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Hypomyelinating leukodystrophies: translational research progress and prospects

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Hypomyelinating leukodystrophies: translational research progress and prospects. / Pouwels, Petra J W; Vanderver, Adeline; Bernard, Genevieve; Wolf, Nicole I; Dreha-Kulczewksi, Steffi F; Deoni, Sean C L; Bertini, Enrico; Kohlschütter, Alfried; Richardson, William; Ffrench-Constant, Charles; Köhler, Wolfgang; Rowitch, David; Barkovich, A James.

In: ANN NEUROL, Vol. 76, No. 1, 01.07.2014, p. 5-19.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Pouwels, PJW, Vanderver, A, Bernard, G, Wolf, NI, Dreha-Kulczewksi, SF, Deoni, SCL, Bertini, E, Kohlschütter, A, Richardson, W, Ffrench-Constant, C, Köhler, W, Rowitch, D & Barkovich, AJ 2014, 'Hypomyelinating leukodystrophies: translational research progress and prospects', ANN NEUROL, vol. 76, no. 1, pp. 5-19. https://doi.org/10.1002/ana.24194

APA

Pouwels, P. J. W., Vanderver, A., Bernard, G., Wolf, N. I., Dreha-Kulczewksi, S. F., Deoni, S. C. L., Bertini, E., Kohlschütter, A., Richardson, W., Ffrench-Constant, C., Köhler, W., Rowitch, D., & Barkovich, A. J. (2014). Hypomyelinating leukodystrophies: translational research progress and prospects. ANN NEUROL, 76(1), 5-19. https://doi.org/10.1002/ana.24194

Vancouver

Pouwels PJW, Vanderver A, Bernard G, Wolf NI, Dreha-Kulczewksi SF, Deoni SCL et al. Hypomyelinating leukodystrophies: translational research progress and prospects. ANN NEUROL. 2014 Jul 1;76(1):5-19. https://doi.org/10.1002/ana.24194

Bibtex

@article{61b2e6fdf539417ca547ff8de51ffe14,
title = "Hypomyelinating leukodystrophies: translational research progress and prospects",
abstract = "Hypomyelinating leukodystrophies represent a genetically heterogeneous but clinically overlapping group of heritable disorders. Current management approaches in the care of the patient with a hypomyelinating leukodystrophy include use of serial magnetic resonance imaging (MRI) to establish and monitor hypomyelination, molecular diagnostics to determine a specific etiology, and equally importantly, careful attention to neurologic complications over time. Emerging research in oligodendrocyte biology and neuroradiology with bedside applications may result in the possibility of clinical trials in the near term, yet there are significant gaps in knowledge in disease classification, characterization, and outcome measures in this group of disorders. Here we review the biological background of myelination, the clinical and genetic variability in hypomyelinating leukodystrophies, and the insights that can be obtained from current MRI techniques. In addition, we discuss ongoing research approaches to define potential outcome markers for future clinical trials.",
keywords = "Hereditary Central Nervous System Demyelinating Diseases, Humans, Magnetic Resonance Imaging, Translational Medical Research",
author = "Pouwels, {Petra J W} and Adeline Vanderver and Genevieve Bernard and Wolf, {Nicole I} and Dreha-Kulczewksi, {Steffi F} and Deoni, {Sean C L} and Enrico Bertini and Alfried Kohlsch{\"u}tter and William Richardson and Charles Ffrench-Constant and Wolfgang K{\"o}hler and David Rowitch and Barkovich, {A James}",
note = "{\textcopyright} 2014 American Neurological Association.",
year = "2014",
month = jul,
day = "1",
doi = "10.1002/ana.24194",
language = "English",
volume = "76",
pages = "5--19",
journal = "ANN NEUROL",
issn = "0364-5134",
publisher = "John Wiley and Sons Inc.",
number = "1",

}

RIS

TY - JOUR

T1 - Hypomyelinating leukodystrophies: translational research progress and prospects

AU - Pouwels, Petra J W

AU - Vanderver, Adeline

AU - Bernard, Genevieve

AU - Wolf, Nicole I

AU - Dreha-Kulczewksi, Steffi F

AU - Deoni, Sean C L

AU - Bertini, Enrico

AU - Kohlschütter, Alfried

AU - Richardson, William

AU - Ffrench-Constant, Charles

AU - Köhler, Wolfgang

AU - Rowitch, David

AU - Barkovich, A James

N1 - © 2014 American Neurological Association.

PY - 2014/7/1

Y1 - 2014/7/1

N2 - Hypomyelinating leukodystrophies represent a genetically heterogeneous but clinically overlapping group of heritable disorders. Current management approaches in the care of the patient with a hypomyelinating leukodystrophy include use of serial magnetic resonance imaging (MRI) to establish and monitor hypomyelination, molecular diagnostics to determine a specific etiology, and equally importantly, careful attention to neurologic complications over time. Emerging research in oligodendrocyte biology and neuroradiology with bedside applications may result in the possibility of clinical trials in the near term, yet there are significant gaps in knowledge in disease classification, characterization, and outcome measures in this group of disorders. Here we review the biological background of myelination, the clinical and genetic variability in hypomyelinating leukodystrophies, and the insights that can be obtained from current MRI techniques. In addition, we discuss ongoing research approaches to define potential outcome markers for future clinical trials.

AB - Hypomyelinating leukodystrophies represent a genetically heterogeneous but clinically overlapping group of heritable disorders. Current management approaches in the care of the patient with a hypomyelinating leukodystrophy include use of serial magnetic resonance imaging (MRI) to establish and monitor hypomyelination, molecular diagnostics to determine a specific etiology, and equally importantly, careful attention to neurologic complications over time. Emerging research in oligodendrocyte biology and neuroradiology with bedside applications may result in the possibility of clinical trials in the near term, yet there are significant gaps in knowledge in disease classification, characterization, and outcome measures in this group of disorders. Here we review the biological background of myelination, the clinical and genetic variability in hypomyelinating leukodystrophies, and the insights that can be obtained from current MRI techniques. In addition, we discuss ongoing research approaches to define potential outcome markers for future clinical trials.

KW - Hereditary Central Nervous System Demyelinating Diseases

KW - Humans

KW - Magnetic Resonance Imaging

KW - Translational Medical Research

U2 - 10.1002/ana.24194

DO - 10.1002/ana.24194

M3 - SCORING: Journal article

C2 - 24916848

VL - 76

SP - 5

EP - 19

JO - ANN NEUROL

JF - ANN NEUROL

SN - 0364-5134

IS - 1

ER -