Mitochondrial Neurodegenerative Disorders II: Ataxia, Dystonia and Leukodystrophies

Abstract

In this chapter, we will consider primary mitochondrial disorders with neurodegeneration manifesting as ataxia, dystonia or leukodystrophy. Ataxia and dystonia represent some of the most frequently reported movement disorders in patients with mitochondrial disease. Other movement disorders observed in patients with primary mitochondrial diseases include parkinsonism, chorea, tics, tremor and restless leg syndrome. Leukodystrophies are an increasingly recognised subgroup of mitochondrial encephalopathies, with molecular causes including defects of oxidative phosphorylation complexes and their assembly, iron-sulphur cluster biosynthesis and mitochondrial translation.