Alpers syndrome
Evidence-based neurology checklist on alpers syndrome: Genetics This is caused by mutations in the mitochondrial DNA polymerase gamma (POLG) gene The transmission is autosomal recessive The first onset age peak is between 2-4 years The second onset age peak is between 17-24 years Diagnostic triad…
Genetics
- This is caused by mutations in the mitochondrial DNA polymerase gamma (POLG) gene
- The transmission is autosomal recessive
- The first onset age peak is between 2-4 years
- The second onset age peak is between 17-24 years
Diagnostic triad
Other features
Features of seizures
Cerebrospinal fluid (CSF) analysis
Electroencephalogram (EEG): features
Magnetic resonance imaging (MRI): features
Treatment
Synonym
References
- Engelsen BA, Tzoulis C, Karlsen B, et al. POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection. Brain 2008; 131:818-828.
- Naviaux RK, Nguyen KV. POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. Ann Neurol 2004; 55:706-712.
- Saneto RP, Cohen BH, Copeland WC, Naviaux RK. Alpers-Huttenlocher syndrome. Pediatr Neurol 2013; 48:167-178.
- Park S, Kang HC, Lee JS, Park YN, Kim S, Koh H. Alpers-Huttenlocher syndrome first presented with hepatic failure: can liver transplantation be considered as treatment option? Pediatr Gastroenterol Hepatol Nutr 2017; 20:259-262.
- Spiegler J, Stefanova I, Hellenbroich Y, Sperner J. Bowel obstruction in patients with Alpers-Huttenlocher syndrome. Neuropediatrics 2011; 42:194-196.
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