Neurological manifestations of xeroderma pigmentosum in two siblings

D. C. Thrush, G. Holti, Walter G Bradley, M. J. Campbell, J. N. Walton

Research output: Contribution to journalArticle

26 Citations (Scopus)

Abstract

Two sibs with xeroderma pigmentosum and neurological complications are described. These included progressive dementia, chorea, perceptive deafness, cortico-spinal tract degeneration, peripheral neuropathy and skeletal abnormalities. Electromyographic studies showed evidence of chronic denervation and the motor and sensory nerve conduction studies indicated the presence of a mixed axonal peripheral neuropathy in both cases. A sural nerve biopsy in 1 case demonstrated a global fall out of both myelinated and unmyelinated nerve fibres and a muscle biopsy in this patient confirmed the presence of chronic denervation atrophy with widespread reinnervation. The significance of these findings is discussed and the basic defect in xeroderma pigmentosum is reviewed.

Original languageEnglish
Pages (from-to)91-104
Number of pages14
JournalJournal of the Neurological Sciences
Volume22
Issue number1
DOIs
StatePublished - Jan 1 1974
Externally publishedYes

Fingerprint

Xeroderma Pigmentosum
Peripheral Nervous System Diseases
Denervation
Neurologic Manifestations
Siblings
Biopsy
Myelinated Nerve Fibers
Chorea
Sural Nerve
Unmyelinated Nerve Fibers
Neural Conduction
Deafness
Atrophy
Dementia
Muscles

ASJC Scopus subject areas

  • Aging
  • Clinical Neurology
  • Surgery
  • Neuroscience(all)
  • Developmental Neuroscience
  • Neurology

Cite this

Neurological manifestations of xeroderma pigmentosum in two siblings. / Thrush, D. C.; Holti, G.; Bradley, Walter G; Campbell, M. J.; Walton, J. N.

In: Journal of the Neurological Sciences, Vol. 22, No. 1, 01.01.1974, p. 91-104.

Research output: Contribution to journalArticle

Thrush, D. C. ; Holti, G. ; Bradley, Walter G ; Campbell, M. J. ; Walton, J. N. / Neurological manifestations of xeroderma pigmentosum in two siblings. In: Journal of the Neurological Sciences. 1974 ; Vol. 22, No. 1. pp. 91-104.
@article{7921f43c69b5442db9fdb51709b14685,
title = "Neurological manifestations of xeroderma pigmentosum in two siblings",
abstract = "Two sibs with xeroderma pigmentosum and neurological complications are described. These included progressive dementia, chorea, perceptive deafness, cortico-spinal tract degeneration, peripheral neuropathy and skeletal abnormalities. Electromyographic studies showed evidence of chronic denervation and the motor and sensory nerve conduction studies indicated the presence of a mixed axonal peripheral neuropathy in both cases. A sural nerve biopsy in 1 case demonstrated a global fall out of both myelinated and unmyelinated nerve fibres and a muscle biopsy in this patient confirmed the presence of chronic denervation atrophy with widespread reinnervation. The significance of these findings is discussed and the basic defect in xeroderma pigmentosum is reviewed.",
author = "Thrush, {D. C.} and G. Holti and Bradley, {Walter G} and Campbell, {M. J.} and Walton, {J. N.}",
year = "1974",
month = "1",
day = "1",
doi = "10.1016/0022-510X(74)90057-4",
language = "English",
volume = "22",
pages = "91--104",
journal = "Journal of the Neurological Sciences",
issn = "0022-510X",
publisher = "Elsevier",
number = "1",

}

TY - JOUR

T1 - Neurological manifestations of xeroderma pigmentosum in two siblings

AU - Thrush, D. C.

AU - Holti, G.

AU - Bradley, Walter G

AU - Campbell, M. J.

AU - Walton, J. N.

PY - 1974/1/1

Y1 - 1974/1/1

N2 - Two sibs with xeroderma pigmentosum and neurological complications are described. These included progressive dementia, chorea, perceptive deafness, cortico-spinal tract degeneration, peripheral neuropathy and skeletal abnormalities. Electromyographic studies showed evidence of chronic denervation and the motor and sensory nerve conduction studies indicated the presence of a mixed axonal peripheral neuropathy in both cases. A sural nerve biopsy in 1 case demonstrated a global fall out of both myelinated and unmyelinated nerve fibres and a muscle biopsy in this patient confirmed the presence of chronic denervation atrophy with widespread reinnervation. The significance of these findings is discussed and the basic defect in xeroderma pigmentosum is reviewed.

AB - Two sibs with xeroderma pigmentosum and neurological complications are described. These included progressive dementia, chorea, perceptive deafness, cortico-spinal tract degeneration, peripheral neuropathy and skeletal abnormalities. Electromyographic studies showed evidence of chronic denervation and the motor and sensory nerve conduction studies indicated the presence of a mixed axonal peripheral neuropathy in both cases. A sural nerve biopsy in 1 case demonstrated a global fall out of both myelinated and unmyelinated nerve fibres and a muscle biopsy in this patient confirmed the presence of chronic denervation atrophy with widespread reinnervation. The significance of these findings is discussed and the basic defect in xeroderma pigmentosum is reviewed.

UR - http://www.scopus.com/inward/record.url?scp=0016153268&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0016153268&partnerID=8YFLogxK

U2 - 10.1016/0022-510X(74)90057-4

DO - 10.1016/0022-510X(74)90057-4

M3 - Article

VL - 22

SP - 91

EP - 104

JO - Journal of the Neurological Sciences

JF - Journal of the Neurological Sciences

SN - 0022-510X

IS - 1

ER -