Migraine-like disorder segregating with mtDNA 14484 Leber hereditary optic neuropathy mutation

Neurology

Volumn 60, Issue 4, 2003, Pages 717-719

  Cupini, L M ^a   Massa, R ^a,e   Floris, R ^b,e   Manenti, G ^b   Martini, B ^c   Tessa, A ^d   Nappi, G ^c,f   Bernardi, G ^a,e   Santorelli, F M ^c,d,f  

^a UNIVERSITY OF ROME TOR VERGATA   (Italy)

^b UNIVERSITY OF ROME TOR VERGATA   (Italy)

^c C MONDINO NATIONAL NEUROLOGICAL INSTITUTE   (Italy)

^d BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^e IRCCS FONDAZIONE SANTA LUCIA   (Italy)

^f SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

ADULT; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; FEMALE; GENE MUTATION; GENETIC LINE; HEREDITARY OPTIC ATROPHY; HUMAN; MALE; MIGRAINE; NEUROLOGIC DISEASE; OPTIC NERVE DISEASE; PHENOTYPE; PRIORITY JOURNAL; VISUAL DISORDER;

EID: 0037465366     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000048662.77572.FB     Document Type: Article

References (10)

1. Riordan-Eva P, Sanders MD, Govan GG, Sweeney MG, Da Costa J, Harding AE. The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenetic mitochondrial DNA mutation. Brain 1995;118:319-337.
2. Chalmers RM, Harding AE. A case-control study of Leber's hereditary optic neuropathy. Brain 1996;119:1481-1486.
3. Jun AS, Brown MD, Wallace DC. A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia. Proc Natl Acad Sci USA 1994;91:6206-6210.
4. Nikoskelainen EK, Marttila RJ, Huoponen K, et al. Leber's "plus": neurological abnormalities in patients with Leber's hereditary optic neuropathy. J Neurol Neurosurg Psychiatry 1995;59:160-164.
5. Headache Classification Committee of the International Headache Society. Classification and diagnostic criteria for headache disorders, cranial neuralgias and facial pain. Cephalalgia 1988;8(suppl 7):1-96.
6. Carelli V, Ghelli A, Bucchi L, et al. Biochemical features of mtDNA 14484 (ND6/M64V) point mutation associated with Leber's hereditary optic neuropathy. Ann Neurol 1999;45:320-328.
7. Torroni A, Petrozzi M, D'Urbano L, et al. Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background play a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484. Am J Hum Genet 1997;60:1107-1121.
8. Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM, Howell N. Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet 1999;23:147.
9. Hirano M, Pavlakis S. Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS): current concepts. J Child Neurol 1994;9:4-13.
10. 31P magnetic resonance spectroscopy in patients affected by migraine with aura. Neurology 1992;42:1209-1214.