In 1906 Dr. Alois Alzheimer was first todescribe Alzheimers illness.A progressive, degenerative illness that attacksthe brain and results in impaired memory,thinking and behavior.
Memory loss that affects job skills.Difficulty performing familiar tasks.Problems with language .Disorientation to time and place.Poor or decreased judgment.Problems with abstract thinking.Misplacing things .Changes in mood or behavior.Changes in personality.
Forgetfulness .Social withdrawal .Hallucinations .Seizures .Death usually result frommalnutrition , infection ,heart disease
AD is a pan ethnic , genetically heterogeneous diseaseLess than 5% of patients have an early-onset familial disease ,15-25% of patients have a late-onset familial disease and 75%of patients have a sporadic disease .10% of familial AD exhibits autosomal dominant inheritance ;the reminder exhibits multifactorial inheritance .
Early-onset AD is a rare form of AD, affectingonly about 5 percent of all people who haveAD. It develops in people ages 30 to 60.FAD is caused by a number of different genemutations on chromosomes 21, 14, and 1, andeach of these mutations causesabnormal proteins to be formed.
Mutations on chromosome 21 cause theformation of abnormal amyloid precursorprotein (APP).A mutation on chromosome 14 causesabnormal presenilin 1 to be made,and a mutation on chromosome 1 leads toabnormal presenilin 2.
Even if only one of these mutated genes isinherited from a parent, the person will almostalways develop early-onset AD. This inheritance pattern is referred to as“autosomal dominant” inheritance.In other words, offspring in the same generationhave a 50/50 chance of developing FAD if one oftheir parents had it.
developing after age 60. genetics of AD have found thatthe mutations seen in early-onset AD are not involved inthis form of the disease.Both familial AD and sporadic late-onset AD are stronglyassociated with Apo lipoprotein E (APOE) gene found onchromosome 19APOE comes in several different forms, or alleles. Threeforms—APOE ε2, APOE ε3, and APOE ε4—occur mostfrequently.
APOE ε4 occurs in about 40 percent of all people whodevelop late-onset AD.and is present in about 25 to 30 percent of thepopulation. People with AD are more likely to have anAPOE ε4 allele than people who do not develop AD.However, many people with AD do not have an APOEε4 allele.
APP undergoes endoproteolytic cleavage in the toproduce a peptide of 40 amino acid(Aβ40) the function of Aβ40 is unknown .In contrast , cleavage of APP in the endoplasmicreticulum produce a peptide of 42 or 43Amino acid (Aβ42/ Aβ43) .and its neurotoxicsubstance .
Patients with AD have a significant increase in(Aβ42/ Aβ43) aggregates within the brainMutation in APP PSEN1 and PSEN2 increase theproduction of (Aβ42/43) .1% of all AD cases occur in patients with downsyndrome . Who overexpress APP.The role of ε4 is unclear .
Cortical atrophy .Neurodegeneration in cholinergic neurons of hippocampus .Extracellular neuritic plaques .Intraneuronal neurofibrillary tangles .Amyloid deposits in the wall of cerebral arteries .
Beta-amyloid PlaquesAmyloid precursor protein (APP) is theprecursor to amyloid plaque.1. APP sticks through the neuron membrane.2. Enzymes cut the APP intofragments of protein, including beta-amyloid.3. Beta-amyloid fragments cometogether in clumps to form plaques.
Mutation in PSEN1 are fully penetrant and usually cause rapidlyprogressive disease with mean onset at 45 .Mutation in APP are fully penetrant and usually cause a rate of ADprogression similar to that of late-onset AD with range onset of 45to 75 .Mutation in PSEN2 are not fully penetrant and usually causeslowly progressive disease with onset ranging from 40 to 57 .
Increase the cholinergic activity •cholesterol-lowering drugs •anti-oxidants (vitamins) and folic acid •anti-inflammatory drugs •substances that prevent formation of beta-amyloid plaques •nerve growth factor to keep neurons healthy
Old ageFamily historyFemale genderDown syndrome