Parkinsonism, cognitive deficit and behavioural disturbance caused by a novel mutation in the polymerase gamma gene

Journal of the Neurological Sciences
Manuel Delgado-AlvaradoMaría Cruz Rodríguez-Oroz

Abstract

Polymerase γ (POLG) is the enzyme responsible for the replication and maintenance of mitochondrial DNA (mtDNA). Mutations in the POLG1 gene can lead to mitochondrial dysfunction, producing a wide range of neurological and non-neurological phenotypes. Neurological manifestations include ataxia, muscular weakness, epilepsy, progressive external ophthalmoplegia (PEO), ptosis, neuropathy, psychiatric disorders and, more rarely, parkinsonism. We present the case of an 80-year old female patient with a history of PEO, ptosis, childish behaviour, obsessive disorder, cognitive decline, and parkinsonism. A comprehensive study showed striatal dopamine deficiency on DaT Scan and ragged red fibres as evidenced by Gomori staining in a biopsy of the biceps brachii. Multiple deletions of mtDNA were detected, and sequencing of the POLG1 gene identified a novel substitution, 2834A>T, in exon 18, changing the p.His945Leu amino acid. In silico analysis using PolyPhen-2 (http://genetics.bwh.hardvard.edu/pph2/) predicted that this change is probably damaging, with a score of 1.0 (0-1).

References

Apr 25, 2006·Annals of Neurology·Guido DavidzonSalvatore DiMauro
Apr 28, 2006·Brain : a Journal of Neurology·Charalampos TzoulisLaurence A Bindoff
Mar 7, 2008·Parkinsonism & Related Disorders·A M RemesK Majamaa
Jun 24, 2008·Journal of the Neurological Sciences·Josef Finsterer
Feb 4, 2009·Neuropathology and Applied Neurobiology·J Betts-HendersonD M Turnbull
Dec 10, 2009·Movement Disorders : Official Journal of the Movement Disorder Society·Matthis SynofzikDaniela Berg
Jun 15, 2011·Archives of Neurology·Margherita MiloneLee-Jun Wong
Feb 16, 2012·Muscle & Nerve·Juliana Gurgel-GiannettiSalvatore DiMauro
May 16, 2013·Parkinsonism & Related Disorders·Masako MukaiShiro Matsubara
Jun 28, 2013·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Amy ReeveDoug Turnbull
Oct 9, 2013·BMC Medical Genetics·Monica Bandettini di PoggioFilippo M Santorelli
Apr 30, 2014·Archives of Clinical Neuropsychology : the Official Journal of the National Academy of Neuropsychologists·Gabriella Inczedy-FarkasMaria Judit Molnar

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Citations

Aug 8, 2015·International Journal of Molecular Sciences·Naghia AhmedGiacomo Pietro Comi
Jun 9, 2016·Acta Neurologica Scandinavica·M Ferreira, J Massano
Aug 16, 2015·Journal of Child Neurology·Josef FinstererAlejandra Daruich

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