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Lookup NU author(s): Dr Yi NgORCiD,
Professor Bobby McFarlandORCiD
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© 2023 Elsevier B.V.Mitochondrial dysfunction, especially perturbation of oxidative phosphorylation and adenosine triphosphate (ATP) generation, disrupts cellular homeostasis and is a surprisingly frequent cause of central and peripheral nervous system pathology. Mitochondrial disease is an umbrella term that encompasses a host of clinical syndromes and features caused by in excess of 300 different genetic defects affecting the mitochondrial and nuclear genomes. Patients with mitochondrial disease can present at any age, ranging from neonatal onset to late adult life, with variable organ involvement and neurological manifestations including neurodevelopmental delay, seizures, stroke-like episodes, movement disorders, optic neuropathy, myopathy, and neuropathy. Until relatively recently, analysis of skeletal muscle biopsy was the focus of diagnostic algorithms, but step-changes in the scope and availability of next-generation sequencing technology and multiomics analysis have revolutionized mitochondrial disease diagnosis. Currently, there is no specific therapy for most types of mitochondrial disease, although clinical trials research in the field is gathering momentum. In that context, active management of epilepsy, stroke-like episodes, dystonia, brainstem dysfunction, and Parkinsonism are all the more important in improving patient quality of life and reducing mortality.
Author(s): Ng YS, McFarland R
Editor(s): Younger DS;
Publication type: Book Chapter
Publication status: Published
Book Title: Motor System Disorders, Part I: Normal Physiology and Function and Neuromuscular Disorders
Print publication date: 05/09/2023
Online publication date: 08/08/2023
Acceptance date: 02/04/2023
Series Title: Handbook of Clinical Neurology
Publisher: Elsevier B.V.
Place Published: Amsterdam
PubMed id: 37562887
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