[Leber's hereditary optic atrophy: neurological and other non-optic appearances].
Comparing to other mitochondrial diseases, multisystemic lesions in Leber's hereditary optic atrophy (LHOA) occur less frequently. However, in some cases there are concomitant manifestations, especially neurological ones. Out of thirteen patients examined in the study, 5 exhibited MRI-detected neurological symptoms and changes, which may have concern to the underlying disease, namely LHOA caused by 11778A mutation. Literature and author's own data on neurological spectrum of LHOA and its possible relation to multiple sclerosis are summarized. A rare combination of LHOA caused by 14484C mutation and diabetes mellitus, described first-ever in the present study, is emphasized.
Rudenskaia
G E
GE
Zakharova
E Iu
EIu
Adarcheva
L S
LS
Mikhaĭlova
E N
EN
Karlova
I Z
IZ
D000293:Adolescent; D000328:Adult; D004252:DNA Mutational Analysis; D048909:Diabetes Complications; D005074:Evoked Potentials, Visual / Q000502:physiology; D005260:Female; D015870:Gene Expression / Q000235:genetics*; D006801:Humans; D008133:Long QT Syndrome / Q000150:complications*; D008297:Male; D029242:Optic Atrophy, Hereditary, Leber / Q000150:complications* / Q000235:genetics* / Q000503:physiopathology; D017354:Point Mutation / Q000235:genetics*; D014792:Visual Acuity / Q000502:physiology; D014927:Wolff-Parkinson-White Syndrome / Q000150:complications*