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

Overview

Journal Child Neurol Open

Specialty Neurology

Date 2017 May 16

PMID 28503604

Citations 2

Authors

Yasemin Gulcan Kurt

Jorida Coku

H Orhan Akman

Ali Naini

Jesheng Lu

Kristin Engelstad

Michio Hirano

Darryl C De Vivo

Salvatore DiMauro

Affiliations

Soon will be listed here.

Abstract

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