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Movement disorders in mitochondrial disease

  • Neurological Update
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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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Abbreviations

mtDNA:

Mitochondrial DNA

nDNA:

Nuclear DNA

COX:

Cytochrome c oxidase

CoQ10:

Coenzyme Q10

MERRF:

Myoclonus epilepsy with ragged-red fibers

MELAS:

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes

PEO:

Progressive external ophthalmoplegia

LS:

Leigh syndrome

POLG:

Polymeraseγ-1

KSS:

Kearns–Sayre syndrome

NARP:

Neuropathy, ataxia and retinitis pigmentosa

SANDO:

Sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO)

DDP1:

Deafness dystonia protein

AHS:

Alpers–Huttenlocher syndrome

MEMSA:

Myoclonic epilepsy myopathy sensory ataxia

ANS:

Ataxia neuropathy spectrum disorders

LHON:

Leber’s hereditary optic neuropathy

IOSCA:

Infantile-onset spinocerebellar ataxia

MEGDEL:

3-Methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome

SPAX3:

Autosomal recessive spastic ataxia-3

ARSACS:

Autosomal recessive spastic ataxia of the Charlevoix–Saguenay type

MIRAS:

Mitochondrial inherited recessive ataxia syndrome

NBIA4:

Neurodegeneration with brain iron accumulation-4

PKAN:

Pantothenate kinase-associated degeneration

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Author information

Authors and Affiliations

  1. Department of Neurology, Royal Adelaide Hospital, Adelaide, SA, Australia

    Roula Ghaoui

  2. Department of Neurogenetics, Kolling Institute, Royal North Shore Hospital, University of Sydney, Sydney, NSW, Australia

    Carolyn M. Sue

Authors
  1. Roula Ghaoui
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  2. Carolyn M. Sue
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Correspondence to Carolyn M. Sue.

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Ghaoui, R., Sue, C.M. Movement disorders in mitochondrial disease. J Neurol 265, 1230–1240 (2018). https://doi.org/10.1007/s00415-017-8722-6

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  • DOI: https://doi.org/10.1007/s00415-017-8722-6

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