Article

Rapid Progression and Early Mortality in Neonatal-Onset Alexander Disease: Association between Clinical Deterioration, Cranial Ultrasound and Magnetic Resonance Imaging

2025-06-04

Abstract excerpt

<title>Abstract</title> <p><bold>Background</bold> Alexander disease represents a rare genetic leukodystrophy caused by abnormal astrocytic accumulations of intracytoplasmic proteinaceous inclusions with astrocyte dysfunction. With neonatal onset, survival ranges from 1.5 months to more than 7.5 years, with a possible association between the underlying point mutation, the level of protein accumulation in the cere...

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Literature Corpus work: 0a63352e-c9ba-53fc-8f88-25f0e51c8940
DOI: 10.21203/rs.3.rs-6572580/v1

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