Novel polymerase gamma (POLG1) gene mutation in the linker domain associated with parkinsonism

BMC Neurology

Volumn 13, Issue , 2013, Pages

  Dolhun, Rachel ^a   Presant, Erin M ^a   Hedera, Peter ^a  

^a VANDERBILT UNIVERSITY   (United States)

Author keywords

Ataxia; Mitochondrial DNA polymerase gamma (POLG1); Parkinsonism; Progressive external ophthalmoplegia; Sensory neuropathy

Indexed keywords

AMANTADINE; CARBIDOPA PLUS LEVODOPA; CYTOCHROME C OXIDASE; DNA DIRECTED DNA POLYMERASE GAMMA; DONEPEZIL; MEMANTINE; POLYMERASE GAMMA 1; UNCLASSIFIED DRUG;

AGED; ARTICLE; BODY POSTURE; BRADYKINESIA; CASE REPORT; CAUCASIAN; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; DEMENTIA; DIPLOPIA; DISEASE COURSE; DNA EXTRACTION; EXON; EXTERNAL OPHTHALMOPLEGIA; GENE AMPLIFICATION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MALE; MUSCLE BIOPSY; NUCLEAR MAGNETIC RESONANCE IMAGING; PARKINSONISM; PTOSIS; RIGIDITY; SHUFFLING GAIT; SINGLE NUCLEOTIDE POLYMORPHISM; TREATMENT RESPONSE;

AGED; DNA-DIRECTED DNA POLYMERASE; HUMANS; MALE; MUTATION; OPHTHALMOPLEGIA, CHRONIC PROGRESSIVE EXTERNAL; PARKINSONIAN DISORDERS;

EID: 84880335678     PISSN: None     EISSN: 14712377     Source Type: Journal    
DOI: 10.1186/1471-2377-13-92     Document Type: Article

References (17)

1. van Goethem G, Dermaut B, Lofgren A, Löfgren A, Martin JJ, Van Broeckhoven C. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA mutations. Nat Genet 2001, 28:211-212. 10.1038/90034, 11431686.
2. Wong L-JC, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C, Milone M, Cohen BH, Wical B, Ganesh J, Basinger AA, Burton BK, Swoboda K, Gilbert DL, Vanderver A, Saneto RP, Maranda B, Arnold G, Abdenur JE, Waters PJ, Copeland WC. Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. Hum Mutat 2008, 29:E150-E172. 10.1002/humu.20824, 2891192, 18546365.
3. Blok MJ, van den Bosch BJ, Jongen E, Hendrickx A, de Die-Smulders CE, Hoogendijk JE, Brusse E, de Visser M, Poll-The BT, Bierau J, de Coo IF, Smeets HJ. The unfolding clinical spectrum of POLG mutations. J Med Genet 2009, 46:776-785. 10.1136/jmg.2009.067686, 19578034.
4. Davidzon G, Greene P, Mancuso M, Klos KJ, Ahlskog JE, Hirano M, DiMauro S. Early-onset familial parkinsonism due to POLG mutations. Ann Neurol 2006, 59:859-862. 10.1002/ana.20831, 16634032.
5. Lamantea E, Tiranti V, Bordoni A, Toscano A, Bono F, Servidei S, Papadimitriou A, Spelbrink H, Silvestri L, Casari G, Comi GP, Zeviani M. Mutations of mitochondrial DNA polymerase gamma A are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. Ann Neurol 2002, 52:211-219. 10.1002/ana.10278, 12210792.
6. Mancuso M, Filosto M, Oh SJ, DiMauro S. A novel polymerase gamma mutation in a family with ophthlmoplegia, neuropathy, and parkinsonism. Arch Neurol 2004, 61:1777-1779. 10.1001/archneur.61.11.1777, 15534189.
7. Schulte C, Synofzik M, Gasser T, Schols L. Ataxia and ophthalmoplegia or sensory neuropathy is frequently caused by POLG mutations. Neurology 2009, 73:898-900. 10.1212/WNL.0b013e3181b78488, 19752458.
8. Kaukonen J, Juselius JK, Tiranti V, Kyttala A, Zeviani M, Comi GP, Keranen J, Peltonen L, Suomalainen A. Role of adenine nucleotide translocator 1 in mtDNA maintenance. Science 2000, 289:782-785. 10.1126/science.289.5480.782, 10926541.
9. Baloh RH, Salavaggione E, Milbrandt J, Pestronk A. Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle. Arch Neurol 2007, 64:998-1000. 10.1001/archneur.64.7.998, 17620490.
10. Hudson G, Tiangyou W, Stutt A, Eccles M, Robinson L, Burn DJ, Chinnery PF. No association between common POLG1 variants and sporadic idiopathic Parkinson's disease. Mov Disord 2009, 24:1092-1094. 10.1002/mds.22310, 19243043.
11. Invernizzi F, Varanese S, Thomas A, Carrara F, Onofrj M, Zeviani M. Two novel POLG1 mutations in a patient with progressive external ophthalmoplegia, levodopa-responsive pseudo-orthostatic tremor and parkinsonism. Neuromuscul Disorder 2008, 18:460-464.
12. Luoma P, Melberg A, Rinne JO, Kaukonen JA, Nupponen NN, Chalmers RM, Oldfors A, Rautakorpi I, Peltonen L, Majamaa K, Somer H, Suomalainen A. Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study. Lancet 2004, 364:875-882. 10.1016/S0140-6736(04)16983-3, 15351195.
13. Synofzik M, Asmus F, Reimold M, Schöls L, Berg D. Sustained dopaminergic response of parkinsonism and depression in POLG-associated parkinsonism. Mov Disord 2010, 25:243-251. 10.1002/mds.22865, 19998270.
14. Hudson G, Schaefer AM, Taylor RW, Tiangyou W, Gibson A, Venables G, Griffiths P, Burn DJ, Turnbull DM, Chinnery PF. Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and parkinsonism. Arch Neurol 2007, 64:553-557. 10.1001/archneur.64.4.553, 17420318.
15. van Goethem G, Luoma P, Rantamäki M, Al Memar A, Kaakkola S, Hackman P, Krahe R, Löfgren A, Martin JJ, De Jonghe P, Suomalainen A, Udd B, Van Broeckhoven C. POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. Neurology 2004, 63:1251-1257. 10.1212/01.WNL.0000140494.58732.83, 15477547.
16. Horvath R, Hudson G, Ferrari G, Fütterer N, Ahola S, Lamantea E, Prokisch H, Lochmüller H, McFarland R, Ramesh V, Klopstock T, Freisinger P, Salvi F, Mayr JA, Santer R, Tesarova M, Zeman J, Udd B, Taylor RW, Turnbull D, Hanna M, Fialho D, Suomalainen A, Zeviani M, Chinnery PF. Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene. Brain 2006, 129:1674-1684. 10.1093/brain/awl088, 16621917.
17. Milone M, Massie R. Polymerase gamma 1 mutations. Clinical correlations. Neurologist 2010, 16:84-91. 10.1097/NRL.0b013e3181c78a89, 20220442.