A novel polymerase γ mutation in a family with ophthalmoplegia, neuropathy, and parkinsonism

Archives of Neurology

Volumn 61, Issue 11, 2004, Pages 1777-1779

  Mancuso, Michelangelo ^a   Filosto, Massimiliano ^a   Oh, Shin J ^b   DiMauro, Salvatore ^a  

^a New York Presbyterian Columbia University Medical Center   (United States)

^b University of Alabama at Birmingham   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CITRATE SYNTHASE; CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; SUCCINATE DEHYDROGENASE;

ADULT; ANAMNESIS; ARTICLE; CASE REPORT; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; CLINICAL FEATURE; DISEASE ASSOCIATION; DISEASE COURSE; ENZYME ACTIVITY; FEMALE; GENE DELETION; GENE SEQUENCE; HUMAN; HUMAN TISSUE; HYPOGONADISM; MALE; MISSENSE MUTATION; MUSCLE BIOPSY; NERVE CONDUCTION; NEUROLOGIC EXAMINATION; PARKINSONISM; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SENSORY NEUROPATHY; STRUCTURAL GENE;

DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; DNA-DIRECTED DNA POLYMERASE; FEMALE; HUMANS; MALE; MIDDLE AGED; NERVOUS SYSTEM DISEASES; OPHTHALMOPLEGIA; PARKINSONIAN DISORDERS; PEDIGREE;

EID: 3543017697     PISSN: 00039942     EISSN: None     Source Type: Journal    
DOI: 10.1001/archneur.61.11.1777     Document Type: Article

References (21)

1. Hirano M, DiMauro S. ANT1, Twinkle, POLG, and TP. new genes open our eyes to ophthalmoplegia. Neurology. 2001;57:2163-2165.
2. Lamantea E, Tiranti V, Bordoni A, et al. Mutations of mitochondrial DNA polymerase gA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia, Ann Neurol. 2002;52:211-219.
3. Van Goethem G, Martin JJ, Dermaut B, et al. Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia. Neuromuscul Disord. 2003;13:133-142.
4. Agostino A, Valletta L, Chinnery PF, et al. Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO). Neurology. 2003;60:1354-1356.
5. Filosto M, Mancuso M, Nishigaki Y, et al. Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma. Arch Neurol. 2003;60:1279-1284.
6. Mancuso M, Filosto M, Bellan M, et al. POLG mutation causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness. Neurology. 2004;62:316-318.
7. Di Fonzo A, Bordoni A, Crimi M, et al. POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions. Hum Mutat. 2003;22:498-499.
8. Van Goethem G, Schwartz M, Lofgren A, et al. Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. Eur J Hum Genet. 2003;11:547-549.
9. Sciacco M, Bonilla E. Cytochemistry and immunocytochemistry of mitochondria in tissue sections. Methods Enzymol. 1996;264:509-521.
10. DiMauro S, Servidei S, Zeviani M, et al. Cytochrome c oxidase deficiency in Leigh syndrome. Ann Neurol. 1987;22:498-506.
11. Zeviani M, Moraes CT, DiMauro S, et al. Deletions of mitochondrial DNA in Kearns-Sayre syndrome. Neurology. 1988;38:1339-1346.
12. Vyas I, Heikkila RE, Nicklas WJ. Studies on the neurotoxicity of 1-methyl-4-phenyl-1,2,5,6-tetrahydropiridine: inhibition of NAD-linked substrate oxidation by its metabolite 1-methyl-4-pyridinium. J Neurochem. 1986;46:1501-1507.
13. Schapira AH, Cooper JM, Dexter D, Jenner P, Clark JB, Marsden CD. Mitochondrial complex I deficiency in Parkinson's disease. Lancet. 1989;1:1269.
14. Chalmers RM, Brockington M, Howard RS, et al. Mitochondrial encephalopathy with multiple mitochondrial DNA deletions: a report of two families and two sporadic cases with unusual clinical and neuropathological features. J Neurol Sci. 1996;143:41-45.
15. Siciliano G, Mancuso M, Ceravolo R, et al. Mitochondrial DNA rearrangements in young onset parkinsonism: two case reports. J Neurol Neurosurg Psychiatry. 2001;71:685-687.
16. Casali C, Bonifati V, Santorelli FM, et al. Mitochondrial myopathy, parkinsonism, and multiple mtDNA deletions in a Sephardic Jewish family. Neurology. 2001;56:802-805.
17. Kosel S, Grasbon-Frodl EM, Mautsch U, et al. Novel mutations of mitochondrial complex I in pathologically proven Parkinson disease. Neurogenetics. 1998;1:197-204.
18. Thyagarajan D, Bressman S, Bruno C, et al. A novel mitochondrial 12S rRNA point mutation in Parkinsonism, deafness and neuropathy. Ann Neurol. 2000;48:730-736.
19. De Coo IFM, Renier WO, Ruitenbeek W, et al. A 4-base pair deletion in the mitochondrial cytochrome b gene associated with Parkinsonism/MELAS overlap syndrome. Ann Neurol. 1999;45:130-133.
20. van der Walt JM, Nicodemus KK, Martin ER, et al. Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease. Am J Hum Genet. 2003;72:804-811.
21. Klopp N, Heon E, Billingsley G, et al. Further genetic heterogeneity for autosomal dominant human suturai cataracts. Ophthalmic Res. 2003;35:71-77.