Mitochondrial Parkinsonism: A Practical Guide to Genes and Clinical Diagnosis.
Mov Disord Clin Pract
; 11(8): 948-965, 2024 Aug.
Article
en En
| MEDLINE
| ID: mdl-38943319
ABSTRACT
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 involvement, parkinsonism is one of the most common movement disorders in PMDs.METHODS:
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.RESULTS:
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-encoded genes (ie, POLG, TWNK, SPG7, and OPA1) and, more rarely, mtDNA mutations, are responsible for mitochondrial parkinsonism. Progressive external opthalmoplegia and optic atrophy may guide genetic etiology identification.CONCLUSION:
A comprehensive deep-phenotyping approach is needed to reach a diagnosis of mitochondrial parkinsonism, which lacks distinctive clinical features and exemplifies the intricate genotype-phenotype interplay of PMDs.Palabras clave
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
ADN Mitocondrial
/
Trastornos Parkinsonianos
/
Enfermedades Mitocondriales
Límite:
Humans
Idioma:
En
Revista:
Mov Disord Clin Pract
Año:
2024
Tipo del documento:
Article
País de afiliación:
Italia