Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Alzheimer disease

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.

Epidemiology

An early onset and a late onset form can be differentiated. The latter one is more common.

Test Strategy

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.

Pathogenesis

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.

Systematic

Hereditary neurological disorders
Alzheimer disease
APOE
APP
CLU
CYP2D6
HFE
Arts syndrome
Autism
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
Brunner syndrome
Charcot-Marie-Tooth disease
Congenital insensitivity to pain with anhidrosis
Hereditary benign chorea
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
Migraine
Nemaline myopathy 5
Porencephaly
Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly
Spastic paraplegia 17 with amyotrophy of hands and feet
Susceptibility to glioma
Vascular dementia
X-linked syndromic mental retardation 13

References:

1.

Mayeux R et al. (1999) Treatment of Alzheimer's disease.

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2.

Bookheimer SY et al. (2000) Patterns of brain activation in people at risk for Alzheimer's disease.

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3.

None (2001) Gene identification in Alzheimer's disease.

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4.

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.

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5.

OMIM.ORG article

Omim 104310 [^]
6.

Orphanet article

Orphanet ID 1020 [^]
7.

Wikipedia article

Wikipedia EN (Alzheimer's_disease) [^]
Update: April 29, 2019