Clinical and genetic characterization of leukoencephalopathies in adults.

doi:10.1093/brain/awx045

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Article

Clinical and genetic characterization of leukoencephalopathies in adults.

Brain : a journal of neurology - 1 May 2017

Lynch David S, Rodrigues Brandão de Paiva Anderson, Zhang Wei Jia, Bugiardini Enrico, Freua Fernando, Tavares Lucato Leandro, Macedo-Souza Lucia Inês, Lakshmanan Rahul, Kinsella Justin A, Merwick Aine, Rossor Alexander M, Bajaj Nin, Herron Brian, McMonagle Paul, Morrison Patrick J, Hughes Deborah, Pittman Alan, Laurà Matilde, Reilly Mary M, Warren Jason D, Mummery Catherine J, Schott Jonathan M, Adams Matthew, Fox Nick C, Murphy Elaine, Davagnanam Indran, Kok Fernando, Chataway Jeremy, Houlden Henry

Abstract excerpt

Leukodystrophies and genetic leukoencephalopathies are a rare group of disorders leading to progressive degeneration of cerebral white matter. They are associated with a spectrum of clinical phenotypes dominated by dementia, psychiatric changes, movement disorders and upper motor neuron signs. Mutations in at least 60 genes can lead to leukoencephalopathy with often overlapping clinical and radiological...

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Identifiers

PMID: 28334938
DOI: 10.1093/brain/awx045
PMCID: PMC5405235

Genes

AARS2
NOTCH3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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