Dataset Information

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

ACCESS DATA

Publications

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

Similar Datasets

Project description:Currently less than half of the estimated number of people with dementia in England receive a formal diagnosis of dementia or have contact with specialist dementia services. Case finding focused on high risk groups may be an effective way to identify the undiagnosed. This joint Surrey Downs Clinical Commissioning Group and Surrey and Borders NHS Foundation Trust quality improvement project aimed to increase the rate of dementia diagnosis across Surrey Downs using specialist link nurses (SLNs). Thirty three GP surgeries covering the entire Surrey Downs area took part in the project. Individuals at high risk of developing dementia were identified from GP electronic disease registers, and were offered screening at their GP practices by SLNs, using a combination of mini cognitive test (Mini-Cog) and functional assessment questionnaire (FAQ). Suitable individuals who screened positive were seen by their GP and where appropriate referred to secondary care services for further evaluation. Based on the presence of risk factors, 6657 (11.9%) people were identified from a total population of 55 845 over 65s, and 1980 (29.7%) completed the screening assessment. Three hundred and fifty eight (18.1%) individuals screened positive and were referred to their GP, who referred 205 (57.2%) of them to the memory services for further assessment. Of those referred, 164 (80%) had a comprehensive specialist assessment. Forty one (20%) declined further assessment, and their GPs were informed. The mean age of the cohort who completed the comprehensive assessment was 82.3 years (SD=4.26), and were predominantly white and male. Fifty four (32.9%) had mild cognitive disorder (MCD), and 101 (61.6%) patients were diagnosed with dementia. The most common dementia was mixed type (43; 42.6%), followed by Alzheimer's dementia (32; 31.7%). The most common risk factor among patients with cognitive impairment (MCD or dementia) was hypertension (69; 44.5 %), followed by ischemic heart disease (64, 41.3%). Nurse led case finding for cognitive impairment in a high risk population identifies people with dementia who are not yet formally diagnosed. The combined use of brief instruments to assess cognitive functioning and functional capabilities is helpful in identifying individuals with possible dementia.

Dataset Information

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

Publications

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

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets