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Neurology. 2005 Nov 8;65(9):1493-5. Epub 2005 Sep 21.

POLG mutations in Alpers syndrome.

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  • 1Mitochondrial and Metabolic Disease Center, Department of Medicine, University of California, San Diego, CA, USA.


Described are six patients with Alpers syndrome from four unrelated families. Affected individuals harbored the following combinations of POLG mutations: 1) A467T/W1020X, 2) W748S-E1143G/G848S, 3) A467T/A467T, and 4) A467T/G848S. Homozygosity for the A467T allele in one patient was associated with a later age at onset. Mitochondrial respiratory chain studies in skeletal muscle were normal in each case. Nine combinations of mutant POLG alleles that cause Alpers syndrome are summarized.

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