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Semin Neurol 2014; 34(03): 321-340
DOI: 10.1055/s-0034-1386770
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Mitochondrial Disorders Affecting the Nervous System

R.H. Haas
1   Department of Neurosciences, University of California San Diego, La Jolla, California
2   Rady Children's Hospital San Diego, San Diego, California
3   Department of Pediatrics, University of California San Diego, La Jolla, California
4   Metabolic & Mitochondrial Disease Center, University California San Diego, San Diego, California
,
Z. Zolkipli
1   Department of Neurosciences, University of California San Diego, La Jolla, California
2   Rady Children's Hospital San Diego, San Diego, California
4   Metabolic & Mitochondrial Disease Center, University California San Diego, San Diego, California
› Author Affiliations
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Publication History

Publication Date:
05 September 2014 (online)

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Abstract

Mitochondrial diseases are multiorgan system disorders and the brain is the most commonly affected organ. The high-energy requirement of the brain leaves it vulnerable to energy failure. All components of the neuraxis including muscle, the neuromuscular junction, peripheral nerve, spinal cord, and brain can be affected. Genetic mitochondrial disease can be caused by nuclear gene defects and mitochondrial DNA defects. Mitochondrial medicine is rapidly expanding as exome and mtDNA sequencing is identifying new gene defects on a daily basis. This review will focus on primary genetic mitochondrial diseases that impair energy production and affect the nervous system, pathophysiology of disease, classical phenotypes, diagnosis, and treatment.

Keywords

mitochondria - central nervous system - muscle - peripheral nerve - spinal cord - mitochondrial DNA - nuclear DNA - oxidative phosphorylation
 

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