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Review
. 2022 Apr 2;14(2):337-356.
doi: 10.3390/neurolint14020028.

Mitochondrial Ataxias: Molecular Classification and Clinical Heterogeneity

Piervito Lopriore  1 , Valentina Ricciarini  1 , Gabriele Siciliano  1 , Michelangelo Mancuso  1 , Vincenzo Montano  1
Affiliations
Review

Mitochondrial Ataxias: Molecular Classification and Clinical Heterogeneity

Piervito Lopriore et al. Neurol Int. .

Abstract

Ataxia is increasingly being recognized as a cardinal manifestation in primary mitochondrial diseases (PMDs) in both paediatric and adult patients. It can be caused by disruption of cerebellar nuclei or fibres, its connection with the brainstem, or spinal and peripheral lesions leading to proprioceptive loss. Despite mitochondrial ataxias having no specific defining features, they should be included in hereditary ataxias differential diagnosis, given the high prevalence of PMDs. This review focuses on the clinical and neuropathological features and genetic background of PMDs in which ataxia is a prominent manifestation.

Keywords: Kearns-Sayre syndrome; MERRF; NARP; POLG1-related ataxia; ataxia; mitochondrial diseases.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Diagnostic algorithm for mitochondrial ataxias. CNV/SV: copy number variants/structural variations. * In the case of a dominant family history, firstly screen for SCA 1, 2, 3, 6, 8, 17 and dentatorubral-pallidoluysian atrophy. In the case of a suspected recessive disease firstly screen for FRDA, ataxia-telangiectasia, spastic ataxias, POLG1 mutations and oculomotor apraxia type 1 and 2.
See this image and copyright information in PMC

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