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Article

Leukoencephalopathy with vanishing white matter: from magnetic resonance imaging pattern to five genes.

Journal of child neurology - 1 Sept 2003

Leegwater Peter A J, Pronk Jan C, van der Knaap Marjo S

Abstract excerpt

Leukoencephalopathy with vanishing white matter can be diagnosed on the basis of distinct clinical and magnetic resonance imaging (MRI) findings. It is a recessively inherited disorder, most often presenting in young children. The clinical symptoms include a slowly progressive cerebellar ataxia, spasticity, variable optic atrophy, and relatively preserved mental capacities. In addition, there are episodes of...

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PMID: 14572143
DOI: 10.1177/08830738030180091101

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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