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

Steffi F. Dreha-Kulaczewski; Robert Steinfeld; Knut Brockmann; Peter Dechent; Jutta Gärtner; Gunther Helms

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

Steffi F. Dreha-Kulaczewski, Robert Steinfeld, Knut Brockmann, Peter Dechent, Jutta Gärtner, Gunther Helms

University Medical Center Göttingen

Research output: Contribution to journal › Published meeting abstract › peer-review

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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.

Original language	English
Pages (from-to)	1080
Journal	Proceedings of the International Society for Magnetic Resonance in Medicine
Volume	21
Publication status	Published - 2013 Apr
Externally published	Yes

Subject classification (UKÄ)

Radiology, Nuclear Medicine and Medical Imaging

Free keywords

folate deficiency

Access to Document

ISMRM13-1080

Cite this

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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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Therapy Effects in Cerebral Folate Transport Deficiency with Hypomyelination Monitored by Multimodal Quantitative MR-Imaging. / Dreha-Kulaczewski, Steffi F.; Steinfeld, Robert; Brockmann, Knut et al.
In: Proceedings of the International Society for Magnetic Resonance in Medicine, Vol. 21, 04.2013, p. 1080.

Research output: Contribution to journal › Published meeting abstract › peer-review

TY - JOUR

T1 - Therapy Effects in Cerebral Folate Transport Deficiency with Hypomyelination Monitored by Multimodal Quantitative MR-Imaging

AU - Dreha-Kulaczewski, Steffi F.

AU - Steinfeld, Robert

AU - Brockmann, Knut

AU - Dechent, Peter

AU - Gärtner, Jutta

AU - Helms, Gunther

PY - 2013/4

Y1 - 2013/4

N2 - 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.

AB - 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.

KW - folate deficiency

UR - http://cds.ismrm.org/protected/13MProceedings/files/TOC.htm

M3 - Published meeting abstract

SN - 1524-6965

VL - 21

SP - 1080

JO - Proceedings of the International Society for Magnetic Resonance in Medicine

JF - Proceedings of the International Society for Magnetic Resonance in Medicine

ER -