Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
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Query: UMLS:C0043346 (
xeroderma pigmentosum
)
2,924
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Neurological manifestations of
xeroderma pigmentosum
, a rare autosomal recessive neurocutaneous syndrome, are variable. The association with progressive mental retardation, usually with onset in childhood, is well known. We present a case of x.p. with progressive
presenile dementia
. This combination has, to our knowledge, not yet been reported in the literature. Although no hints on another aetiology have been found, the coincidental combination of x.p. with M. Alzheimer has to be taken into consideration. CT scan and MRI showed a marked cerebral atrophy.
...
PMID:[Presenile dementia in xeroderma pigmentosum]. 174 55
