Early-onset familial parkinsonism due to POLG mutations

Annals of Neurology
Guido DavidzonSalvatore DiMauro

Abstract

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.

References

Oct 1, 1987·Annals of Neurology·S DiMauroS D Johnsen
Jan 1, 1996·Methods in Enzymology·M Sciacco, E Bonilla
Sep 28, 1998·Annals of Neurology·Y MizunoT Kondo
Aug 6, 2000·Movement Disorders : Official Journal of the Movement Disorder Society·M ShibaW A Rocca
Sep 17, 2003·Archives of Neurology·Massimiliano FilostoSalvatore DiMauro
Mar 17, 2004·Neuromuscular Disorders : NMD·Stacey K H TaySalvatore DiMauro
Apr 17, 2004·Science·Enza Maria ValenteNicholas W Wood
Nov 10, 2004·Archives of Neurology·Michelangelo MancusoSalvatore DiMauro
May 26, 2005·Gene·Matthew J LongleyWilliam C Copeland
Jun 1, 2005·Gene·Antonella Spinazzola, Massimo Zeviani
Sep 24, 2005·Annals of Neurology·M Flint Beal

❮ Previous
Next ❯

Citations

Oct 12, 2010·Cellular and Molecular Life Sciences : CMLS·Jeffrey D Stumpf, William C Copeland
May 24, 2011·Journal of Neurology·Massimiliano FilostoAlessandro Padovani
Jul 8, 2011·Human Genetics·Germaine EscamesDarío Acuña-Castroviejo
Sep 24, 2008·Journal of Neural Transmission·Katarzyna Gaweda-WalerychCezary Zekanowski
Sep 5, 2009·Journal of Inherited Metabolic Disease·A García-CazorlaG F Hoffmann
Jun 19, 2013·Current Neurology and Neuroscience Reports·Susan L CotmanKatherine B Sims
Jan 12, 2011·Journal of Molecular Neuroscience : MN·Daniele OrsucciGabriele Siciliano
Jul 25, 2009·Journal of Human Genetics·Keshav K SinghMarija Vujcic
May 30, 2009·The Journal of Biological Chemistry·Rajesh KasiviswanathanWilliam C Copeland
Apr 30, 2013·Brain : a Journal of Neurology·Charalampos TzoulisLaurence A Bindoff
Oct 5, 2007·Nucleic Acids Research·Kim J KrishnanDoug Turnbull
Nov 30, 2011·TheScientificWorldJournal·Fabio Coppedè
Jun 8, 2012·Cold Spring Harbor Perspectives in Medicine·João Massano, Kailash P Bhatia
Feb 23, 2012·Cold Spring Harbor Perspectives in Medicine·Celine Perier, Miquel Vila
Mar 13, 2008·Annual Review of Neuroscience·Salvatore DiMauro, Eric A Schon
Oct 9, 2013·BMC Medical Genetics·Monica Bandettini di PoggioFilippo M Santorelli
Jan 9, 2009·Human Genomics·Michelangelo MancusoGabriele Siciliano
Feb 27, 2007·PLoS Genetics·Gregory C KujothTomas A Prolla
Sep 14, 2007·CNS Drugs·Edith G McGeer, Patrick L McGeer
Sep 6, 2012·International Journal of Molecular Sciences·Hemant KumarDong-Kug Choi
May 24, 2011·Parkinson's Disease·Joanne ClarkDavid K Simon
Feb 15, 2011·Parkinson's Disease·A R EstevesS M Cardoso
May 6, 2014·Revue neurologique·A Chaussenot, V Paquis-Flucklinger
Jun 8, 2014·Journal of Inherited Metabolic Disease·A Garcia-Cazorla, S T Duarte
Sep 10, 2014·Clinical Neurology and Neurosurgery·Rita MiguelMaria José Rosas
Aug 19, 2011·Antioxidants & Redox Signaling·Alzbeta TrancikovaDarren J Moore
Jun 21, 2015·Expert Review of Neurotherapeutics·Cristina CarvalhoPaula I Moreira
Aug 8, 2015·International Journal of Molecular Sciences·Naghia AhmedGiacomo Pietro Comi
Aug 26, 2014·Journal of the Neurological Sciences·Sasan AndalibAlbert Gjedde
Mar 1, 2015·Journal of the Neurological Sciences·Manuel Delgado-AlvaradoMaría Cruz Rodríguez-Oroz
Jan 27, 2016·Brain : a Journal of Neurology·Kristoffer HaugarvollCharalampos Tzoulis
Oct 16, 2012·Neurobiology of Disease·David N Hauser, Teresa G Hastings
Jul 19, 2011·Mutation Research·Ester López-GallardoEduardo Ruiz-Pesini
May 27, 2011·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·A García-CazorlaE Fernández-Álvarez
Mar 16, 2011·Journal of the Neurological Sciences·Josef Finsterer

❮ Previous
Next ❯

Related Concepts

Related Feeds

Axonal Neuropathies

Axonal Neuropathy refers to disease or dysfunction of nerves caused as a result of damage or degeneration of axons. Here is the latest research.