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Updated: Jun 12, 2026

Modeling Age-Associated Neurodegenerative Diseases in Caenorhabditis elegans
Published on: August 15, 2020
Autosomal dominant acute necrotising encephalopathy: a case report with possible disease-expression modification by
Clare Gilson1, Robert McFarland, Rob Forsyth
1Institute of Neuroscience, Newcastle University, Newcastle NE1 7RU, UK.
Abstract:
We report the case of a 5-year old girl with autosomal dominant acute necrotising encephalopathy (ADANE), who presented with encephalopathy, seizures and coma following a short febrile illness. MR imaging demonstrated characteristic symmetrical, T2 hyper-intense changes involving the external capsule, thalami, brainstem and cerebellum. Unique to this case was co-existing previously unrecognized homocysteinuria due to cystathionine-β-synthase (CBS) deficiency. We discuss metabolic hypotheses of the pathophysiology of ADANE and suggest that the concurrent homocysteinuria may have contributed to the severe phenotype seen in this child, who has been left with profound neurological deficits.
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