Abstract:
:Recently, a frequent prion protein gene (PRNP) polymorphism consisting of a methionine (M) for valine (V) substitution at codon 129 has been associated with cognitive impairment in elderly individuals. Down syndrome (DS) is associated with mental retardation and development of Alzheimer-like brain abnormalities. In the present study, we investigated the role of the PRNP polymorphism in 122 relatively young Italian DS patients. Allele frequencies of DS subjects did not differ from those in the general population. However, we found a significantly faster rate of decline in intellectual ability in the subgroup of DS patients carrying at least one V allele compared with the M/M DS subjects. An additive deleterious effect of apolipoprotein E epsilon 4 allele was detected after stratifying by APOE gene status. Our findings provide evidence that variability of the PRNP gene at codon 129 might contribute to accelerating the rate of earlier cognitive decline in DS subjects.
journal_name
J Neuroljournal_title
Journal of neurologyauthors
Del Bo R,Comi GP,Giorda R,Crimi M,Locatelli F,Martinelli-Boneschi F,Pozzoli U,Castelli E,Bresolin N,Scarlato Gdoi
10.1007/s00415-003-1057-5keywords:
subject
Has Abstractpub_date
2003-06-01 00:00:00pages
688-92issue
6eissn
0340-5354issn
1432-1459journal_volume
250pub_type
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