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

Child Neurology Open
Yasemin Gulcan KurtSalvatore DiMauro

Abstract

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.

References

Oct 1, 1987·Annals of Neurology·S DiMauroS D Johnsen
Jan 10, 2002·European Journal of Human Genetics : EJHG·K RavnM Schwartz
Oct 2, 2003·Annals of Neurology·Abelardo SolanoJulio Montoya
Dec 20, 2003·Journal of Medical Genetics·S LebonA Munnich
Jan 22, 2004·American Journal of Medical Genetics. Part a·Mark A TarnopolskyBrian H Robinson
Jan 22, 2004·American Journal of Medical Genetics. Part a·Andrea GropmanLee-Jun C Wong
May 31, 2007·Brain : a Journal of Neurology·Edoardo MalfattiMassimo Zeviani
Aug 29, 2007·Neurology·R McFarlandR W Taylor
Mar 17, 2015·Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology·Gregor Brecl JakobKai Bötzel
Jul 1, 2015·Neurology. Clinical Practice·Brian D Berman, H A Jinnah

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Citations

Nov 10, 2017·Child Neurology Open·Josef Finsterer, Sinda Zarrouk-Mahjoub
Mar 30, 2021·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Xiaolin YuChuanzhu Yan

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Methods Mentioned

BETA
biopsies
biopsy
PCR

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