A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate

M.S. van der Knaap; P. van der Voorn; F. Barkhof; R. van Coster; I. Krageloh-Mann; A. Feigenbaum; S. Blaser; J.S.H. Vles; P. Rieckmann; P.J. Pouwels

doi:10.1002/ana.10456

A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate

M.S. van der Knaap^*, P. van der Voorn, F. Barkhof, R. van Coster, I. Krageloh-Mann, A. Feigenbaum, S. Blaser, J.S.H. Vles, P. Rieckmann, P.J. Pouwels

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

Abstract

A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate.

van der Knaap MS, van der Voorn P, Barkhof F, Van Coster R, Krageloh-Mann I, Feigenbaum A, Blaser S, Vles JS, Rieckmann P, Pouwels PJ.

Department of Child Neurology, Free University Medical Center, Amsterdam, The Netherlands. ms.vanderknaap@vumc.nl

We identified eight patients with a distinct magnetic resonance imaging pattern of inhomogeneous cerebral white matter abnormalities and selective involvement of brainstem and spinal tracts. Proton magnetic resonance imaging showed increased lactate in the abnormal white matter. Clinically, the patients had slowly progressive pyramidal, cerebellar, and dorsal column dysfunction. The uniform, highly characteristic magnetic resonance imaging pattern and the similarities in clinical and magnetic resonance spectroscopy findings provide evidence for a new disease entity. Autosomal recessive inheritance is likely

Original language	English
Pages (from-to)	252-258
Number of pages	6
Journal	Annals of Neurology
Volume	53
Issue number	2
DOIs	https://doi.org/10.1002/ana.10456
Publication status	Published - 1 Jan 2003

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10.1002/ana.10456

Cite this

@article{8b86570f72ac4d0591696e793eca3f0e,

title = "A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate",

abstract = "A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate.van der Knaap MS, van der Voorn P, Barkhof F, Van Coster R, Krageloh-Mann I, Feigenbaum A, Blaser S, Vles JS, Rieckmann P, Pouwels PJ.Department of Child Neurology, Free University Medical Center, Amsterdam, The Netherlands. ms.vanderknaap@vumc.nlWe identified eight patients with a distinct magnetic resonance imaging pattern of inhomogeneous cerebral white matter abnormalities and selective involvement of brainstem and spinal tracts. Proton magnetic resonance imaging showed increased lactate in the abnormal white matter. Clinically, the patients had slowly progressive pyramidal, cerebellar, and dorsal column dysfunction. The uniform, highly characteristic magnetic resonance imaging pattern and the similarities in clinical and magnetic resonance spectroscopy findings provide evidence for a new disease entity. Autosomal recessive inheritance is likely",

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T1 - A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate

AU - van der Knaap, M.S.

AU - van der Voorn, P.

AU - Barkhof, F.

AU - van Coster, R.

AU - Krageloh-Mann, I.

AU - Feigenbaum, A.

AU - Blaser, S.

AU - Vles, J.S.H.

AU - Rieckmann, P.

AU - Pouwels, P.J.

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N2 - A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate.van der Knaap MS, van der Voorn P, Barkhof F, Van Coster R, Krageloh-Mann I, Feigenbaum A, Blaser S, Vles JS, Rieckmann P, Pouwels PJ.Department of Child Neurology, Free University Medical Center, Amsterdam, The Netherlands. ms.vanderknaap@vumc.nlWe identified eight patients with a distinct magnetic resonance imaging pattern of inhomogeneous cerebral white matter abnormalities and selective involvement of brainstem and spinal tracts. Proton magnetic resonance imaging showed increased lactate in the abnormal white matter. Clinically, the patients had slowly progressive pyramidal, cerebellar, and dorsal column dysfunction. The uniform, highly characteristic magnetic resonance imaging pattern and the similarities in clinical and magnetic resonance spectroscopy findings provide evidence for a new disease entity. Autosomal recessive inheritance is likely

AB - A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate.van der Knaap MS, van der Voorn P, Barkhof F, Van Coster R, Krageloh-Mann I, Feigenbaum A, Blaser S, Vles JS, Rieckmann P, Pouwels PJ.Department of Child Neurology, Free University Medical Center, Amsterdam, The Netherlands. ms.vanderknaap@vumc.nlWe identified eight patients with a distinct magnetic resonance imaging pattern of inhomogeneous cerebral white matter abnormalities and selective involvement of brainstem and spinal tracts. Proton magnetic resonance imaging showed increased lactate in the abnormal white matter. Clinically, the patients had slowly progressive pyramidal, cerebellar, and dorsal column dysfunction. The uniform, highly characteristic magnetic resonance imaging pattern and the similarities in clinical and magnetic resonance spectroscopy findings provide evidence for a new disease entity. Autosomal recessive inheritance is likely

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DO - 10.1002/ana.10456

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