Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency.
Agnes RotigPauline GaignardGiulia BarciaZahra AssoulineClaire-Marine BeratMagalie BarthLéna DamajNolwenn LabordeMarie-Thérèse Abi-WardeBrigitte ChabrolPascale De LonlayIsabelle DesguerreAlice GoldenbergEmmanuel GonzalesEmmanuel JacqueminPatrizia Amati-BonneauDominique BonneauVéronique AbadieChrystèle BonnemainsPierre BroueAnne De Saint-MartinPhilippe DurandAlain FouilhouxBertrand IsidorMarianne JaroussieGuillaume JedraszakHélène MaureyKarine MentionSylvie S OdentLaurent PasquierChristelle Rougeot-JungCyril GitiauxCharles-Joris RouxNathalie BoddaertArnold MunnichManuel SchiffPublished in: Neurology. Genetics (2024)
The study demonstrates the prevalence of neurologic presentation and the extent of central, peripheral, and autonomous nervous system involvement in 60% of patients. Most of the patients with early onset and rapidly fatal hepatic failure did not live long enough to develop neurologic symptoms. The study revealed a new clinical form of POLG deficiency presenting with neurodigestive symptoms with longer lifespan. We also propose that POLG deficiency should be considered in children presenting with unexplained polyradiculoneuropathy, demyelinating neuropathy, and elevated CSF protein. Finally, valproate administration remains a notable cause of avoidable death in POLG-deficient patients.