---
title: "Cardiff EOAD"
id: "7202"
type: "cohort"
slug: "cardiff-eoad-2"
published_at: "2024-10-14T17:46:30+00:00"
modified_at: "2024-11-27T16:09:01+00:00"
url: "https://dss.niagads.org/cohorts/cardiff-eoad-2/"
markdown_url: "https://dss.niagads.org/cohorts/cardiff-eoad-2.md"
excerpt: "The Cardiff EOAD cohort was collected throughout England, Wales and Scotland and ascertained using a standard clinical assessment, together with detailed family ascertainment. Our ascertainment protocol used the UK Medical Research Council -AD clinical collection scales (validated for AD by..."
taxonomy_cohort_categories:
  - "ADSP"
taxonomy_cohort_countries:
  - "United Kingdom"
---

## Description

The Cardiff EOAD cohort was collected throughout England, Wales and Scotland and ascertained using a standard clinical assessment, together with detailed family ascertainment. Our ascertainment protocol used the UK Medical Research Council -AD clinical collection scales (validated for AD by Holmes et al. PMID: 10211150), an assessment based on the Manchester structured clinical interview for dementia (PMID: 11113213), the Addenbrooke’s Cognitive Examination (PMID: 21840888), the NeuroPsychiatric Inventory (PMID: 9153155), CAMDEX (PMID: 3790869), Mattis Dementia Rating Scale (Mattis , S. (1988). Dementia Rating Scale: Professional manual . Odessa , FL : Psychological Assessment Resources) and the Mini-Mental state examination (MMSE) (PMID: 1202204). Our protocol recognized the particular challenges in the diagnosis and assessment of EOAD patients including: i) distinguishing patients with anxiety/depression from AD (“pseudo-dementia”); ii) diagnosing behavioural variant frontotemporal dementia (FTD), progressive non-fluent aphasia and semantic dementia and distinguishing these conditions from AD; iii) defining AD variants such as the biparietal syndrome, and iv) providing care and support for patients and families with or at risk of Mendelian neurogenetic disease. All control samples were screened for dementia using the MMSE or ADAS-cog, were determined to be free from dementia at neuropathological examination or had a Braak score of 2.5 or lower.

**Study Inclusion/Exclusion Criteria** :  
**Inclusion Criteria**:

- Onset of symptoms on or before age 70. Participants can be of any age at study
- entry.
- Meets NINCDS-ADRDA criteria for diagnosis of probable AD
- Willing to provide a blood or saliva sample
- Global Deterioration Scale Score of 2 to 7
- White ethnicity

**Exclusion criteria**:

- Current major depressive episode, psychosis (not associated with AD), acute manic or depressive episode of bipolar disorder
- Current diagnosis of substance abuse or substance dependence
- A Blood borne viral infection (such as HIV/AIDS, Hepatitis B, C or D) excludes participants from donating a blood sample. In this instance a saliva sample will be obtained.

## Related Datasets

- [NG00067 – ADSP Umbrella](https://dss.niagads.org/datasets/ng00067/) This dataset includes sequencing data and harmonized phenotypes from cohorts sequenced by the Alzheimer’s Disease Sequencing Project and other AD and Related Dementia’s studies. Samples are processed using a common… [Learn more](https://dss.niagads.org/datasets/ng00067/)

## Related Studies

- [sa000023 - Dissecting the Genomic Etiology of non-Mendelian Early-Onset Alzheimer Disease (EOAD) and Related Phenotypes](https://dss.niagads.org/studies/sa000023/) Background: Genomic studies of Alzheimer’s disease (AD) have primarily focused on non-Hispanic White (NHW) participants affected by the late-onset form of the disease (LOAD; onset age: >65), or the study… [Learn more](https://dss.niagads.org/studies/sa000023/)

## Related Sample Sets

- [snd10095 - EOAD2 WGS](https://dss.niagads.org/sample-sets/snd10095/) 1,264 samples were sequenced at USUHS on the NovaSeq machine. FASTQ files were sent to GCAD for processing on the VCPA 1.1 pipeline. A total of 1,183 samples passed sequencing… [Learn more](https://dss.niagads.org/sample-sets/snd10095/)

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