@inbook{5847a5c039774b4ea578c9fa7bc149f8,
title = "Mitochondrial ataxias",
abstract = "Ataxia is one of the most frequent symptoms of mitochondrial disease. In most cases it occurs as part of a syndromic disorder and the combination of ataxia with other neurologic involvement such as epilepsy is common. Mitochondrial ataxias can be caused by disturbance of the cerebellum and its connections, involvement of proprioception (i.e., sensory ataxia) or a combination of both (spinocerebellar). There are no specific features that define an ataxia as mitochondrial, except perhaps the tendency for it to occur together with involvement of multiple other sites, both in the nervous system and outside. In this review we will concentrate on the mitochondrial disorders in which ataxia is a prominent and consistent feature and focus on the clinical features and genetic causes.",
keywords = "cerebellum, electron transport chain, heteroplasmy, mitochondria, oxidative phosphorylation",
author = "Vernon, {Hilary J} and Bindoff, {Laurence A.}",
year = "2018",
month = jan,
day = "1",
doi = "10.1016/B978-0-444-64189-2.00009-3",
language = "English (US)",
series = "Handbook of Clinical Neurology",
publisher = "Elsevier B.V.",
pages = "129--141",
booktitle = "Handbook of Clinical Neurology",
}