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Leigh‐like encephalopathy complicating Leber's hereditary optic neuropathy
Author(s) -
Funalot Benoît,
Reynier Pascal,
Vighetto Alain,
Ranoux Danièle,
Bonnefont JeanPaul,
Godinot Catherine,
Malthièry Yves,
Mas JeanLouis
Publication year - 2002
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.10299
Subject(s) - leber's hereditary optic neuropathy , optic neuropathy , encephalopathy , point mutation , medicine , mitochondrial dna , mitochondrial disease , mutation , optic nerve , ophthalmology , genetics , biology , gene
Abstract Leber's hereditary optic neuropathy is a mitochondrial disease caused by point mutations in mitochondrial DNA. It usually presents as severe bilateral visual loss in young adults. We report on a neurological disorder resembling Leigh syndrome, which complicated Leber's hereditary optic neuropathy in three unrelated male patients harboring mitochondrial DNA mutations at nucleotide positions 3460, 14459, and 14484, respectively. This Leigh‐like encephalopathy appears to be associated with a much more severe outcome than isolated Leber's hereditary optic neuropathy.