PERIPHERAL NEUROPATHY IN XERODERMA PIGMENTOSUM KANDA, TAKASHI; ODA, MASAYA; YONEZAWA, MIHOKO; ...

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Authors
KANDA, TAKASHI ; ODA, MASAYA ; YONEZAWA, MIHOKO ; TAMAGAWA, KIMIKO ; ISA, FUMIKO ; HANAKAGO, RYOUICHI ; TSUKAGOSHI, HIROSHI
Appears In
Brain
Subjects
Xeroderma pigmentosum -- Complications; Xeroderma pigmentosum -- Case studies; Xeroderma pigmentosum -- Causes of
Audience
Professional
Summary
Xeroderma pigmentosum is an inherited Mendelian recessive disorder in which the affected individuals are deficient in the repair of damaged DNA. Since a major source of DNA damage results from the exposure of skin to sunlight, the major symptoms of xeroderma pigmentosum are pigment changes, keratoses, and ultimately, multiple skin cancers. However, patients with xeroderma pigmentosum often have nervous system damage as well. Xeroderma pigmentosum exists in at least nine distinct forms; type A is both the most serious and the most common in Japan. In a careful quantification of nerve damage in autopsy material from two cases in Japan, investigators observed that although the motor nerves were severely affected, the sensory nerves were even more severely affected. The cause of this difference between the motor and sensory nerves is not known, and the reason for the nerve damage in this disease is not clear. The wide extent of the observed damage is consistent with the prevailing notion that the nerve damage observed in type A xeroderma pigmentosum is progressive. Ultraviolet light from the sun does not reach the peripheral nerves as it does the skin, and careful avoidance of sunlight has no effect on the development of the nerve damage. However, the neurological damage revealed by the tabulation of changes seen in these cases is similar to that observed in another disease, ataxia telangiectasia. Since ataxia telangiectasia also involves defective DNA repair, it seems reasonable to suggest that the observed neuropathy in both diseases may be a direct result of this defect. (Consumer Summary produced by Reliance Medical Information, Inc.)
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http://trove.nla.gov.au/work/239200
Work ID
239200

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