Abstract
Xeroderma pigmentosum (XP) is an autosomal recessive, neurocutaneous disorder characterized by sunlight-induced skin cancers and defective DNA repair. Many XP children develop a primary neuronal degeneration. We describe 2 unusual XP patients who had a delayed onset of XP neurological disease. Somatic cell genetic studies indicated that they have the same defective DNA repair gene and are both in XP complementation group A. These 2 patients, together with a group A patient previously reported from London, establish as a distinct clinical entity the late onset type of the juvenile onset form of XP neurological disease. The functional capacity of these patients' cultured fibroblast strains to survive after treatment with ultraviolet radiation indicates that their DNA repair defect is less severe than that of typical group A patients who have a more severe neurodegeneration with an earlier symptomatic onset. The premature death of nerve cells in XP patients (which is presumably due to their inherited defects in DNA repair mechanisms) suggests that normal repair of damaged DNA in neurons is required to maintain integrity of the human nervous system.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 1335-1361 |
| Number of pages | 27 |
| Journal | Brain |
| Volume | 114 |
| Issue number | 3 |
| State | Published - Jun 1991 |
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ASJC Scopus subject areas
- Neuroscience(all)
- Statistics, Probability and Uncertainty
- Applied Mathematics
- Mathematics(all)
- Statistics and Probability
- Agricultural and Biological Sciences (miscellaneous)
- Clinical Neurology
Cite this
Neurological disease in xeroderma pigmentosum : Documentation of a late onset type of the juvenile onset form. / Robbins, Jay H.; Brumback, Roger A.; Mendiones, Marlene; Barrett, Susanna F.; Carl, James R.; Cho, Sechin; Denckla, Martha Bridge; Ganges, Mary B.; Gerber, Lynn H.; Guthrie, Richard A.; Meer, Jacob; Moshell, Alan N.; Polinsky, Ronald J.; Ravin, Paula D.; Sonies, Barbara C.; Tarone, Robert E.
In: Brain, Vol. 114, No. 3, 06.1991, p. 1335-1361.Research output: Contribution to journal › Article
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TY - JOUR
T1 - Neurological disease in xeroderma pigmentosum
T2 - Documentation of a late onset type of the juvenile onset form
AU - Robbins, Jay H.
AU - Brumback, Roger A.
AU - Mendiones, Marlene
AU - Barrett, Susanna F.
AU - Carl, James R.
AU - Cho, Sechin
AU - Denckla, Martha Bridge
AU - Ganges, Mary B.
AU - Gerber, Lynn H.
AU - Guthrie, Richard A.
AU - Meer, Jacob
AU - Moshell, Alan N.
AU - Polinsky, Ronald J.
AU - Ravin, Paula D.
AU - Sonies, Barbara C.
AU - Tarone, Robert E.
PY - 1991/6
Y1 - 1991/6
N2 - Xeroderma pigmentosum (XP) is an autosomal recessive, neurocutaneous disorder characterized by sunlight-induced skin cancers and defective DNA repair. Many XP children develop a primary neuronal degeneration. We describe 2 unusual XP patients who had a delayed onset of XP neurological disease. Somatic cell genetic studies indicated that they have the same defective DNA repair gene and are both in XP complementation group A. These 2 patients, together with a group A patient previously reported from London, establish as a distinct clinical entity the late onset type of the juvenile onset form of XP neurological disease. The functional capacity of these patients' cultured fibroblast strains to survive after treatment with ultraviolet radiation indicates that their DNA repair defect is less severe than that of typical group A patients who have a more severe neurodegeneration with an earlier symptomatic onset. The premature death of nerve cells in XP patients (which is presumably due to their inherited defects in DNA repair mechanisms) suggests that normal repair of damaged DNA in neurons is required to maintain integrity of the human nervous system.
AB - Xeroderma pigmentosum (XP) is an autosomal recessive, neurocutaneous disorder characterized by sunlight-induced skin cancers and defective DNA repair. Many XP children develop a primary neuronal degeneration. We describe 2 unusual XP patients who had a delayed onset of XP neurological disease. Somatic cell genetic studies indicated that they have the same defective DNA repair gene and are both in XP complementation group A. These 2 patients, together with a group A patient previously reported from London, establish as a distinct clinical entity the late onset type of the juvenile onset form of XP neurological disease. The functional capacity of these patients' cultured fibroblast strains to survive after treatment with ultraviolet radiation indicates that their DNA repair defect is less severe than that of typical group A patients who have a more severe neurodegeneration with an earlier symptomatic onset. The premature death of nerve cells in XP patients (which is presumably due to their inherited defects in DNA repair mechanisms) suggests that normal repair of damaged DNA in neurons is required to maintain integrity of the human nervous system.
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UR - http://www.scopus.com/inward/citedby.url?scp=0025820574&partnerID=8YFLogxK
M3 - Article
C2 - 2065254
AN - SCOPUS:0025820574
VL - 114
SP - 1335
EP - 1361
JO - Brain
JF - Brain
SN - 0006-8950
IS - 3
ER -