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Therapy Effects in Cerebral Folate Transport Deficiency with Hypomyelination Monitored by Multimodal Quantitative MR-Imaging

Dreha-Kulaczewski, Steffi F.; Steinfeld, Robert; Brockmann, Knut; Dechent, Peter; Gärtner, Jutta and Helms, Gunther LU (2013) In Proceedings of the International Society for Magnetic Resonance in Medicine 21. p.1080-1080
Abstract
Myelin-sensitive quantitative (q) MRI techniques including MT (3D FLASH) and DTI (single-shot STEAM) are of growing importance to study white matter (WM) disorders in childhood. Cerebral folate transport deficiency is an inherited, treatable WM disorder with hypomyelination, developmental regression, movement disturbances, and epilepsy. One patient with this diagnosis and severe phenotype was treated with folinic acid. Concomitant serial qMRI study over 4.2 yrs indicated an advancement of myelination which was paralleled by clinical improvement. In contrast to structural MRI, MT saturation maps demonstrated striking contrast changes and detailed spatial resolution. It may provide a valuable parameter to monitor therapy effects.
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author
publishing date
type
Contribution to journal
publication status
published
subject
keywords
folate deficiency
in
Proceedings of the International Society for Magnetic Resonance in Medicine
volume
21
pages
1080 - 1080
publisher
International Society for Magnetic Resonance in Medicine
ISSN
1524-6965
language
English
LU publication?
no
id
92c3f4a9-db7a-4865-89f4-235e5be2e577
date added to LUP
2017-01-20 14:37:16
date last changed
2018-05-29 10:31:54
@misc{92c3f4a9-db7a-4865-89f4-235e5be2e577,
  abstract     = {Myelin-sensitive quantitative (q) MRI techniques including MT (3D FLASH) and DTI (single-shot STEAM) are of growing importance to study white matter (WM) disorders in childhood. Cerebral folate transport deficiency is an inherited, treatable WM disorder with hypomyelination, developmental regression, movement disturbances, and epilepsy. One patient with this diagnosis and severe phenotype was treated with folinic acid. Concomitant serial qMRI study over 4.2 yrs indicated an advancement of myelination which was paralleled by clinical improvement. In contrast to structural MRI, MT saturation maps demonstrated striking contrast changes and detailed spatial resolution. It may provide a valuable parameter to monitor therapy effects.},
  author       = {Dreha-Kulaczewski, Steffi F. and Steinfeld, Robert and Brockmann, Knut and Dechent, Peter and Gärtner, Jutta and Helms, Gunther},
  issn         = {1524-6965},
  keyword      = {folate deficiency},
  language     = {eng},
  note         = {Conference Abstract},
  pages        = {1080--1080},
  publisher    = {International Society for Magnetic Resonance in Medicine},
  series       = {Proceedings of the International Society for Magnetic Resonance in Medicine},
  title        = {Therapy Effects in Cerebral Folate Transport Deficiency with Hypomyelination Monitored by  Multimodal Quantitative MR-Imaging},
  volume       = {21},
  year         = {2013},
}