Invited Review: Peripheral neuropathies associated with DNA repair disorders-Article

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Peripheral neuropathies are a common manifestation of DNA repair disorders, which are genetic defects that impair the body's ability to repair DNA damage. These disorders can lead to a cascade of premature aging and affect multiple organs, including the nervous system. Different DNA repair disorders can result in various types of peripheral neuropathies, such as demyelinating or axonal polyneuropathies. For example, Cockayne syndrome is associated with demyelinating polyneuropathies, while xeroderma pigmentosum is linked to axonal polyneuropathies. Other DNA repair disorders, such as trichothiodystrophy, Werner syndrome, and ataxia-telangiectasia, are also associated with neuropathies. The underlying mechanisms for the vulnerability of the peripheral nerves to DNA repair impairments are not fully understood and require further exploration. It is also unclear why different DNA repair disorders manifest with different types of neuropathy and why neuropathy is not universally present in all cases of these disorders. Longitudinal physiological monitoring, such as electrodiagnostic studies, may provide valuable data on the progression of these neuropathies and serve as outcome measures for future clinical trials of potential treatments, including gene replacement therapies. Overall, a better understanding of the neuropathies associated with DNA repair disorders can contribute to the development of effective therapies for these rare conditions.

Keywords

Peripheral neuropathies

DNA repair disorders

genetic defects

premature aging

nervous system

demyelinating polyneuropathies

axonal polyneuropathies

Cockayne syndrome

xeroderma pigmentosum