ArticleNeurology. Genetics2026
Neuropathologic Features of Adult-Onset Progressive Leukodystrophy Due to
Article in Neurology. Genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Objectives: To report the histopathologic features seen in congenital deafness and adult-onset leukoencephalopathy (DEAPLE) caused by biallelic pathogenic variants in Methods: We present the clinical, neuroimaging, and histopathologic findings of a patient with adult-onset, rapidly progressive leukodystrophy. Clinical information, genetic reports, neuroimaging, and postmortem brain pathology were collected and analyzed. Results: Compound heterozygous variants in Discussion: Our findings confirm the previously reported features of DEAPLE and suggest the possibility of a transient neuroinflammatory component associated with areas of active disease.
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