Mitochondrial ataxia - Unravelling the puzzle.
| Autor: | Pandita, Neha, Ganguly, Jacky, Kumar, Hrishikesh |
|---|---|
| Předmět: |
OPTIC nerve diseases
LEIGH disease UBIQUINONES ATAXIA MITOCHONDRIA RETINITIS pigmentosa SPINOCEREBELLAR ataxia DNA CEREBELLAR ataxia ENERGY metabolism METABOLISM EPILEPSY KEARNS-Sayre syndrome DNA replication MITOCHONDRIAL pathology GENETIC mutation NEURORADIOLOGY PHENOTYPES GENETICS MITOCHONDRIAL encephalomyopathies SYMPTOMS |
| Zdroj: | Annals of Movement Disorders; May-Aug2024, Vol. 7 Issue 2, p78-87, 10p |
| Abstrakt: | Primary mitochondrial diseases (PMDs) can be caused by a defect in any of the mitochondrial metabolic pathways, due to mitochondrial or nuclear DNA mutations, or occurring de novo. Ataxia is one of the most common presentations in mitochondrial disorders and may present as pure cerebellar, sensory or mixed ataxia. Understanding the basic mitochondrial physiological mechanisms, the classification of mitochondrial ataxias, phenotypic heterogeneity, and respective diagnostic evaluation methods is paramount to recognize this disorder. We conducted a comprehensive literature search using the PubMed database before July 1, 2024, to synthesize this narrative review, focusing on various aspects of primary mitochondrial disorders, particularly those associated with ataxia. [ABSTRACT FROM AUTHOR] |
| Databáze: | Complementary Index |
| Externí odkaz: |
|