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 language | English |
|---|---|
| Pages (from-to) | 91-104 |
| Number of pages | 14 |
| Journal | Journal of the Neurological Sciences |
| Volume | 22 |
| Issue number | 1 |
| DOIs | |
| State | Published - Jan 1 1974 |
| Externally published | Yes |
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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 journal › Article
}
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 -