Mitochondrial Ataxias: Molecular Classification and Clinical Heterogeneity

Piervito Lopriore; Valentina Ricciarini; Gabriele Siciliano; Michelangelo Mancuso; Vincenzo Montano

doi:10.3390/neurolint14020028

Mitochondrial Ataxias: Molecular Classification and Clinical Heterogeneity

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

Authors

Piervito Lopriore¹, Valentina Ricciarini¹, Gabriele Siciliano¹, Michelangelo Mancuso¹, Vincenzo Montano¹

Affiliation

¹ Neurological Institute, Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, Italy.

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.

Publication types

Review