메뉴 건너뛰기




Volumn 25, Issue 15, 2010, Pages 2678-2682

POLG, but not PEO1, is a frequent cause of cerebellar ataxia in Central Europe

Author keywords

Ataxia; Epilepsy; Genetics; Mitochondrial

Indexed keywords

DNA POLYMERASE; DNA POLYMERASE POLG; HELICASE; HELICASE PEO1; UNCLASSIFIED DRUG;

EID: 78349267915     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.23286     Document Type: Article
Times cited : (31)

References (17)
  • 1
    • 66849097994 scopus 로고    scopus 로고
    • Finding twinkle in the eyes of a 71-year-old lady: a case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease
    • Van Hove JL, Cunningham V, Rice C, et al. Finding twinkle in the eyes of a 71-year-old lady: a case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease. Am J Med Genet 2009; 149A: 861-867.
    • (2009) Am J Med Genet , vol.149 A , pp. 861-867
    • Van Hove, J.L.1    Cunningham, V.2    Rice, C.3
  • 2
    • 55149119156 scopus 로고    scopus 로고
    • Novel twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia
    • Virgilio R, Ronchi D, Hadjigeorgiou GM, et al. Novel twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia. J Neurol 2008; 255: 1384-1391.
    • (2008) J Neurol , vol.255 , pp. 1384-1391
    • Virgilio, R.1    Ronchi, D.2    Hadjigeorgiou, G.M.3
  • 3
    • 12544249406 scopus 로고    scopus 로고
    • Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism
    • Hudson G, Deschauer M, Busse K, Zierz S, Chinnery PF. Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism. Neurology 2005; 64: 371-373.
    • (2005) Neurology , vol.64 , pp. 371-373
    • Hudson, G.1    Deschauer, M.2    Busse, K.3    Zierz, S.4    Chinnery, P.F.5
  • 4
    • 0037306061 scopus 로고    scopus 로고
    • Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia
    • 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.
    • (2003) Neuromuscul Disord , vol.13 , pp. 133-142
    • Van Goethem, G.1    Martin, J.J.2    Dermaut, B.3
  • 5
    • 70349565390 scopus 로고    scopus 로고
    • Ataxia with ophthalmoplegia or sensory neuropathy is frequently caused by POLG mutations
    • Schulte C, Synofzik M, Gasser T, Schols L. Ataxia with ophthalmoplegia or sensory neuropathy is frequently caused by POLG mutations. Neurology 2009; 73: 898-900.
    • (2009) Neurology , vol.73 , pp. 898-900
    • Schulte, C.1    Synofzik, M.2    Gasser, T.3    Schols, L.4
  • 6
    • 27544440060 scopus 로고    scopus 로고
    • Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins twinkle and twinky
    • Nikali K, Suomalainen A, Saharinen J, et al. Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins twinkle and twinky. Hum Mol Genet 2005; 14: 2981-2990.
    • (2005) Hum Mol Genet , vol.14 , pp. 2981-2990
    • Nikali, K.1    Suomalainen, A.2    Saharinen, J.3
  • 7
    • 67649409167 scopus 로고    scopus 로고
    • Recessive twinkle mutations cause severe epileptic encephalopathy
    • Lonnqvist T, Paetau A, Valanne L, Pihko H. Recessive twinkle mutations cause severe epileptic encephalopathy. Brain 2009; 132 (Part 6): 1553-1562.
    • (2009) Brain , vol.132 , Issue.PART 6 , pp. 1553-1562
    • Lonnqvist, T.1    Paetau, A.2    Valanne, L.3    Pihko, H.4
  • 8
    • 16844382687 scopus 로고    scopus 로고
    • Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations
    • Winterthun S, Ferrari G, He L, et al. Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. Neurology 2005; 64: 1204-1208.
    • (2005) Neurology , vol.64 , pp. 1204-1208
    • Winterthun, S.1    Ferrari, G.2    He, L.3
  • 9
    • 35649024143 scopus 로고    scopus 로고
    • Recessive twinkle mutations in early onset encephalopathy with mtDNA depletion
    • Hakonen AH, Isohanni P, Paetau A, Herva R, Suomalainen A, Lonnqvist T. Recessive twinkle mutations in early onset encephalopathy with mtDNA depletion. Brain 2007; 130 (Part 11): 3032-3040.
    • (2007) Brain , vol.130 , Issue.PART 11 , pp. 3032-3040
    • Hakonen, A.H.1    Isohanni, P.2    Paetau, A.3    Herva, R.4    Suomalainen, A.5    Lonnqvist, T.6
  • 10
    • 20444370205 scopus 로고    scopus 로고
    • POLG mutations and Alpers syndrome
    • Davidzon G, Mancuso M, Ferraris S, et al. POLG mutations and Alpers syndrome. Ann Neurol 2005; 57: 921-923.
    • (2005) Ann Neurol , vol.57 , pp. 921-923
    • Davidzon, G.1    Mancuso, M.2    Ferraris, S.3
  • 11
    • 33745713884 scopus 로고    scopus 로고
    • Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene
    • Horvath R, Hudson G, Ferrari G, et al. Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Brain 2006; 129 (Part 7): 1674-1684.
    • (2006) Brain , vol.129 , Issue.PART 7 , pp. 1674-1684
    • Horvath, R.1    Hudson, G.2    Ferrari, G.3
  • 12
    • 0019521898 scopus 로고
    • Early onset cerebellar ataxia with retained tendon reflexes: a clinical and genetic study of a disorder distinct from Friedreich's ataxia
    • Harding AE. Early onset cerebellar ataxia with retained tendon reflexes: a clinical and genetic study of a disorder distinct from Friedreich's ataxia. J Neurol Neurosurg Psychiatry 1981; 44: 503-508.
    • (1981) J Neurol Neurosurg Psychiatry , vol.44 , pp. 503-508
    • Harding, A.E.1
  • 13
    • 34247150665 scopus 로고    scopus 로고
    • Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood
    • -,534.e1-e6.
    • Sarzi E, Bourdon A, Chretien D, et al. Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood. J Pediatr 2007; 150: 531-534, 534.e1-e6.
    • (2007) J Pediatr , vol.150 , pp. 531-534
    • Sarzi, E.1    Bourdon, A.2    Chretien, D.3
  • 14
    • 57849140614 scopus 로고    scopus 로고
    • Molecular and clinical genetics of mitochondrial diseases due to POLG mutations
    • Wong LJ, Naviaux RK, Brunetti-Pierri N, et al. Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. Hum Mutat 2008; 29: E150-E172.
    • (2008) Hum Mutat , vol.29
    • Wong, L.J.1    Naviaux, R.K.2    Brunetti-Pierri, N.3
  • 15
    • 39749121457 scopus 로고    scopus 로고
    • POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection
    • Engelsen BA, Tzoulis C, Karlsen B, et al. POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection. Brain 2008; 131 (Part 3): 818-828.
    • (2008) Brain , vol.131 , Issue.PART 3 , pp. 818-828
    • Engelsen, B.A.1    Tzoulis, C.2    Karlsen, B.3
  • 16
    • 34250834964 scopus 로고    scopus 로고
    • Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders
    • Hakonen AH, Davidzon G, Salemi R, et al. Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders. Eur J Hum Genet 2007; 15: 779-783.
    • (2007) Eur J Hum Genet , vol.15 , pp. 779-783
    • Hakonen, A.H.1    Davidzon, G.2    Salemi, R.3
  • 17
    • 72449155684 scopus 로고    scopus 로고
    • The unfolding clinical spectrum of POLG mutations
    • Blok MJ, Van den Bosch BJ, Jongen E, et al. The unfolding clinical spectrum of POLG mutations. J Med Genet 2009; 46: 776-785.
    • (2009) J Med Genet , vol.46 , pp. 776-785
    • Blok, M.J.1    Van den Bosch, B.J.2    Jongen, E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.