Familial Alzheimer's Disease

from Wikipedia, the free encyclopedia
Classification according to ICD-10
G30.0 Alzheimer's disease with early onset
ICD-10 online (WHO version 2019)

The familial Alzheimer's disease is a very rare special form of Alzheimer's disease with earlier disease onset, usually before age 60.

Synonyms are: Alzheimer's disease, familial; English Familial Alzheimer's Disease; FAD; Early-onset familial autosomal dominant Alzheimer's disease; EOFAD; Early-onset autosomal dominant Alzheimer's disease

distribution

The frequency is given as 1–9 / 100,000, inheritance is autosomal dominant .

This familial form accounts for less than 5% of all Alzheimer's diseases.

root cause

Depending on the underlying mutation , the following types can be distinguished:

  • Type 1 , 10-15%, with mutations in the APP - gene on chromosome 21 locus q21.3
  • Type 2 , 20–70%, most common form, with mutations in the PSEN1 gene on chromosome 14, locus q24.2, often associated with seizures and language deficits, often deteriorating relatively quickly
  • Type 3 , 5%, with mutations in the PSEN2 gene on chromosome 1 locus q42.13

In 20–40% a genetic cause cannot be assigned with certainty. All of these mutations lead to the death of nerve cells , loss of synapses and the formation of senile plaques.

Clinical manifestations

Familial Alzheimer's disease corresponds to classic Alzheimer's disease except for the earlier onset of the disease.

Diagnosis and treatment

The diagnosis and treatment options do not differ from what is described under Alzheimer's disease .

Differential diagnostics

The following are to be distinguished:

Individual evidence

  1. ↑ a b c d e Alzheimer's disease with early onset, autosomal dominant. In: Orphanet (Rare Disease Database).
  2. ↑ a b c T.D. Bird: Alzheimer's Disease Overview. In: GeneReviews. 2018. NIH.gov
  3. ^ Alzheimer's disease 1, familial.  In: Online Mendelian Inheritance in Man . (English)
  4. ↑ Alzheimer's disease 3, familial.  In: Online Mendelian Inheritance in Man . (English)
  5. ^ Alzheimer's disease 4, familial.  In: Online Mendelian Inheritance in Man . (English)
  6. ↑ GD Schellenberg, TJ Montine: The genetics and neuropathology of Alzheimer's disease. In: Acta neuropathologica. Volume 124, number 3, September 2012, pp. 305-323, doi: 10.1007 / s00401-012-0996-2 , PMID 22618995 , PMC 3708460 (free full text) (review).
  7. ↑ TD Bird: Early-Onset Familial Alzheimer's Disease. In: GeneReviews. 2012 NIH.gov

Web links