Neurological disease in xeroderma pigmentosum: Documentation of a late onset type of the juvenile onset form

Jay H. Robbins, Roger A. Brumback, Marlene Mendiones, Susanna F. Barrett, James R. Carl, Sechin Cho, Martha Bridge Denckla, Mary B. Ganges, Lynn H. Gerber, Richard A. Guthrie, Jacob Meer, Alan N. Moshell, Ronald J. Polinsky, Paula D. Ravin, Barbara C. Sonies, Robert E. Tarone

Research output: Contribution to journalArticle

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 languageEnglish (US)
Pages (from-to)1335-1361
Number of pages27
JournalBrain
Volume114
Issue number3
StatePublished - Jun 1991

Fingerprint

Xeroderma Pigmentosum
Documentation
Repair
DNA
DNA repair
DNA Repair
Neurons
Defects
Complementation
Fibroblasts
Cell
neurons
Neurology
Degeneration
Nerve
Neurocutaneous Syndromes
Ultraviolet
Ultraviolet radiation
Integrity
Skin

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

Robbins, J. H., Brumback, R. A., Mendiones, M., Barrett, S. F., Carl, J. R., Cho, S., ... Tarone, R. E. (1991). Neurological disease in xeroderma pigmentosum: Documentation of a late onset type of the juvenile onset form. Brain, 114(3), 1335-1361.

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 journalArticle

Robbins, JH, Brumback, RA, Mendiones, M, Barrett, SF, Carl, JR, Cho, S, Denckla, MB, Ganges, MB, Gerber, LH, Guthrie, RA, Meer, J, Moshell, AN, Polinsky, RJ, Ravin, PD, Sonies, BC & Tarone, RE 1991, 'Neurological disease in xeroderma pigmentosum: Documentation of a late onset type of the juvenile onset form', Brain, vol. 114, no. 3, pp. 1335-1361.
Robbins JH, Brumback RA, Mendiones M, Barrett SF, Carl JR, Cho S et al. Neurological disease in xeroderma pigmentosum: Documentation of a late onset type of the juvenile onset form. Brain. 1991 Jun;114(3):1335-1361.
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. / Neurological disease in xeroderma pigmentosum : Documentation of a late onset type of the juvenile onset form. In: Brain. 1991 ; Vol. 114, No. 3. pp. 1335-1361.
@article{627c8769dd1043dc8e9da301c6316acc,
title = "Neurological disease in xeroderma pigmentosum: Documentation of a late onset type of the juvenile onset form",
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.",
author = "Robbins, {Jay H.} and Brumback, {Roger A.} and Marlene Mendiones and Barrett, {Susanna F.} and Carl, {James R.} and Sechin Cho and Denckla, {Martha Bridge} and Ganges, {Mary B.} and Gerber, {Lynn H.} and Guthrie, {Richard A.} and Jacob Meer and Moshell, {Alan N.} and Polinsky, {Ronald J.} and Ravin, {Paula D.} and Sonies, {Barbara C.} and Tarone, {Robert E.}",
year = "1991",
month = "6",
language = "English (US)",
volume = "114",
pages = "1335--1361",
journal = "Brain",
issn = "0006-8950",
publisher = "Oxford University Press",
number = "3",

}

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.

UR - http://www.scopus.com/inward/record.url?scp=0025820574&partnerID=8YFLogxK

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 -