Early-onset familial parkinsonism due to POLG mutations
Article first published online: 21 APR 2006
Copyright © 2006 American Neurological Association
Annals of Neurology
Volume 59, Issue 5, pages 859–862, May 2006
How to Cite
Davidzon, G., Greene, P., Mancuso, M., Klos, K. J., Ahlskog, J. E., Hirano, M. and DiMauro, S. (2006), Early-onset familial parkinsonism due to POLG mutations. Ann Neurol., 59: 859–862. doi: 10.1002/ana.20831
- Issue published online: 21 APR 2006
- Article first published online: 21 APR 2006
- Manuscript Accepted: 10 FEB 2006
- Manuscript Revised: 1 FEB 2006
- Manuscript Received: 21 DEC 2005
- NIH (National Institute for Neurological Disorders and Stroke, National Institute of Child Health and Development). Grant Numbers: NS11766, HD32062
- Muscular Dystrophy Association
- Marriott Mitochondrial Disorder Clinical Research Fund
To define the molecular etiology of early-onset parkinsonism and peripheral neuropathy.
Two sisters had early-onset parkinsonism (dystonic toe curling, action tremor, masked face, bradykinesia, stooped posture, and rigidity), together with clinical and electrophysiological signs of sensorimotor axonal peripheral neuropathy.
No mutations were found in the genes for parkin or PINK1. Muscle biopsies showed ragged-red and cytochrome c oxidase–negative fibers, and biochemistry showed decreased activities of respiratory chain complexes containing mitochondrial DNA–encoded subunits. Multiple mitochondrial DNA deletions were seen by long polymerase chain reaction, and sequencing of the POLG gene showed that the patients were compound heterozygous for two patogenic mutations.
POLG mutations can cause early-onset parkinsonism in the absence of progressive external ophthalmoplegia. Ann Neurol 2006;59:859–862