[Leber "plus" disease: optic neuropathy, parkinsonian syndrome and supranuclear ophthalmoplegia].
A 34-year-old right handed man presented with a bilateral subacute optical neuropathy associated with cervical dystonia, parkinsonism and supranuclear ophtalmoplegia. Magnetic resonance imaging showed in T2 increased intensity of signal in the dorsal mesencephalum and pons as well as in dorsal part of striata. The 3,460 mutation of mitochondrial DNA was found in a blood sample. This observation adds to the variability of presentation of Leber's "plus".
Services de Neurologie, Hôpital neurologique, Lyon.
S
S
Thobois
A
A
Vighetto
M
M
Grochowicki
C
C
Godinot
E
E
Broussolle
G
G
Aimard
D000328:Adult; D004272:DNA, Mitochondrial; D006801:Humans; D008297:Male; D009154:Mutation; D009886:Ophthalmoplegia / Q000235:genetics*; D015418:Optic Atrophies, Hereditary / Q000235:genetics*; D010302:Parkinson Disease, Secondary / Q000235:genetics*
D004272:DNA, Mitochondrial