TY - JOUR
T1 - Leukodystrophies Five new things
T2 - Five new things
AU - van der Knaap, Marjo S.
AU - Wolf, Nicole I.
AU - Heine, Vivi M.
PY - 2016/12/1
Y1 - 2016/12/1
N2 - Purpose of review: Leukodystrophies are genetic disorders primarily and predominantly affecting CNS white matter. They are associated with connotations such as "much unknown," "progressive myelin loss," and "nothing can be done." Recent technological progress is reversing this picture. Recent findings: Next-generation sequencing has created the revolution of whole-exome/genome sequencing, allowing disease definition and gene identification for numerous ultra-rare disorders by focusing on very small groups and individual patients. Knowledge of many new "white matter proteins" is transforming our understanding of white matter physiology and pathophysiology. Regarding therapy, especially stem cell and gene therapy are evolving rapidly, aiming at personalized therapy for a specific patient with a specific disease. Multimodal approaches targeting multiple aspects of the disease hold the highest promise. Summary: Technological developments are revolutionizing the leukodystrophy field. Unknown becomes known and untreatable becomes treatable. New insight is that not all leukodystrophies are irreversible and that some improve spontaneously
AB - Purpose of review: Leukodystrophies are genetic disorders primarily and predominantly affecting CNS white matter. They are associated with connotations such as "much unknown," "progressive myelin loss," and "nothing can be done." Recent technological progress is reversing this picture. Recent findings: Next-generation sequencing has created the revolution of whole-exome/genome sequencing, allowing disease definition and gene identification for numerous ultra-rare disorders by focusing on very small groups and individual patients. Knowledge of many new "white matter proteins" is transforming our understanding of white matter physiology and pathophysiology. Regarding therapy, especially stem cell and gene therapy are evolving rapidly, aiming at personalized therapy for a specific patient with a specific disease. Multimodal approaches targeting multiple aspects of the disease hold the highest promise. Summary: Technological developments are revolutionizing the leukodystrophy field. Unknown becomes known and untreatable becomes treatable. New insight is that not all leukodystrophies are irreversible and that some improve spontaneously
UR - http://www.scopus.com/inward/record.url?scp=85006098425&partnerID=8YFLogxK
U2 - https://doi.org/10.1212/CPJ.0000000000000289
DO - https://doi.org/10.1212/CPJ.0000000000000289
M3 - Review article
C2 - 29849248
SN - 2163-0402
VL - 6
SP - 506
EP - 514
JO - Neurology. Clinical Practice
JF - Neurology. Clinical Practice
IS - 6
ER -