Hypomyelinating leukodystrophies: translational research progress and prospects
Standard
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, Jahrgang 76, Nr. 1, 01.07.2014, S. 5-19.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
Harvard
APA
Vancouver
Bibtex
}
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 -