/j.neurol.2019.04.003.

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49

van der Knaap, M. S. "Pathogenesis and molecular biology of leukodystrophies." European Journal of Paediatric Neurology 12 (May 2008): S14. http://dx.doi.org/10.1016/s1090-3798(08)70045-x.

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50

Lindquist, Diana, and Kim Cecil. "Lysosomal and peroxisomal disorders producing leukodystrophies." Journal of Pediatric Neuroradiology 02, no. 01 (2015): 047–55. http://dx.doi.org/10.3233/pnr-13046.

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