Purpose: The purpose of this statement is to review the literature regarding mitochondrial
disease and to provide recommendations for optimal diagnosis and treatment. This …

Mitochondrial DNA (mt DNA) encodes a subset of the genes which are responsible for
oxidative phosphorylation. Pathogenic mutations in the human mt DNA are often …

Young-onset dementia is a neurologic syndrome that affects behavior and cognition of
patients younger than 65 years of age. Although frequently misdiagnosed, a systematic …

Ataxia is increasingly being recognized as a cardinal manifestation in primary mitochondrial
diseases (PMDs) in both paediatric and adult patients. It can be caused by disruption of …

COQ8A-ataxia is a mitochondrial disease in which a defect in coenzyme Q10 synthesis
leads to dysfunction of the respiratory chain. The disease is usually present as childhood …

Myoclonic epilepsy associated with ragged red fibers (MERRF) is a rare mitochondrial
disorder. Diagnostic criteria for MERRF include typical manifestations of the disease …

White matter involvement has recently been recognized as a common feature in patients
with multisystem mitochondrial disorders that may be caused by molecular defects in either …

Mitochondrial diseases are a group of rare heterogeneous genetic disorders caused by total
or partial mitochondrial dysfunction. They can be caused by mutations in nuclear or …

The objective of the study was to better characterize the clinical phenotype associated with
the A8344G “MERRF” mutation of mitochondrial DNA. Fifteen mutated patients were …

Among the hereditary cerebellar ataxias (CAs), there are at least 36 different forms of
autosomal dominant cerebellar ataxia (ADCAs), 20 autosomal recessive cerebellar ataxias …