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A case of dementia with PRNP D178Ncis-129M and no insomnia.

ABSTRACT:

Objective

To describe a dementia case clinically diagnosed as Alzheimer disease with a PRNP genotype usually associated with familial fatal insomnia.

Methods

Polymerase chain reaction amplification and subsequent direct sequencing of PGRN, MAPT, PSEN1, PSEN2, APP, and PRNP genes.

Results

A point mutation (D178N) was found in the PRNP gene.

Conclusions

The mutation D178N in the PRNP gene associated with the M129 genotype is usually associated with familial fatal insomnia. However, a few cases have been reported with different clinical phenotypes. Here, we describe one of these cases and stress the importance of genetic screening of PRNP in early onset dementia cases.

SUBMITTER: Guerreiro RJ

PROVIDER: S-EPMC2787867 | biostudies-literature | 2009 Oct-Dec

REPOSITORIES: biostudies-literature

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A case of dementia with PRNP D178Ncis-129M and no insomnia.

Guerreiro Rita J RJ Vaskov Tina T Crews Cynthia C Singleton Andrew A Hardy John J

Alzheimer disease and associated disorders 20091001 4

<h4>Objective</h4>To describe a dementia case clinically diagnosed as Alzheimer disease with a PRNP genotype usually associated with familial fatal insomnia.<h4>Methods</h4>Polymerase chain reaction amplification and subsequent direct sequencing of PGRN, MAPT, PSEN1, PSEN2, APP, and PRNP genes.<h4>Results</h4>A point mutation (D178N) was found in the PRNP gene.<h4>Conclusions</h4>The mutation D178N in the PRNP gene associated with the M129 genotype is usually associated with familial fatal insom ...[more]

PMID: 19571725

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