Alzheimer’s

Early Onset Familial Alzheimer’s Disease

Genes: APP, PSEN1, PSEN2, MPO

Early onset familial Alzheimer’s disease (eFAD) is hereditary and marked by Alzheimer’s disease symptoms that appear at an unusually early age. Symptoms can start in a person’s thirties, forties, and fifties (and very rarely in the late twenties).

Having a pathogenic mutation in one of chosen genes virtually guarantees that one will develop early onset Alzheimer’s disease.

Dementia

Frontotemporal Dementia

Genes: AAAS, CSF1R, DCTN1, DNMT1, GRN,
LOC105375056, MAPT, NOTCH3, POLG, PRNP,
SNCA, SNCA-AS1, SNCB, TREM2, TREML1, TYROBP

Frontotemporal Dementia (FTD), originally called Pick’s disease, is a rarer form of dementia mostly affecting people under the age of 65. The symptoms of FTD can be quite varied but include changes that predominantly affect
behavior or language. There are different types of FTD, and these are likely to have different causes. Some people with FTD have a family history of dementia and the condition may be inherited in some of these families. For behavioral variant FTD, one third to one half of people could have a family history.

Parkinson’s

Genes: ATP13A2, AUP1, BAIAP2L2, CSF1R, DCTN1, EIF4G1, FBXO7, GBA, GBF1, GCH1, HTRA2, LOC105377329, LOXL3, LRRK2, NOTCH3 , PACRG, PARK7, PINK1, PINK1-AS, PLA2G6, POLG, PRKN, PRKRA, SLC6A3, SNCA, SNCA-AS1, SNCB, TAF1, TH, UCHL1, VPS35

Many Parkinson’s disease symptoms occur when nerve cells die or become impaired. Normally, these cells produce a chemical messenger called dopamine, which transmits signals within the brain to produce smooth physical movements. When these dopamine-producing neurons are damaged or die, communication between the brain and muscles weakens. Eventually, the brain becomes unable to control muscle movement.
Some gene mutations appear to disturb the cell machinery that breaks down unwanted proteins in dopamine-producing neurons. As a result, unwanted proteins accumulate, leading to the impairment or death of these cells. Other mutations may affect the function of mitochondria, the energy-producing structures within cells. As a byproduct of energy production, mitochondria make unstable molecules called free radicals that can damage cells. Cells normally counteract the effects of free radicals before they cause damage, but mutations can disrupt this process.