Article
Mitochondrial Parkinsonism: A Practical Guide to Genes and Clinical Diagnosis.
Movement disorders clinical practice - 1 Aug 2024
Lopriore Piervito, Palermo Giovanni, Meli Adriana, Bellini Gabriele, Benevento Elena, Montano Vincenzo, Siciliano Gabriele, Mancuso Michelangelo, Ceravolo Roberto
Abstract excerpt
BACKGROUND: Primary mitochondrial diseases (PMDs) are the most common inborn errors of energy metabolism, with a combined prevalence of 1 in 4300. They can result from mutations in either nuclear DNA (nDNA) or mitochondrial DNA (mtDNA). These disorders are multisystemic and mainly affect high energy-demanding tissues, such as muscle and the central nervous system (CNS). Among many clinical features of CNS...
Topics
- Humans
- Parkinsonian Disorders
- Mitochondrial Diseases
- DNA, Mitochondrial
- Mutation