Diagnosis of Gerstmann-Sträussler syndrome in familial dementia with prion protein gene analysis.
The polymerase chain reaction was used to screen DNA samples from 12 unrelated individuals with various familial dementias and ataxias for mutation in part of the prion protein (PrP) gene, an abnormality that occurs in individuals with the spongiform encephalopathies, Gerstmann-Sträussler syndrome (GSS) and Creutzfeldt-Jakob disease. 2 members of a family in whom GSS was not previously suspected had a 0.15 kb insertion of similar size to that found in another kindred with pathologically proven spongiform encephalopathy. GSS may be more common than is currently realised; PrP gene analysis is potentially useful for diagnosis and genetic counselling in familial dementias and ataxias.
Collinge
J
J
Division of Psychiatry, Clinical Research Centre, Harrow, Middlesex, UK.
Harding
A E
AE
Owen
F
F
Poulter
M
M
Lofthouse
R
R
Boughey
A M
AM
Shah
T
T
Crow
T J
TJ
D000328:Adult; D001259:Ataxia / Q000150:complications / Q000235:genetics; D004251:DNA Transposable Elements; D004259:DNA-Directed DNA Polymerase; D003704:Dementia / Q000150:complications / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D011328:Prions / Q000032:analysis* / Q000235:genetics; D012897:Slow Virus Diseases / Q000150:complications / Q000175:diagnosis* / Q000235:genetics
D004251:DNA Transposable Elements; D011328:Prions; D004259:DNA-Directed DNA Polymerase