Research & Literature

Valproic acid-induced hepatotoxicity in Alpers syndrome is associated with mitochondrial permeability transition pore opening-dependent apoptotic sensitivity in an induced pluripotent stem cell model.

Li S, Guo J, Ying Z, et al.

Hepatology (Baltimore, Md.) 2015; (61(5)):1730-9 doi:10.1002/hep.27712.

The in cis T251I and P587L POLG1 base changes: description of a new family and literature review.

Scuderi C, Borgione E, Castello F, et al.

Neuromuscular disorders : NMD 2015; (25(4)):333-9.

Delayed-onset Friedreich's ataxia revisited.

Lecocq C, Charles P, Azulay JP, et al.

Movement disorders : official journal of the Movement Disorder Society 2016; (31(1)):62-9 doi:10.1002/mds.26382.

[Autoantibodies in Guillain-Barré Syndrome].

Uchibori A, Chiba A

Brain and nerve = Shinkei kenkyu no shinpo 2015; (67(11)):1347-57 doi:10.11477/mf.1416200305.

A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.

Rajakulendran S, Pitceathly RD, Taanman JW, et al.

PloS one 2016; (11(1)):e0145500 doi:10.1371/journal.pone.0145500.

Peripheral neuropathy in genetically characterized patients with mitochondrial disorders: A study from south India.

Bindu PS, Govindaraju C, Sonam K, et al.

Mitochondrion 2016; (27()):1-5.

Guillain-Barré syndrome.

Willison HJ, Jacobs BC, van Doorn PA

Lancet (London, England) 2016; (388(10045)):717-27.

Ophthalmological findings in 74 patients with mitochondrial disease.

Zhu CC, Traboulsi EI, Parikh S

Ophthalmic genetics 2017; (38(1)):67-69 doi:10.3109/13816810.2015.1130153.

Mitochondrial disease patients' perception of dietary supplements' use.

Karaa A, Kriger J, Grier J, et al.

Molecular genetics and metabolism 2016; (119(1-2)):100-8.

Bilateral Vestibulopathy Aggravates Balance and Gait Disturbances in Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis: A Case Report.

van Leeuwen RB, Smits BW, Rodenburg RJ, van Engelen BG

Journal of clinical neuromuscular disease 2016; (18(1)):34-6 doi:10.1097/CND.0000000000000126.

Epilepsy due to mutations in the mitochondrial polymerase gamma (POLG) gene: A clinical and molecular genetic review.

Anagnostou ME, Ng YS, Taylor RW, McFarland R

Epilepsia 2016; (57(10)):1531-1545 doi:10.1111/epi.13508.

[Chronic Inflammatory Demyelinating Polyneuropathy].

Balke M, Wunderlich G, Brunn A, et al.

Fortschritte der Neurologie-Psychiatrie 2016; (84(12)):756-769 doi:10.1055/s-0042-120226.

The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations.

Hikmat O, Tzoulis C, Chong WK, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2017; (19(11)):1217-1225 doi:10.1038/gim.2017.35.

Pathogenicity in POLG syndromes: DNA polymerase gamma pathogenicity prediction server and database.

Nurminen A, Farnum GA, Kaguni LS

BBA clinical 2017; (7()):147-156 doi:10.1016/j.bbacli.2017.04.001.

Speech and swallowing abnormalities in adults with POLG associated ataxia (POLG-A).

Vogel AP, Rommel N, Oettinger A, et al.

Mitochondrion 2017; (37()):1-7 doi:10.1016/j.mito.2017.06.002.

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.

Parikh S, Goldstein A, Karaa A, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2017; (19(12)) doi:10.1038/gim.2017.107.

Understanding the Epilepsy in POLG Related Disease.

Hikmat O, Eichele T, Tzoulis C, Bindoff LA

International journal of molecular sciences 2017; (18(9)) doi:10.3390/ijms18091845.

Protein molecular modeling shows residue T599 is critical to wild-type function of POLG and description of a novel variant associated with the SANDO phenotype.

Richter JE, Robles HG, Mauricio E, et al.

Human genome variation 2018; (5()):18016 doi:10.1038/hgv.2018.16.

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) with chronic cough and preserved muscle stretch reflexes: evidence for selective sparing of afferent Ia fibres.

Infante J, García A, Serrano-Cárdenas KM, et al.

Journal of neurology 2018; (265(6)):1454-1462 doi:10.1007/s00415-018-8872-1.

Elevated cerebrospinal fluid protein in POLG-related epilepsy: Diagnostic and prognostic implications.

Hikmat O, Naess K, Engvall M, et al.

Epilepsia 2018; (59(8)):1595-1602 doi:10.1111/epi.14459.

POLG-related disorders and their neurological manifestations.

Rahman S, Copeland WC

Nature reviews. Neurology 2019; (15(1)):40-52 doi:10.1038/s41582-018-0101-0.

[An interpretation of the expert consensus on standards for the management of patients with primary mitochondrial disease from the Mitochondrial Medicine Society].

Guo Y, Hong SQ, Jiang L

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2018; (20(11)):887-892.

Infectious stress triggers a POLG-related mitochondrial disease.

Gaudó P, Emperador S, Garrido-Pérez N, et al.

Neurogenetics 2020; (21(1)):19-27 doi:10.1007/s10048-019-00593-2.

The mitochondrial epilepsies.

Lim A, Thomas RH

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2020; (24()):47-52 doi:10.1016/j.ejpn.2019.12.021.

Safety of drug use in patients with a primary mitochondrial disease: An international Delphi-based consensus.

De Vries MC, Brown DA, Allen ME, et al.

Journal of inherited metabolic disease 2020; (43(4)):800-818 doi:10.1002/jimd.12196.

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.

Cortese A, Tozza S, Yau WY, et al.

Brain : a journal of neurology 2020; (143(2)):480-490 doi:10.1093/brain/awz418.

Consensus-based statements for the management of mitochondrial stroke-like episodes.

Ng YS, Bindoff LA, Gorman GS, et al.

Wellcome open research 2019; (4()):201 doi:10.12688/wellcomeopenres.15599.1.

The Perirolandic Sign: A Unique Imaging Finding Observed in Association with Polymerase γ-Related Disorders.

Gonçalves FG, Hill B, Guo Y, et al.

AJNR. American journal of neuroradiology 2020; (41(5)):917-922 doi:10.3174/ajnr.A6514.

Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases.

Hikmat O, Naess K, Engvall M, et al.

Journal of inherited metabolic disease 2020; (43(4)):726-736 doi:10.1002/jimd.12211.

Rod bipolar cell dysfunction in POLG retinopathy.

Sanderson KG, Millar E, Tumber A, et al.

Documenta ophthalmologica. Advances in ophthalmology 2021; (142(1)):111-118 doi:10.1007/s10633-020-09777-w.

MRI findings in SANDO variety of the ataxia-neuropathy spectrum with a novel mutation in POLG (c.3287G>T): A case report.

Parada-Garza JD, López-Valencia G, Miranda-García LA, et al.

Neuromuscular disorders : NMD 2020; (30(7)):590-592 doi:10.1016/j.nmd.2020.04.008.

Evolving Immunologic Perspectives in Chronic Inflammatory Demyelinating Polyneuropathy.

Rajabally YA, Attarian S, Delmont E

Journal of inflammation research 2020; (13()):543-549 doi:10.2147/JIR.S224781.

Compound Heterozygosity for a Novel Frameshift Variant Causing Fatal Infantile Liver Failure and Genotype-Phenotype Correlation of POLG c.3286C>T Variant.

Sriwattanapong K, Rojnueangnit K, Theerapanon T, et al.

International journal of neonatal screening 2021; (7(1)) doi:10.3390/ijns7010009.

Clinical and Molecular Features of POLG-Related Sensory Ataxic Neuropathy with Dysarthria and Ophthalmoparesis.

Li LX, Jiang LT, Pan YG, et al.

Journal of molecular neuroscience : MN 2021; (71(12)):2462-2467 doi:10.1007/s12031-021-01831-9.

Polymerase Gamma Mitochondrial DNA Depletion Syndrome Initially Presenting as Disproportionate Respiratory Distress in a Moderately Premature Neonate: A Case Report.

Franklin AD, Chaudhari BP, Koboldt DC, Machut KZ

Frontiers in genetics 2021; (12()):664278 doi:10.3389/fgene.2021.664278.

Natural History of Polymerase Gamma-Related Ataxia.

Bender F, Timmann D, van de Warrenburg BP, et al.

Movement disorders : official journal of the Movement Disorder Society 2021; (36(11)):2642-2652 doi:10.1002/mds.28713.

Forecasting stroke-like episodes and outcomes in mitochondrial disease.

Ng YS, Lax NZ, Blain AP, et al.

Brain : a journal of neurology 2022; (145(2)):542-554 doi:10.1093/brain/awab353.

Peri-operative management of an adult with POLG-related mitochondrial disease.

Valent A, Delorme L, Roland E, et al.

Anaesthesia reports 2022; (10(1)):e12159 doi:10.1002/anr3.12159.

Stroke-like episodes in adult mitochondrial disease.

Ng YS, Gorman GS

Handbook of clinical neurology 2023; (194()):65-78 doi:10.1016/B978-0-12-821751-1.00005-1.

Miller Fisher syndrome: an updated narrative review.

Noioso CM, Bevilacqua L, Acerra GM, et al.

Frontiers in neurology 2023; (14()):1250774 doi:10.3389/fneur.2023.1250774.

Dysarthria and dysphagia in patients with mitochondrial diseases.

Kuin REM, Groothuis JT, Buit P, et al.

Molecular genetics and metabolism 2024; (142(3)):108510 doi:10.1016/j.ymgme.2024.108510.

Evidence for sodium valproate toxicity in mitochondrial diseases: a systematic analysis.

Ratnaike TE, Elkhateeb N, Lochmüller A, et al.

BMJ neurology open 2024; (6(1)):e000650 doi:10.1136/bmjno-2024-000650.

Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency.

Rötig A, Gaignard P, Barcia G, et al.

Neurology. Genetics 2024; (10(4)):e200167 doi:10.1212/NXG.0000000000200167.

Antibodies in Autoimmune Neuropathies: What to Test, How to Test, Why to Test.

Pascual-Goñi E, Caballero-Ávila M, Querol L

Neurology 2024; (103(4)):e209725 doi:10.1212/WNL.0000000000209725.

Safety and efficacy of deoxycytidine/deoxythymidine combination therapy in POLG-related disorders: 6-month interim results of an open-label, single arm, phase 2 trial.

Pekeles H, Berrahmoune S, Dassi C, et al.

EClinicalMedicine 2024; (74()):102740 doi:10.1016/j.eclinm.2024.102740.

Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey.

Ivaniuk A, Anselm IA, Bowen A, et al.

Neurology 2025; (104(4)):e209779 doi:10.1212/WNL.0000000000209779.

The POLG Variant c.678G>C; p.(Gln226His) Is Associated with Mitochondrial Abnormalities in Fibroblasts Derived from a Patient Compared to a First-Degree Relative.

Mantey I, Langerscheidt F, Çakmak Durmaz Ç, et al.

Genes 2025; (16(2)) doi:10.3390/genes16020198.

The impact of induced burst suppression on outcomes in patients with POLG-related status epilepticus.

Varhaug KN, Aanestad E, Holmaas G, et al.

Seizure 2025; doi:10.1016/j.seizure.2025.05.004.

Characterization of Novel POLG Mutations in Mitochondrial Encephalomyopathy: Pathogenic Validation and Comprehensive Genetic Profiling.

Zhou F, Chen J, Zhang T, et al.

Brain and behavior 2025; (15(11)):e71045 doi:10.1002/brb3.71045.

Liver Involvement in POLG Disease-a Multicentre Cohort Study of 202 Patients.

Kristensen E, Naess K, Engvall M, et al.

Journal of inherited metabolic disease 2025; (48(6)):e70112 doi:10.1002/jimd.70112.

A Scoping Review of POLG-Related Cerebellar Ataxia: Insights and Clinical Perspectives.

Kalampokini S, Keramidiotis I, Ravanidis S, et al.

Tremor and other hyperkinetic movements (New York, N.Y.) 2025; (15()):55 doi:10.5334/tohm.1027.

Juvenile/adult-onset POLG-related disease unmasked by valproate-associated fulminant hepatic failure.

Mathavan A, Rathi K, Mundhra LJ, Mathavan A

BMJ case reports 2025; (18(12)) doi:10.1136/bcr-2025-269373.

Rehabilitation challenges and progress in a patient with sensory ataxic Guillain-Barré syndrome: a case report.

Kinoshita T, Kawasaki S, Furotani Y, et al.

Physiotherapy theory and practice 2026; (42(10)):1340-1347 doi:10.1080/09593985.2026.2635043.

Clinical Heterogeneity and Candidate Biomarkers in POLG-Related Mitochondrial Disease.

Bermejo-Guerrero L, Restrepo-Vera JL, Martin-Jimenez P, et al.

Neurology. Genetics 2026; (12(2)):e200365 doi:10.1212/NXG.0000000000200365.

POLG-related disorders: Clinical and molecular Spectrum in the Saudi population.

Al Mutairi F, Joueidi F, Al Mutairi ZA, et al.

Molecular genetics and metabolism reports 2026; (47()):101322 doi:10.1016/j.ymgmr.2026.101322.

Adjunctive transcranial DC stimulation in the management of refractory drug-resistant focal epilepsy in POLG mitochondrial disease: A case series.

Bangel KA, Ng Y, Lim A, et al.

Seizure 2026; doi:10.1016/j.seizure.2026.05.009.

Long-term safety and efficacy of deoxycytidine/deoxythymidine in treatment of POLG-related disorders.

Cheung ACT, Berrahmoune S, Dassi C, et al.

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics 2026; (23(4)):e00945 doi:10.1016/j.neurot.2026.e00945.

Acute Liver Failure following Valproate Exposure in a Teenager with Homozygous POLG c.2243G>C (p.Trp748Ser) Mutation: Late-Onset Presentation and Successful Liver Transplantation - A Case Report.

Bingol I, Umur O, Sık SG, et al.

Molecular syndromology 2026; doi:10.1159/000552241.

Headache in mitochondrial diseases: From migraine to stroke-like episodes.

Azzimonti M, Padelli S, Ronchi D, et al.

Headache 2026; doi:10.1111/head.70180.

Progressive Axonal Neuropathy and Cerebellar Ataxia Associated with Homozygous Pathogenic POLG Mutation in a Patient of African Descent from Northern Minas Gerais/Jequitinhonha Valley, Brazil: A Case Report and Epidemiological Implications.

Melo CF, de Vasconcelos LT, Evangelista LAB

Tremor and other hyperkinetic movements (New York, N.Y.) 2026; (16()):52 doi:10.5334/tohm.1238.