A De Novo Mutation in MTND6 Causes Generalized Dystonia in 2 Unrelated Children

Dystonia is often associated with the symmetrical basal ganglia lesions of Leigh syndrome. However, it has also been associated with mitochondrial ND mutations, with or without Leber hereditary optic neuropathy. The m.14459G>A mutation in ND6 causes dystonia with or without familial Leber heredit...

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Detalles Bibliográficos
Autores principales: Kurt, Yasemin Gulcan, Çoku, Jorida, Akman, H. Orhan, Naini, Ali, Lu, Jesheng, Engelstad, Kristin, Hirano, Michio, De Vivo, Darryl C., DiMauro, Salvatore
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2016
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5417276/
https://www.ncbi.nlm.nih.gov/pubmed/28503604
http://dx.doi.org/10.1177/2329048X15627937
Descripción
Sumario:Dystonia is often associated with the symmetrical basal ganglia lesions of Leigh syndrome. However, it has also been associated with mitochondrial ND mutations, with or without Leber hereditary optic neuropathy. The m.14459G>A mutation in ND6 causes dystonia with or without familial Leber hereditary optic neuropathy. We report heteroplasmic 14459G>A mutations in 2 unrelated children with nonmaternally inherited generalized dystonia and showing bilateral magnetic resonance imaging lesions in nucleus pallidus and putamen. Both children have reached their teenage years, and they are intellectually active, despite their motor problems.

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