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- Title
A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate.
- Authors
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
- 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.
- Publication
Annals of Neurology, 2003, Vol 53, Issue 2, p252
- ISSN
0364-5134
- Publication type
Article