Clinically Asymptomatic Xeroderma pigmentosum Neurological Disease in an Adult: Evidence for a Neurodegeneration in Later Life Caused by Defective DNA Repair
作者:
Jay H. Robbins,
Roger A. Brumback,
Alan N. Moshell,
期刊:
European Neurology
(Karger Available online 1993)
卷期:
Volume 33,
issue 3
页码: 188-190
ISSN:0014-3022
年代: 1993
DOI:10.1159/000116932
出版商: S. Karger AG
关键词: Xeroderma pigmentosum;Neurodegeneration;DNA repair;Peripheral neuropathy;Sensorineural deafness
数据来源: Karger
摘要:
Xeroderma pigmentosum is a genetically heterogeneous disease caused by DNA repair defects resulting in skin cancer and, in some patients, a primary neuronal degeneration which has in all previous reports become symptomatic prior to age 21 years. A 47-year-old xeroderma pigmentosum patient is described who, although neurologically asymptomatic, has sensorineural hearing loss together with clinical signs and electrophysiologic evidence of a developing peripheral neuropathy. This case suggests that defective DNA repair may cause neurodegeneration in adults as well as in children.
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