title: A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate.
abstract: 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.
authors.affiliation: Department of Child Neurology, Free University Medical Center, Amsterdam, The Netherlands. ms.vanderknaap@vumc.nl
authors.forename: Marjo S
authors.initials: MS
authors.lastname: van der Knaap
authors.forename: Patrick
authors.initials: P
authors.lastname: van der Voorn
authors.forename: Frederik
authors.initials: F
authors.lastname: Barkhof
authors.forename: Rudy
authors.initials: R
authors.lastname: Van Coster
authors.forename: Ingeborg
authors.initials: I
authors.lastname: Krägeloh-Mann
authors.forename: Annette
authors.initials: A
authors.lastname: Feigenbaum
authors.forename: Susan
authors.initials: S
authors.lastname: Blaser
authors.forename: Johan S H
authors.initials: JS
authors.lastname: Vles
authors.forename: Peter
authors.initials: P
authors.lastname: Rieckmann
authors.forename: Petra J W
authors.initials: PJ
authors.lastname: Pouwels
mesh_terms: D000293:Adolescent; D000328:Adult; D001927:Brain Diseases / Q000145:classification / Q000473:pathology*; D001933:Brain Stem / Q000737:chemistry / Q000473:pathology*; D002648:Child; D005260:Female; D006801:Humans; D019344:Lactic Acid / Q000032:analysis*; D008279:Magnetic Resonance Imaging; D008297:Male; D009412:Nerve Fibers / Q000473:pathology; D013116:Spinal Cord / Q000737:chemistry / Q000473:pathology*
chemical_list: D019344:Lactic Acid