1. SECTIONS:
2. preface & acknowledgements
3. genetics at a glance
4. contacts, support & testing
5. testing & pregnancy
6. newborn screening
7. cancer in the family
8. cardiovascular conditions
9. chromosomal conditions
10. clotting & bleeding conditions
11. cystic fibrosis
12. diabetes
13. fragile X syndrome and other causes of developmental delay
14. haemoglobinopathies
15. hereditary haemochromatosis
16. neurofibromatosis
17. neurological conditions
18. psychiatric conditions
19. genetics in practice
20. emerging genetic technologies
21. glossary

Familial Alzheimer disease

 

There are two forms:

1. Early-onset familial Alzheimer disease (EoFAD)
   
2. Late-onset familial Alzheimer disease (LoFAD)

 

Early-onset familial Alzheimer disease (EoFAD)

 

Clinical features

1. Typically occurs in middle age (less than 60 years) but is otherwise indistinguishable from sporadic early-onset Alzheimer disease.

 

Criteria for EoFAD:

1. A family with two or more affected people with onset age <65 years in more than one generation of a family, with clinically suggestive symptoms or pathologically proven Alzheimer disease in at least one individual.
   
2. An individual or family member with a disease-causing genetic mutation in one of the genes causing early-onset familial Alzheimer disease.

 

Genetics

1. Represents 1% of all cases of Alzheimer disease.
   
2. Follows a pattern of autosomal dominant inheritance.
   
3. The vast majority of individuals affected are sporadic cases where there is no family history of the condition.
   
4. Mutations in the gene presenilin-1 (PS-1) are implicated in over 50% of families with EoFAD.
   
5. Other genes that are known to cause EoFAD are amyloid precursor protein (APP) and presenilin-2 (PS-2).

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