Alzheimer disease (AD) is a neurodegenerative disorder of the elderly characterized clinically by progressive dementia, and pathologically by neuronal loss in the cerebral cortex accompanied by massive accumulations of two types of abnormal fibrous proteins i.e., amyloid ß protein as amyloid deposits and hyperphosphorylated tau forming paired helical filaments.
An early onset and a late onset form can be differentiated. The latter one is more common.
The molecular test can help to provide an early diagnosis and in this connection it can eanble an early therapy that is more effective than in lateer state of the disease.
The fact that Alzheimer disease is geneticaly determined is generally accepted. Many genetic disturbances on different genes have been correlated to the disease. But in none of them the pathogenetic link from gene to disease has been established. The most common mutation causing the disease is the E4-allel of apolipoprotein E. This mutation is most common in late onset form of the disease but it is also frequent in early onset forms. The other mutations associated to the diesease are more rare.
|Hereditary neurological disorders|
|Autosomal dominant cerebellar ataxia, deafness and narcolepsy|
|Autosomal recessive spastic paraplegia type 44|
|Brain malformations with urinary tract defects|
|Brain small vessel disease with hemorrhage|
|Congenital insensitivity to pain with anhidrosis|
|Hereditary benign chorea|
|Hereditary brain tumors|
|Hereditary distal motor neuron neuropathy type 5A|
|Hereditary muscle diseases|
|Hereditary sensory and autonomic neuropathy type 2A|
|Hereditary sensory neuropathy type 1E|
|Hypokalemic periodic paralysis 1|
|Hypomyelinating Leukodystrophy 2|
|Idiopathic basal ganglia calcification 1|
|Intellectual disability-severe speech delay-mild dysmorphism syndrome|
|Nemaline myopathy 5|
|Severe neonatal-onset encephalopathy with microcephaly|
|Spastic paraplegia 17 with amyotrophy of hands and feet|
|Susceptibility to glioma|
|Tuberous sclerosis complex|
|X-linked syndromic mental retardation 13|
Mayeux R et al. (1999) Treatment of Alzheimer's disease.
Bookheimer SY et al. (2000) Patterns of brain activation in people at risk for Alzheimer's disease.
None (2001) Gene identification in Alzheimer's disease.
Ertekin-Taner N et al. (2003) Fine mapping of the alpha-T catenin gene to a quantitative trait locus on chromosome 10 in late-onset Alzheimer's disease pedigrees.
OMIM.ORG articleOmim 104310
Orphanet articleOrphanet ID 1020
Wikipedia articleWikipedia EN (Alzheimer's_disease)