Acute necrotizing encephalopathy (ANE1): clinical features

Genetics

• This is usually caused by missense mutations in the RANBP2 (Ran-binding protein 2) gene
• The gene is on chromosome 2q
• The transmission is autosomal dominant
• There is incomplete penetrance in about 40% of cases
• The mutation is absent in some cases
• Some cases arise de novo
• RNH1 gene mutations have also been reported in a subtype of ANE

References

1. Wolf K, Schmitt-Mechelke T, Kollias S, Curt A. Acute necrotizing encephalopathy (ANE1): rare autosomal-dominant disorder presenting as acute transverse myelitis. J Neurol 2013; 260:1545-1553.
2. Neilson DE, Adams MD, Orr CM, et al. Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2. Am J Hum Genet 2009; 84:44-51.
3. Nishimura N, Higuchi Y, Kimura N, et al. Familial acute necrotizing encephalopathy without RANBP2 mutation: Poor outcome. Pediatr Int 2016; 58:1215-1218.
4. Shashi V, Schoch K, Ganetzky R, et al. Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy. Genet Med 2023; 25:100897.
5. Gika AD, Rich P, Gupta S, Neilson DE, Clarke A. Recurrent acute necrotizing encephalopathy following influenza A in a genetically predisposed family. Dev Med Child Neurol 2010; 52:99-102.
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Related checklists

• Acute necrotizing encephalopathy (ANE1): management
• Multifocal necrotizing leukoencephalopathy (MNL)