文档介绍：MITOCHONDRIAL DISORDERS OF THE NERVOUS SYSTEM:
CLINICAL, BIOCHEMICAL, AND MOLECULAR
IC FEATURES
Dominic Thyagarajan 1
Department of Neurology
Flinders Medical Centre
Bedford Park, South Australia 5042, Australia
Edward Byrne
Department of Neurology
University of Melbourne
Melbourne, Australia
I. Introduction
II. Historical Considerations
III. ics and Pedigree Studies
IV. Clinical Features
V. Important Clinical Questions
A. Uneven Segregation of Mutant and Wild-Type mtDNA
B. Interaction of mtDNA Mutation with ic Background
C. Different Energy Requirements of Tissues
VI. Major Mitochondrial Syndromes
A. Progressive Limb Myopathy without CPEO
B. Recurrent Myoglobinuria
C. Chronic Progressive External Ophthalmoplegia Syndromes
D. KSS and Other CPEO Syndromes
E. Neuropathy
E Encephalomyopathies
VII. Biochemical Features
A. Complex I Deficiency
B. Complex II Deficiency
C. Complex IV Deficiency
D. Cytochrome b Deficiency
E. Complex V Deficiency
E Coenzyme Q Deficiency
VIII. Diagnostic Approaches
A. Initial Approach
B. Mitochondrial Disease Workup
C. Summary
IX. Treatment of Mitochondrial Disorders
A. Physical and Supportive Therapies
1Author to whom correspondence should be addressed.
INTERNATIONAL REVIEW OF 93 Copyright 2002, Elsevier Science (USA).
NEUROBIOLOGY, VOL, 53 All rights reserved.
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THYAGARAJANAND BYRNE
B. MetabolicTherapies
C. Miscellaneous
D. Gene Therapy
References
I. Introduction
"Mitochondrial medicine," a term coined by one of the founders of
the field, Rolf Luft, has shifted from the study of a few unusual metabolic
disorders affecting muscle and brain to central biochemical and ic
dysfunction in important human disease processes (Luft, 1994; Morgan-
Hughes, 1994; Leonard and Schapira, 2000a,b). Knowledge of normal
mitochondrial function applied to human disease permitted this evolutio