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Journal of Neurology
Published in: Journal of Neurology 5/2018

01-05-2018 | Neurological Update

Movement disorders in mitochondrial disease

Authors: Roula Ghaoui, Carolyn M. Sue

Published in: Journal of Neurology | Issue 5/2018

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Abstract

Mitochondrial disease presents with a wide spectrum of clinical manifestations that may appear at any age and cause multisystem dysfunction. A broad spectrum of movement disorders can manifest in mitochondrial diseases including ataxia, Parkinsonism, myoclonus, dystonia, choreoathetosis, spasticity, tremor, tic disorders and restless legs syndrome. There is marked heterogeneity of movement disorder phenotypes, even in patients with the same genetic mutation. Moreover, the advent of new technologies, such as next-generation sequencing, is likely to identify novel causative genes, expand the phenotype of known disease genes and improve the genetic diagnosis in these patients. Identification of the underlying genetic basis of the movement disorder is also a crucial step to allow for targeted therapies to be implemented as well as provide the basis for a better understanding of the molecular pathophysiology of the disease process. The aim of this review is to discuss the spectrum of movement disorders associated with mitochondrial disease.
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Metadata
Title
Movement disorders in mitochondrial disease
Authors
Roula Ghaoui
Carolyn M. Sue
Publication date
01-05-2018
Publisher
Springer Berlin Heidelberg
Published in
Journal of Neurology / Issue 5/2018
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI
https://doi.org/10.1007/s00415-017-8722-6

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