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They can result from mutations in either nuclear DNA (nDNA) or mitochondrial DNA (mtDNA). These disorders are multisystemic and mainly affect high energy\u2010demanding tissues, such as muscle and the central nervous system (CNS). Among many clinical features of CNS involvement, parkinsonism is one of the most common movement disorders in PMDs.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>This review provides a pragmatic educational overview of the most recent advances in the field of mitochondrial parkinsonism, from pathophysiology and genetic etiologies to phenotype and diagnosis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>mtDNA maintenance and mitochondrial dynamics alterations represent the principal mechanisms underlying mitochondrial parkinsonism. It can be present in isolation, alongside other movement disorders or, more commonly, as part of a multisystemic phenotype. Mutations in several nuclear\u2010encoded genes (ie, <jats:italic>POLG<\/jats:italic>, <jats:italic>TWNK<\/jats:italic>, <jats:italic>SPG7<\/jats:italic>, and <jats:italic>OPA1<\/jats:italic>) and, more rarely, mtDNA mutations, are responsible for mitochondrial parkinsonism. Progressive external opthalmoplegia and optic atrophy may guide genetic etiology identification.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>A comprehensive deep\u2010phenotyping approach is needed to reach a diagnosis of mitochondrial parkinsonism, which lacks distinctive clinical features and exemplifies the intricate genotype\u2010phenotype interplay of PMDs.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mdc3.14148","type":"journal-article","created":{"date-parts":[[2024,6,29]],"date-time":"2024-06-29T02:34:31Z","timestamp":1719628471000},"page":"948-965","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Mitochondrial Parkinsonism: A Practical Guide to Genes and Clinical Diagnosis"],"prefix":"10.1002","volume":"11","author":[{"given":"Piervito","family":"Lopriore","sequence":"first","affiliation":[{"name":"Unit of Neurology, Department of Clinical and Experimental Medicine University of 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