Leber hereditary optic neuropathy plus dystonia, and transverse myelitis due to double mutations in MT-ND4 and MT-ND6.
J Neurol
; 267(3): 823-829, 2020 Mar.
Article
em En
| MEDLINE
| ID: mdl-31776719
ABSTRACT
Leber hereditary optic neuropathy (LHON) typically presents as painless central or centrocecal scotoma and is due to maternally inherited mitochondrial DNA (mtDNA) mutations. Over 95% of LHON cases are caused by one of three mtDNA "common" point mutations m.3460G>A, m.11778G>A, or m.14484T>C, which are all in genes encoding structural subunits of complex I of the respiratory chain. Intriguing features of LHON include incomplete penetrance, tissue specificity, and male predominance, indicating that additional genetic or environmental factors are modulating the phenotypic expression of the pathogenic mtDNA mutations. However, since its original description as a purely ophthalmological disorder, LHON has also been linked to multisystemic conditions with variable neurological, cardiac, and skeletal abnormalities. Although double "common" mutations have been reported to cause LHON and LHON-plus, they are extremely rare. Here, we present a patient with an unusual double point mutation (m.11778 G>A and m.14484T>C) with a multisystemic LHON-plus phenotype characterized by optic neuropathy, ptosis, ataxia, dystonia, dysarthria, and recurrent extensive transverse myelitis.
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Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Atrofia Óptica Hereditária de Leber
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Distonia
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Mielite Transversa
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NADH Desidrogenase
Tipo de estudo:
Etiology_studies
Limite:
Adult
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Humans
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Male
Idioma:
En
Revista:
J Neurol
Ano de publicação:
2020
Tipo de documento:
Article
País de afiliação:
Estados Unidos