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The neurology of mitochondrial DNA disease

Lookup NU author(s): Professor Bobby McFarlandORCiD, Professor Robert Taylor, Emeritus Professor Doug Turnbull

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Abstract

In this era of "the gene and the genome", communication of complex genetic information to individuals and their families is becoming an increasingly common but difficult task for the clinician. This problem is particularly evident in the rapidly evolving field of mitochondrial disease: the clinician is faced with a diversity of clinical presentations and myriad mutations with, for many, only a loose relation between genotype and phenotype. The aim of this review is to familiarise the clinician with the main clinical syndromes encountered in practice, and to provide an overview of current concepts of mitochondrial genetics, including recent advances in molecular aetiology. In addition, we have included clinical guidance on the investigation and management of patients with suspected or proven mitochondrial disease based on our own experience over the past decade.

Publication metadata

Author(s): McFarland R; Taylor RW; Turnbull DM

Publication type: Review

Publication status: Published

Journal: Lancet Neurology

Year: 2002

Volume: 1

Issue: 6

Pages: 343-351

ISSN (print): 1474-4422

ISSN (electronic): 1474-4465

URL: http://dx.doi.org/10.1016/S1474-4422(02)00159-X

DOI: 10.1016/S1474-4422(02)00159-X

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