ReviewNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2026
LAMB1-related adult-onset leukoencephalopathy presenting with cognitive decline: diagnostic workup and review of the literature.
Review in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 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
Leukoencephalopathies encompass a heterogeneous group of acquired and genetic white matter disorders with variable clinical presentations. We report a case of adult-onset leukoencephalopathy caused by a heterozygous frameshift LAMB1 deletion in a 65-year-old woman presenting with progressive cognitive decline, mood changes, and migraine. Whole-exome sequencing identified a likely pathogenic variant, enabling a diagnosis after extensive metabolic and genetic workup. This case highlights the importance of considering LAMB1 variants in unexplained adult-onset leukoencephalopathies associated with cognitive decline.
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