title: Leber's hereditary optic neuropathy associated with a multiple-sclerosis-like picture in a man.
abstract: A 35-year-old young man displayed Leber's optic neuropathy (LHON) due to T14484C and multiple sclerosis (MS) phenotype that was dominated by symptoms and signs of spinal cord impairment. Magnetic resonance imaging (MRI) revealed demyelinating lesions extending from D6 to D11 in the spinal cord with gadolinium enhancement, while only three linear demyelinating lesions were seen on brain MRI. In the literature, a major involvement of the spinal cord was already reported in three of four male patients with the 14484 LHON mutation who developed MS, but the reasons of this peculiar association remain unknown, and further research in this area is needed.
authors.affiliation: 1Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy.
authors.forename: Antonella
authors.initials: A
authors.lastname: La Russa
authors.forename: Rita
authors.initials: R
authors.lastname: Cittadella
authors.forename: Virginia
authors.initials: V
authors.lastname: Andreoli
authors.forename: Paola
authors.initials: P
authors.lastname: Valentino
authors.forename: Francesca
authors.initials: F
authors.lastname: Trecroci
authors.forename: Manuela
authors.initials: M
authors.lastname: Caracciolo
authors.forename: Olivier
authors.initials: O
authors.lastname: Gallo
authors.forename: Antonio
authors.initials: A
authors.lastname: Gambardella
authors.forename: Aldo
authors.initials: A
authors.lastname: Quattrone
mesh_terms: D000328:Adult; D001921:Brain / Q000473:pathology; D003287:Contrast Media; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000032:analysis; D020022:Genetic Predisposition to Disease; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009103:Multiple Sclerosis / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D029242:Optic Atrophy, Hereditary, Leber / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D010641:Phenotype; D013116:Spinal Cord / Q000473:pathology
chemical_list: D003287:Contrast Media; D004272:DNA, Mitochondrial