Juvenile Alpers disease

Arch Neurol. 2008 Jan;65(1):121-4. doi: 10.1001/archneurol.2007.14.


Background: Alpers disease is commonly associated with polymerase gamma deficiency and usually affects infants or young children.

Objective: To report a juvenile case of Alpers disease due to mutations in the polymerase gamma gene (POLG1).

Design: Clinical, pathologic, biochemical, and molecular analysis.

Setting: Tertiary care university hospital and academic institutions.

Patient: A 17-year-old adolescent girl with intractable epilepsy and liver disease.

Main outcome measures: Clinical course and pathologic, biochemical, and molecular features.

Results: Biochemical and pathologic evidence suggested a respiratory chain defect, which was confirmed by enzyme analysis of the liver. Mutational analysis of POLG1 showed 2 novel mutations: T851A and R1047W.

Conclusion: The POLG1 mutations can cause juvenile and childhood Alpers disease.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Anticonvulsants / therapeutic use
  • Brain / pathology
  • DNA Mutational Analysis
  • DNA Polymerase gamma
  • DNA-Directed DNA Polymerase / genetics*
  • Diffuse Cerebral Sclerosis of Schilder / genetics*
  • Diffuse Cerebral Sclerosis of Schilder / pathology
  • Diffuse Cerebral Sclerosis of Schilder / therapy
  • Drug Resistance
  • Electroencephalography
  • Electron Transport / genetics
  • Electron Transport / physiology
  • Exons / genetics
  • Family
  • Female
  • Heterozygote
  • Humans
  • Liver Diseases / genetics
  • Liver Diseases / pathology
  • Magnetic Resonance Imaging
  • Mutation
  • Seizures / etiology
  • Seizures / pathology


  • Anticonvulsants
  • DNA Polymerase gamma
  • DNA-Directed DNA Polymerase
  • POLG protein, human