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

Marjo S. Van der Knaap, Patrick Van Der Voorn, Frederik Barkhof, Rudy Van Coster, Ingeborg Krägeloh-Mann, Annette Feigenbaum, Susan Blaser, Johan S.H. Vles, Peter Rieckmann, Petra J.W. Pouwels

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We identified eight patients with a distinct magnetic resonance imaging pattern of inhomogeneous cerebral white matter abnormalities and selective involvement of brain-stem 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 languageEnglish
Pages (from-to)252-258
Number of pages7
JournalAnnals of neurology
Issue number2
Publication statusPublished - 1 Feb 2003

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