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Observation
September 2010

POLG1 Variations Presenting as Multiple Sclerosis

Author Affiliations

Author Affiliations: Département de Neurologie, Hôpital Civil, Strasbourg (Drs Echaniz-Languna, de Sèze, and Tranchant); Institut National de la Santé et de la Recherche Médicale (INSERM) U692, Faculté de Médecine, Strasbourg (Dr Echaniz-Laguna); Service des Maladies Héréditaires du Métabolisme, Centre de Biologie et de Pathologie Est, Centre Hospitalier Universitaire (CHU) Lyon, Bron (Drs Chassagne, Clerc-Renaud, and Mousson de Camaret); Département d’Anatomo-pathologie, Hôpital de Hautepierre, Strasbourg (Dr Mohr), France.

Arch Neurol. 2010;67(9):1140-1143. doi:10.1001/archneurol.2010.219
Abstract

Objective  To describe 2 unrelated patients with novel variations in the POLG1 gene and features undistinguishable from multiple sclerosis, ie, optic neuritis, brain white matter hyperintense areas, and unmatched cerebrospinal fluid oligoclonal bands.

Design  Case report.

Setting  University hospital.

Patients  Both patients subsequently developed bilateral ophthalmoplegia, ptosis, myopathy, cardiomyopathy, ataxia, dysphagia, and hearing and cognitive impairment.

Main Outcome Measures  Detailed clinical and laboratory examinations including brain magnetic resonance imaging, morphological analysis of a muscle biopsy, characterization of mitochondrial DNA integrity, sequencing of the POLG1 gene, and screening of control subjects for POLG1 sequence variants.

Results  Ragged red fibers and multiple deletions of mitochondrial DNA were detected in the skeletal muscle. Four compound heterozygous variations, including 3 previously unreported, were identified in POLG1.

Conclusion  Clinicians should be aware of the existence of POLG1-related multiple sclerosis–like illness, as it has important implications for management, treatment, and genetic counseling.

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