---
title: "UAB/HudsonAlpha Families with Neurodegenerative Diseases – Set2 (2024)"
id: "7993"
type: "sample_set"
slug: "snd10116"
published_at: "2025-03-07T17:46:30+00:00"
modified_at: "2025-04-01T13:43:40+00:00"
url: "https://dss.niagads.org/sample-sets/snd10116/"
markdown_url: "https://dss.niagads.org/sample-sets/snd10116.md"
excerpt: "This study (UAB IRB study title: Evaluation of Genomic Variants in Patients with Neurologic Diseases) is to evaluate patients with early onset and/or atypical neurodegenerative diseases that are suspected to have a genetic component using whole genome sequencing. In addition,..."
---

## Description

This study (UAB IRB study title: Evaluation of Genomic Variants in Patients with Neurologic Diseases) is to evaluate patients with early onset and/or atypical neurodegenerative diseases that are suspected to have a genetic component using whole genome sequencing. In addition, relatives of probands are also sequenced when available. When a diagnostic genetic variant is identified, the result is validated with clinical sanger and the result is returned to the patient. Patients for which a diagnostic variant is not identified are available for analysis in larger case-control studies if consent is given to do so.  
This second set of samples were sequenced using NovaSeq.

## Cohorts

- [UAB/HudsonAlpha Families with Neurodegenerative Diseases](https://dss.niagads.org/cohorts/uab-hudsonalpha-families-with-neurodegenerative-diseases/)

## Sex

### Total number of samples: 87

Female3843.7 %

Male4956.3 %

## Race

### Total number of samples: 87

| Black or African American | 8 |
| --- | --- |
| White | 79 |

## Ethnicity

### Total number of samples: 87

Not Hispanic or Latino

87

100.0%

## Diagnosis

### Total number of samples: 87

| AD |  |  |
| --- | --- | --- |
| Case | 29 | 33.3% |

| Fronto Temporal Dementia (FTD) |  |  |
| --- | --- | --- |
| Case | 8 | 9.2% |

| Dementia |  |  |
| --- | --- | --- |
| Case | 26 | 29.9% |

| Neurodegenerative disease |  |  |
| --- | --- | --- |
| Control | 17 | 19.5% |
| Case | 6 | 6.9% |

| Corticobasal syndrome (CBS) |  |  |
| --- | --- | --- |
| Case | 1 | 1.1% |

## APOE

### Total number of samples: 87

- 221 (1.1%)
- 2311 (12.6%)
- 3341 (47.1%)
- 3425 (28.7%)
- 449 (10.3%)