Research ExplorerPublicationsChildhood leukodystrophies: a clinical perspective.

Childhood leukodystrophies: a clinical perspective.

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Childhood leukodystrophies: a clinical perspective. / Kohlschütter, Alfried; Eichler, Florian.

In: EXPERT REV NEUROTHER, Vol. 11, No. 10, 10, 2011, p. 1485-1496.

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

Harvard

Kohlschütter, A & Eichler, F 2011, 'Childhood leukodystrophies: a clinical perspective.', EXPERT REV NEUROTHER, vol. 11, no. 10, 10, pp. 1485-1496. <http://www.ncbi.nlm.nih.gov/pubmed/21955203?dopt=Citation>

APA

Kohlschütter, A., & Eichler, F. (2011). Childhood leukodystrophies: a clinical perspective. EXPERT REV NEUROTHER, 11(10), 1485-1496. [10]. http://www.ncbi.nlm.nih.gov/pubmed/21955203?dopt=Citation

Vancouver

Kohlschütter A, Eichler F. Childhood leukodystrophies: a clinical perspective. EXPERT REV NEUROTHER. 2011;11(10):1485-1496. 10.

Bibtex

@article{3c8fb2f443f2406a8c6d5c4f216314d7,
title = "Childhood leukodystrophies: a clinical perspective.",
abstract = "Leukodystrophies are white matter disorders that are genetic in nature. In the young, they represent an important cause of progressive neurological disability. They are frequently recognized on MRI, but their identification remains a challenge. Their diagnosis is important for prognostication, palliative and experimental treatment, as well as family screening. The diagnostic strategy rests upon clinical clues and MRI patterns, complemented by appropriately selected electrophysiological and laboratory testing. Considerable overlap exists between white and gray matter disease, as neuronal degeneration will result in myelin loss. An understanding of the pathophysiology and natural disease evolution is necessary to understand the risks and benefits of experimental and palliative treatments.",
keywords = "Humans, Child, Infant, Magnetic Resonance Imaging, Infant, Newborn, Leukodystrophy, Globoid Cell/*diagnosis/pathology/physiopathology/therapy, Leukodystrophy, Metachromatic/*diagnosis/pathology/physiopathology/therapy, Nerve Fibers, Myelinated/*pathology, Neurodegenerative Diseases/*diagnosis/pathology/physiopathology/therapy, Humans, Child, Infant, Magnetic Resonance Imaging, Infant, Newborn, Leukodystrophy, Globoid Cell/*diagnosis/pathology/physiopathology/therapy, Leukodystrophy, Metachromatic/*diagnosis/pathology/physiopathology/therapy, Nerve Fibers, Myelinated/*pathology, Neurodegenerative Diseases/*diagnosis/pathology/physiopathology/therapy",
author = "Alfried Kohlsch{\"u}tter and Florian Eichler",
year = "2011",
language = "English",
volume = "11",
pages = "1485--1496",
journal = "EXPERT REV NEUROTHER",
issn = "1473-7175",
publisher = "Taylor and Francis Ltd.",
number = "10",

}

RIS

TY - JOUR

T1 - Childhood leukodystrophies: a clinical perspective.

AU - Kohlschütter, Alfried

AU - Eichler, Florian

PY - 2011

Y1 - 2011

N2 - Leukodystrophies are white matter disorders that are genetic in nature. In the young, they represent an important cause of progressive neurological disability. They are frequently recognized on MRI, but their identification remains a challenge. Their diagnosis is important for prognostication, palliative and experimental treatment, as well as family screening. The diagnostic strategy rests upon clinical clues and MRI patterns, complemented by appropriately selected electrophysiological and laboratory testing. Considerable overlap exists between white and gray matter disease, as neuronal degeneration will result in myelin loss. An understanding of the pathophysiology and natural disease evolution is necessary to understand the risks and benefits of experimental and palliative treatments.

AB - Leukodystrophies are white matter disorders that are genetic in nature. In the young, they represent an important cause of progressive neurological disability. They are frequently recognized on MRI, but their identification remains a challenge. Their diagnosis is important for prognostication, palliative and experimental treatment, as well as family screening. The diagnostic strategy rests upon clinical clues and MRI patterns, complemented by appropriately selected electrophysiological and laboratory testing. Considerable overlap exists between white and gray matter disease, as neuronal degeneration will result in myelin loss. An understanding of the pathophysiology and natural disease evolution is necessary to understand the risks and benefits of experimental and palliative treatments.

KW - Humans

KW - Child

KW - Infant

KW - Magnetic Resonance Imaging

KW - Infant, Newborn

KW - Leukodystrophy, Globoid Cell/diagnosis/pathology/physiopathology/therapy

KW - Leukodystrophy, Metachromatic/diagnosis/pathology/physiopathology/therapy

KW - Nerve Fibers, Myelinated/pathology

KW - Neurodegenerative Diseases/diagnosis/pathology/physiopathology/therapy

KW - Humans

KW - Child

KW - Infant

KW - Magnetic Resonance Imaging

KW - Infant, Newborn

KW - Leukodystrophy, Globoid Cell/diagnosis/pathology/physiopathology/therapy

KW - Leukodystrophy, Metachromatic/diagnosis/pathology/physiopathology/therapy

KW - Nerve Fibers, Myelinated/pathology

KW - Neurodegenerative Diseases/diagnosis/pathology/physiopathology/therapy

M3 - SCORING: Journal article

VL - 11

SP - 1485

EP - 1496

JO - EXPERT REV NEUROTHER

JF - EXPERT REV NEUROTHER

SN - 1473-7175

IS - 10

M1 - 10

ER -