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Arch Neurol. 2008 Jan;65(1):133-6. doi: 10.1001/archneurol.2007.4.

POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth disease.

Author information

1
Department of Neurology, Essex Center for Neurological Sciences, Queen's Hospital, Romford, England.

Abstract

BACKGROUND:

Although a molecular diagnosis is possible in most patients having Charcot-Marie-Tooth disease (CMT), recessively inherited and axonal neuropathies still present a diagnostic challenge.

OBJECTIVE:

To determine the cause of axonal CMT type 2 in 3 siblings.

DESIGN:

Case report.

SETTING:

Academic research.

PARTICIPANTS:

Three siblings who subsequently developed profound cerebellar ataxia.

MAIN OUTCOME MEASURES:

Muscle biopsy specimen molecular genetic analysis of the POLG1 (polymerase gamma-1) gene, as well as screening of control subjects for POLG1 sequence variants.

RESULTS:

Cytochrome c oxidase deficient fibers and multiple deletions of mitochondrial DNA were detected in skeletal muscle. Three compound heterozygous substitutions were detected in POLG1.

CONCLUSION:

Even in the absence of classic features of mitochondrial disease, POLG1 should be considered in patients having axonal CMT that may be associated with tremor or ataxia.

PMID:
18195151
DOI:
10.1001/archneurol.2007.4
[Indexed for MEDLINE]

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