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Updated: Sep 25, 2025

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
Published on: February 10, 2023
Mitochondrial Ataxias: Molecular Classification and Clinical Heterogeneity
Piervito Lopriore1, Valentina Ricciarini1, Gabriele Siciliano1
1Neurological 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.
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