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

Juvenile Alpers disease.

Author information

1
Department of Pediatrics and Child Health, Wellington School of Medicine and Health Sciences, University of Otago, Wellington, New Zealand.

Abstract

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.

PMID:
18195149
DOI:
10.1001/archneurol.2007.14
[Indexed for MEDLINE]

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