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Familial Alzheimer's disease
A D Sadovnick1, H Tuokko, A Horton
1Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
Summary
This study presents a family with early-onset familial Alzheimer's disease (FAD) inherited in an autosomal dominant pattern. Affected individuals experience disease onset in their late 30s or early 40s, highlighting the need for genetic counseling and risk assessment.
Area of Science:
- Neuroscience
- Genetics
- Gerontology
Background:
- Familial Alzheimer's disease (FAD) accounts for a small percentage of all Alzheimer's cases.
- Autosomal dominant inheritance patterns are well-documented in certain FAD subtypes.
- Early-onset Alzheimer's disease presents unique challenges for affected families and healthcare providers.
Observation:
- A four-generation family exhibiting early-onset Alzheimer's disease was identified.
- The disease demonstrated an apparent autosomal dominant inheritance pattern.
- Affected individuals experienced disease onset in their late 30s to early 40s, with mortality by age 50.
Findings:
- Twelve individuals across four generations were affected by FAD.
- The inheritance pattern strongly suggested autosomal dominant transmission.
- Current generations face a significant risk of developing the disease.
Implications:
- Identification of FAD families is crucial for accurate genetic counseling.
- Understanding recurrence risks is vital for at-risk individuals and future generations.
- Early identification and counseling can aid in managing the impact of familial Alzheimer's disease.