Migraine-like disorder segregating with mtDNA 14484 Leber hereditary optic neuropathy mutation.
The authors report neurologic features in a large family harboring the mitochondrial DNA (mtDNA) mutation T14484C associated with Leber hereditary optic neuropathy (LHON). In the maternal line the mtDNA mutation was associated with optic neuropathy or migraine with aura or without aura and transient neurologic/visual disturbances. The segregation of familiar cases of migraine and LHON mutation broadens the clinical phenotype associated with a primary LHON mutation.
Cupini
L M
LM
Clinica Neurologica, Ospedale S. Eugenio, Università di Roma Tor Vergata, Rome, Italy. lecupini@tin.it
Massa
R
R
Floris
R
R
Manenti
G
G
Martini
B
B
Tessa
A
A
Nappi
G
G
Bernardi
G
G
Santorelli
F M
FM
D000293:Adolescent; D000328:Adult; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D018450:Disease Progression; D005260:Female; D006801:Humans; D007558:Italy / Q000208:ethnology; D008297:Male; D008875:Middle Aged; D008881:Migraine Disorders / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D029242:Optic Atrophy, Hereditary, Leber / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D014786:Vision Disorders / Q000235:genetics
D004272:DNA, Mitochondrial