---
title: "UAB/HudsonAlpha Families with Neurodegenerative Diseases – Set1 (2019)"
id: "7991"
type: "sample_set"
slug: "snd10115"
published_at: "2025-03-07T17:44:51+00:00"
modified_at: "2025-04-01T13:44:30+00:00"
url: "https://dss.niagads.org/sample-sets/snd10115/"
markdown_url: "https://dss.niagads.org/sample-sets/snd10115.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

**[https://archive.niagads.org/datasets/ng00082#](https://archive.niagads.org/datasets/ng00082#)**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. A total of 61 patients were sequenced in this set. 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 first set of samples were sequenced using HiSeq X.

## Cohorts

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

## Sex

### Total number of samples: 61

Female3760.7 %

Male2439.3 %

## Race

### Total number of samples: 61

| Black or African American | 5 |
| --- | --- |
| White | 56 |

## Ethnicity

### Total number of samples: 61

Not Hispanic or Latino

61

100.0%

## Diagnosis

### Total number of samples: 61

| AD |  |  |
| --- | --- | --- |
| Case | 15 | 24.6% |

| Fronto Temporal Dementia (FTD) |  |  |
| --- | --- | --- |
| Case | 10 | 16.4% |

| Dementia |  |  |
| --- | --- | --- |
| Case | 2 | 3.3% |

| Neurodegenerative disease |  |  |
| --- | --- | --- |
| Control | 29 | 47.5% |
| Case | 3 | 4.9% |

| Corticobasal syndrome (CBS) |  |  |
| --- | --- | --- |
| Case | 2 | 3.3% |

## APOE

### Total number of samples: 61

- 233 (4.9%)
- 241 (1.6%)
- 3324 (39.3%)
- 3428 (45.9%)
- 445 (8.2%)