title: White Matter Changes in Two Leber's Hereditary Optic Neuropathy Pedigrees: 12-Year Follow-Up.
abstract: We are presenting two Leber's hereditary optic neuropathy (LHON) pedigrees with abnormal magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (H-MRS) findings but without neurological manifestation associated with LHON. The study included 14 LHON patients and 41 asymptomatic family members from 12 genealogically unrelated families. MRI showed white matter involvement and H-MRS exhibited metabolic anomalies within 12 LHON families. Main outcome measures were abnormal MRI and H-MRS findings in two pedigrees. MRI of the proband of the first pedigree showed a single demyelinating lesion in the right cerebellar hemisphere, while the proband of the second family displayed multiple supratentorial and infratentorial lesions, compatible with the demyelinating process, and both the absolute choline (Cho) concentration and Cho/creatinine ratio were increased. MRI and H-MRS profiles of both affected and unaffected mitochondrial DNA mutation carriers suggest more widespread central nervous involvement in LHON. Although even after 12 years our patients did not develop neurological symptoms, MRI could still be used to detect possible changes during the disease progression.
authors.affiliation: Clinic of Neurology and Psychiatry for Children and Youth, Belgrade, Serbia.
authors.forename: Jasna
authors.initials: J
authors.lastname: Jančić
authors.forename: Ivana
authors.initials: I
authors.lastname: Dejanović
authors.forename: Saša
authors.initials: S
authors.lastname: Radovanović
authors.forename: Jelena
authors.initials: J
authors.lastname: Ostojić
authors.forename: Duško
authors.initials: D
authors.lastname: Kozić
authors.forename: Milica
authors.initials: M
authors.lastname: Đurić-Jovičić
authors.forename: Janko
authors.initials: J
authors.lastname: Samardžić
authors.forename: Mila
authors.initials: M
authors.lastname: Ćetković
authors.forename: Vladimir
authors.initials: V
authors.lastname: Kostić
mesh_terms: D000328:Adult; D000368:Aged; D002794:Choline; D003404:Creatinine; D004272:DNA, Mitochondrial / Q000235:genetics; D003711:Demyelinating Diseases / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D005260:Female; D005938:Glucocorticoids / Q000008:administration & dosage; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D028361:Mitochondrial Diseases / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D029242:Optic Atrophy, Hereditary, Leber / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D010375:Pedigree; D017354:Point Mutation; D066244:Proton Magnetic Resonance Spectroscopy; D020551:Pulse Therapy, Drug; D014792:Visual Acuity / Q000502:physiology; D066127:White Matter / Q000473:pathology*
chemical_list: D004272:DNA, Mitochondrial; D005938:Glucocorticoids; D003404:Creatinine; D002794:Choline