Peripheral neuropathy in mitochondrial disorders

Research output: Contribution to journalArticle

40 Citations (Scopus)

Abstract

Why is peripheral neuropathy common but mild in many mitochondrial disorders, and why is it, in some cases, the predominant or only manifestation? Although this question remains largely unanswered, recent advances in cellular and molecular biology have begun to clarify the importance of mitochondrial functioning and distribution in the peripheral nerve. Mutations in proteins involved in mitochondrial dynamics (ie, fusion and fission) frequently result in a Charcot-Marie-Tooth phenotype. Peripheral neuropathies with different phenotypic presentations occur in mitochondrial diseases associated with abnormalities in mitochondrial DNA replication and maintenance, or associated with defects in mitochondrial respiratory chain complex V. Our knowledge of mitochondrial disorders is rapidly growing as new nuclear genes are identified and new phenotypes described. Early diagnosis of mitochondrial disorders, essential to provide appropriate genetic counselling, has become crucial in a few treatable conditions. Recognising and diagnosing an underlying mitochondrial defect in patients presenting with peripheral neuropathy is therefore of paramount importance.

Original languageEnglish
Pages (from-to)1011-1024
Number of pages14
JournalThe Lancet Neurology
Volume12
Issue number10
DOIs
Publication statusPublished - Oct 2013

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Mitochondrial Diseases
Peripheral Nervous System Diseases
Mitochondrial Dynamics
Phenotype
Genetic Counseling
Electron Transport
DNA Replication
Mitochondrial DNA
Peripheral Nerves
Cell Biology
Molecular Biology
Early Diagnosis
Tooth
Maintenance
Mutation
Genes
Proteins

ASJC Scopus subject areas

  • Clinical Neurology

Cite this

Peripheral neuropathy in mitochondrial disorders. / Pareyson, Davide; Piscosquito, Giuseppe; Moroni, Isabella; Salsano, Ettore; Zeviani, Massimo.

In: The Lancet Neurology, Vol. 12, No. 10, 10.2013, p. 1011-1024.

Research output: Contribution to journalArticle

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