Abstract
To describe the spectrum of movement disorders and cerebrospinal fluid (CSF) neurotransmitter profiles in paediatric patients with POLG disease. We identified children with genetically confirmed POLG disease, in whom CSF neurotransmitter analysis had been undertaken. Clinical data were collected retrospectively. CSF neurotransmitter levels were compared to both standardised age-related reference ranges and to non-POLG patients presenting with status epilepticus. Forty-one patients with POLG disease were identified. Almost 50% of the patients had documented evidence of a movement disorder, including non-epileptic myoclonus, choreoathetosis and ataxia. CSF neurotransmitter analysis was undertaken in 15 cases and abnormalities were seen in the majority (87%) of cases tested. In many patients, distinctive patterns were evident, including raised neopterin, homovanillic acid and 5-hydroxyindoleacetic acid levels. Children with POLG mutations can manifest with a wide spectrum of abnormal movements, which are often prominent features of the clinical syndrome. Underlying pathophysiology is probably multifactorial, and aberrant monoamine metabolism is likely to play a role.
References
Jul 1, 1993·Pediatric Research·K HylandI Smith
Dec 21, 2005·Annals of Neurology·Merce PinedaRafael Artuch
May 8, 2007·Human Molecular Genetics·Neil AshleyJoanna Poulton
Sep 21, 2007·Developmental Medicine and Child Neurology·A García-CazorlaR M D Artuch
Nov 6, 2007·Mitochondrion·Karl J MortenJoanna Poulton
Apr 17, 2008·Neurology·A Garcia-CazorlaV T Ramaekers
Jun 19, 2008·Mitochondrion·Angels Garcia-CazorlaRafael Artuch
Dec 24, 2008·Archives of Disease in Childhood·Shamima Rahman, Joanna Poulton
Feb 5, 2009·Developmental Medicine and Child Neurology·Russell C DaleJohn Earl
Sep 22, 2009·Molecular Genetics and Metabolism·Oswald HasselmannMarkus Weissert
Dec 19, 2009·Neurology·H CarioK Schwarz
Feb 4, 2010·PLoS Biology·Derek P NarendraRichard J Youle
Jun 19, 2010·Methods : a Companion to Methods in Enzymology·Bruce H Cohen, Robert K Naviaux
Jun 28, 2011·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Bláthnaid McCoyBryan J Lynch
Oct 1, 2011·Movement Disorders : Official Journal of the Movement Disorder Society·Claire HinnellMichael Samuel
Aug 11, 2012·PloS One·Wilhelmina G LeenMarcel M Verbeek
Aug 1, 2013·Seizure : the Journal of the British Epilepsy Association·Nicholas M AllenMary D King
Oct 22, 2013·Neurochemistry International·Sophie-Beth AylettSimon J R Heales
Jul 15, 2015·Epilepsy & Behavior : E&B·Shamima Rahman
Jul 17, 2015·Neuron·Alicia M PickrellRichard J Youle
Sep 24, 2015·Nature Reviews. Neurology·Joanne NgManju A Kurian
Jan 7, 2016·PloS One·Sanjeev RajakulendranShamima Rahman
Mar 17, 2016·Mitochondrion·Charalampos TzoulisLaurence A Bindoff
Apr 26, 2016·JAMA Neurology·Mika H MartikainenDoug M Turnbull
May 5, 2017·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Omar HikmatShamima Rahman
Citations
Jan 8, 2019·Journal of Gastroenterology and Hepatology·Salman HussainAbul Kalam Najmi
Feb 9, 2019·Journal of Inherited Metabolic Disease·Alfonso Oyarzabal, Isaac Marin-Valencia
Sep 3, 2020·Epilepsia·Snehal SuranaYael Hacohen
Nov 19, 2019·Frontiers in Genetics·Federica GraziolaAlessandro Capuano
May 10, 2020·AJNR. American Journal of Neuroradiology·F G GonçalvesG Zuccoli
Mar 28, 2019·Journal of Inherited Metabolic Disease·Simon PopeShamima Rahman
Jan 12, 2021·Movement Disorders Clinical Practice·Malco RossiBart van de Warrenburg
Feb 11, 2021·International Journal of Neonatal Screening·Kanokwan SriwattanapongVorasuk Shotelersuk