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Review

Alpers–Huttenlocher syndrome: the role of a multidisciplinary health care team

Pages 323-333 | Published online: 26 Jul 2016

References

  • BlackwoodWBuxtonPHCumingsJNRoertsonDJTuckerSMDiffuse cerebral degeneration in infancy (Alpers’ disease)Arch Dis Child19633819320413971413
  • AlpersBJDiffuse progressive degeneration of the gray matter of the cerebrumArch Neurol Psychiatry193125469505
  • MorseWIHereditary myoclonus epilepsy: two cases with pathological findingsBull Johns Hopkins Hosp19498411613318128978
  • HardingBNProgressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher syndrome): a personal reviewJ Child Neurol199052732872246481
  • HuttenlocherPRSolitareGBAdamsGInfantile diffuse cerebral degeneration with hepatic cirrhosisArch Neurol1976331861921252162
  • SandbankULermanJProgressive cerebral poliodystrophy – Alpers’ disease: disorganized giant neuronal mitochondria on electron microscopyJ Neurol Neurosurg Psychiatry1972357497554647849
  • RoppPACopelandWCCloning and characterization of the human mitochondrial DNA polymerase γGenomics1996364494588884268
  • LecrenierNVan Der BruggenPFouryFMitochondrial DNA polymerases from yeast to man: a new family of polymerasesGene19971851471529034326
  • NaviauxRKNyhanWLBarshopBAMitochondrial DNA polymerase γ deficiency and mtDNA depletion in a child with Alpers’ syndromeAnn Neurol19994554589894877
  • NaviauxRKNguyenKVPOLG mutations associated with Alpers syndrome and mitochondrial DNA depletionAnn Neurol20045570671215122711
  • National Institute of Environmental Health SciencesHuman DNA Polymerase gamma Mutation Database Available from: http://tools.niehs.nih.gov/polgAccessed May 31, 2016
  • SanetoRPNaviauxRKPolymerase gamma disease through the agesDev Disabil Res Rev20101616317420818731
  • CohenBHNaviauxRKThe clinical diagnosis of POLG disease and other mitochondrial DNA depletion disordersMethods20105136437320558295
  • GraziewiczMALongleyMJCopelandWCDNA polymerase γ in mitochondrial DNA replication and repairChem Rev200610638340516464011
  • Van GoethemGDermautBLöfgrenAMartinJJVan BroeckhovenCMutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletionsNat Genet20012821121211431686
  • WongLJNaviauxRKBrunetti-PierriNMolecular and clinical genetics of mitochondrial diseases due to POLG mutationsHum Mutat200829E150E17218546365
  • FerrariGLamaneaEDonatiAInfantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-γABrain200512872373115689359
  • de VriesMCRodenburgRJMorvaEMultiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutationsEur J Pediatr200716622923416957900
  • TzoulisCEngelsenBATelstadWThe spectrum of clinical disease caused by A467T and W748S POLG mutations: a study of 26 casesBrain20061291685169216638794
  • SanetoRPLeeICKoenigMKPOLG DNA testing as an emerging standard of care before institution valproic acid therapy for pediatric seizure disordersSeizure20101914014620138553
  • WiltshireEDavidzonGDiMauroSJuvenile Alpers diseaseArch Neurol20086512112418195149
  • UusimaaJHinttalaRRantalaHHomozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndromeEpilepsia2008491038104518294203
  • Van GoethamGLuomaPRantamäkiMPOLG mutations in neurodegenerative disorders with ataxia but no muscle involvementNeurology2004631251125715477547
  • HakonenAHHeiskanenSJuvonenVMitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European originAm J Hum Genet20057743044116080118
  • SchulteCSynofzikMGasserTSchölsLAtaxia with ophthalmoplegia or sensory neuropathy is frequently caused by POLG mutationsNeurology20097389890019752458
  • Van GoethemGMartinJJDermautBRecessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygotes patients with progressive external ophthalmoplegiaNeuromuscul Disord20031313314212565911
  • ChinneryPFZevianiM155th ENMC workshop: polymerase gamma and disorders of mitochondrial DNA synthesis, 21–23 September 2007, Naarden, the NetherlandsNeuromuscul Disord20081825926718160290
  • TchikviladzéMGillersonMMaisonobeTA diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificJ Neurol Neurosurg Psychiatry20158664665425118206
  • NguyenKVShariefFSChanSSCopelandWCNaviauxRKMolecular diagnosis of Alpers syndromeJ Hepatol20064510811616545482
  • de VriesMCRodenburgRJMoravaEMultiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutationsEur J Pediatr200716622923416957900
  • SanetoRPCohenBHCopelandWCNaviauxRKAlpers-Huttenlocher syndromePediatr Neurol20134816717823419467
  • ChanSSLongleyMCopelandWCThe common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunitJ Biol Chem200536313413134616024923
  • GraziewiczMALongleyMJCopelandWCDNA polymerase γ in mitochondrial DNA replication and repairChem Rev200610638340516464011
  • NguyenKVØstergaardERavinSHPOLG mutations in Alpers syndromeNeurology2005651493149516177225
  • KaguniLSDNA polymerase γ, the mitochondrial replicaseAnnu Rev Biochem20047329332015189144
  • LeeYSJohnsonKAMolineuxIJYinYWA single mutation in human mitochondrial DNA polymerase Pol γA affects both polymerization and proofreading activities of only the holoenzymeJ Biol Chem2010285281052811620513922
  • LeeYSKennedyWDYinYWStructural insight into processive human mitochondrial DNA synthesis and disease-related polymerase mutationsCell200913931232419837034
  • EuroLFarnumGAPalinESuomalainenAKaguniLSClustering of Alpers disease mutations and catalytic defects in biochemical variants reveal new features of molecular mechanism of the human mitochondrial replicase, Pol γNucleic Acids Res2011399072908421824913
  • TangSWangJLeeNCMitochondrial DNA polymerase γ mutations: an ever expanding molecular and clinical spectrumJ Med Genet20114866968121880868
  • ChanSSCopelandWCDNA polymerase gamma and mitochondrial disease: understanding the consequence of POLG mutationsBiochim Biophys Acta2009178731231919010300
  • NaviauxRKChildhood Alpers-Huttenlocher syndromeSanetoRPParikhSCohenBHMitochondrial Case Studies: Underlying Mechanisms and DiagnosisAmsterdamElsevier2016135148
  • DavidzonGMancusoMFerrarisSPOLG mutations and Alpers syndromeAnn Neurol20055792192315929042
  • HardingBNProgressive neurological degeneration of childhood with liver disease (Alpers’ disease) presenting in young adultsJ Neurol Neurosurg Psychiatry1995583203257897414
  • NaviauxRKMetabolic features of the cell danger responseMitochondrion20141671723981537
  • BeattyCSanetoRPJuvenile Alpers-Huttenlocher syndromeSanetoRPParikhSCohenBHMitochondrial Case Studies: Underlying Mechanisms and DiagnosisAmsterdamElsevier2016149158
  • WolfNIRahmanSSchmittBStatus epilepticus in children with Alpers’ disease caused by POLG1 mutations: EEG and MRI featuresEpilepsia2009501596160719054397
  • EngelsenBATzoulisCKarlsenBPOLG1 mutations cause a syndromic epilepsy with occipital lobe predilectionBrain200813181882818238797
  • VisserNAKraunKPvan den BerghWMJuvenile-onset Alpers syndrome: interpreting MRI findingsNeurology2010741231123320385895
  • HorvathRHudsonGFerrariGPhenotypic spectrum associated with mutations of the mitochondrial polymerase γ geneBrain20061291674168416621917
  • LuomaPMelbergARinneJOParkinsonism, premature menopause, and mitochondrial DNA polymerase γ mutations: clinical and molecular genetic studyLancet200436487588215351195
  • BickneseARMayWHickeyWRDodsonWEEarly childhood hepatocerebral degeneration misdiagnosed as valproate hepatotoxicityAnn Neurol1992327677751471867
  • SimonatiAFilostoMSavioCFeatures of cell death in brain and liver, the target tissues of progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher disease)Acta Neuropathol2003106576512721699
  • BoydSGHardenAEggerJPampiglioneGProgressive neuronal degeneration of childhood with liver disease (“Alpers’ disease”): characteristic neurophysiological featuresNeuropediatrics19861775803724991
  • FellmanVDotarskyHMitochondrial hepatopathies in the newborn periodSemin Fetal Neonatal Med20111622222821680270
  • GiordanoCSebastianiMDe GiorgioRGastrointestinal dysmotility in mitochondrial neurogastrointestinal encephalomyopathy is caused by mitochondrial DNA depletionAm J Pathol20081731120112818787099
  • BaiHXMaMHOrabiAINovel characterization of drug-associated pancreatitis in childrenJ Pediatr Gastroenterol Nutr20115342342821681111
  • PennellPBNewportDJStoweZNHelmersSLMontogomeryJQHenryTRThe impact of pregnancy and childbirth on the metabolism of lamotrigineNeurology20046229229514745072
  • de HaanGHEdelbroekPSegersJGestation-induced changes in lamotrigine pharmacokinetics: a monotherapy studyNeurology20046357157315304599