A variable neurodegenerative phenotype with polymerase γ mutation

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 80, Issue 10, 2009, Pages 1181-1182

  Stricker, S ^a   Pruss H ^a   Horvath, R ^b,c   Baruffini, E ^d   Lodi, T ^d   Siebert, E ^a   Endres, M ^a,e   Zschenderlein, R ^a   Meisel, A ^a  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

^d UNIVERSITY OF PARMA   (Italy)

^e Centrum für Schlaganfallforschung Berlin CSB   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE KINASE; DNA DIRECTED DNA POLYMERASE GAMMA; LACTIC ACID; LAMOTRIGINE; MACROPHAGE INFLAMMATORY PROTEIN 1; MITOCHONDRIAL DNA; PRIMIDONE; VALPROIC ACID;

ABDOMINAL PAIN; ADULT; ANXIETY; CASE REPORT; CEREBELLAR ATAXIA; CEREBELLUM ATROPHY; CREATINE KINASE BLOOD LEVEL; DEVELOPMENTAL DISORDER; DYSPHAGIA; ELECTROENCEPHALOGRAPHY; EPILEPTIC STATE; EVOKED VISUAL RESPONSE; FEMALE; FOCAL EPILEPSY; GENE MUTATION; GRAND MAL SEIZURE; HETEROZYGOSITY; HUMAN; HYPESTHESIA; INTESTINE PSEUDOOBSTRUCTION; LACTATE BLOOD LEVEL; LETTER; LEUKOENCEPHALOPATHY; MALE; MIGRAINE; MISSENSE MUTATION; MUTANT; MYOCLONUS EPILEPSY; NERVE DEGENERATION; NEUROPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN CEREBROSPINAL FLUID LEVEL; PSYCHOMOTOR DEVELOPMENT; QUADRIPLEGIA; RESTLESS LEGS SYNDROME; SEIZURE; SENSORY NEUROPATHY; TONIC CLONIC SEIZURE; WEIGHT REDUCTION;

ADULT; DNA-DIRECTED DNA POLYMERASE; FEMALE; HUMANS; MALE; MUTATION; NEURODEGENERATIVE DISEASES; PEDIGREE; PHENOTYPE; YOUNG ADULT;

EID: 70349680614     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp.2008.166066     Document Type: Letter

References (5)

1. Van Goethem G, Dermaut B, Lofgren A, et al. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat Genet 2001;28:211-222 (Pubitemid 32626018)
2. Horvath R, Hudson G, Ferrari G, et al. Phenotypic spectrum associated with mutations of the mitochondrial polymerase c gene. Brain 2006;129:1674-1684 (Pubitemid 43999402)
3. Wong LJC, Naviaux RK, Brunetti-Pierri N, et al. Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. Hum Mut 2008;29:E150-72.
4. Yamanaka H, Gatanaga H, Kosalaraksa P, et al. Novel mutation of human DNA polymerase gamma associated with mitochondrial toxicity induced by anti-HIV treatment. J Inf Dis 2007;195:1419-1425 (Pubitemid 46717459)
5. Baruffini E, Ferrero I, Foury F. Mitochondrial DNA defects in Saccharomyces cerevisiae caused by functional interactions between DNA polymerase gamma mutations associated with disease in human. Biochim Biophys Acta 2007;1772:1225-1235