Alzheimer disease

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Description from OMIM

Alzheimer disease is the most common form of progressive dementia in the elderly. It is a neurodegenerative disorder characterized by the neuropathologic findings of intracellular neurofibrillary tangles (NFT) and extracellular amyloid plaques that accumulate in vulnerable brain regions (Sennvik et al., 2000). Terry and Davies (1980) pointed out that the 'presenile' form, with onset before age 65, is identical to the most common form of late-onset or 'senile' dementia, and suggested the term 'senile dementia of the Alzheimer type' (SDAT). Haines (1991) reviewed the genetics of AD. Selkoe (1996) reviewed the pathophysiology, chromosomal loci, and pathogenetic mechanisms of Alzheimer disease. Theuns and Van Broeckhoven (2000) reviewed the transcriptional regulation of the genes involved in Alzheimer disease. Genetic Heterogeneity of Alzheimer Disease Alzheimer disease is a genetically heterogeneous disorder. See also AD2 (104310), associated with the APOE*4 allele (107741) on chromosome 19; AD3 (607822), caused by mutation in the presenilin-1 gene (PSEN1; 104311) on 14q; and AD4 (606889), caused by mutation in the PSEN2 gene (600759) on 1q31. There is evidence for additional AD loci on other chromosomes; see AD5 (602096) on 12p11, AD6 (605526) on 10q24, AD7 (606187) on 10p13, AD8 (607116) on 20p, AD9 (608907), associated with variation in the ABCA7 gene (605414) on 19p13, AD10 (609636) on 7q36, AD11 (609790) on 9q22, AD12 (611073) on 8p12-q22, AD13 (611152) on 1q21, AD14 (611154) on 1q25, AD15 (611155) on 3q22-q24, AD16 (300756) on Xq21.3, AD17 (615080) on 6p21.2, and AD18 (615590), associated with variation in the ADAM10 gene (602192) on 15q21. Evidence also suggests that mitochondrial DNA polymorphisms may be risk factors in Alzheimer disease (502500). Finally, there have been associations between AD and various polymorphisms in other genes, including alpha-2-macroglobulin (A2M; {103950.0005), low density lipoprotein-related protein-1 (LRP1; 107770), the transferrin gene (TF; 190000), the hemochromatosis gene (HFE; 613609), the NOS3 gene (163729), the vascular endothelial growth factor gene (VEGF; 192240), the ABCA2 gene (600047), and the TNF gene (191160) (see MOLECULAR GENETICS).



Prevalence of clinical parameters (%)







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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Dementia nervous 100 % 15534185 2013-08-22
Cerebral atrophy nervous 100 % 23303849 2016-12-22
Myoclonus nervous 61 % 15534185 2013-08-22
Limb dyspraxia nervous 44 % 15534185 2013-08-22
Anosmia nervous 23 % 16170073 2013-11-04
Hyperactive reflexes nervous 22 % 15534185 2013-08-22
Late visual disorientation nervous 17 % 15534185 2013-08-22
Seizures nervous 17 % 15534185 2013-08-22
Gait disturbances nervous 17 % 15534185 2013-08-22



List of references:


The natural history of Alzheimer disease: a longitudinal presymptomatic and symptomatic study of a familial cohort.
Alison K Godbolt, Lisa Cipolotti, Hilary Watt, Nick C Fox, John C Janssen, Martin N Rossor,

Knowledge of the evolution of cognitive deficits in Alzheimer disease is important for our understanding of disease progression. Previous reports, however, have either lacked detail or have not covered the presymptomatic stages.

Archives of neurology - Nov 2004



Cerebral atrophy in mild cognitive impairment and Alzheimer disease: rates and acceleration.
Kelvin K Leung, Jonathan W Bartlett, Josephine Barnes, Emily N Manning, Sebastien Ourselin, Nick C Fox, ,

To quantify the regional and global cerebral atrophy rates and assess acceleration rates in healthy controls, subjects with mild cognitive impairment (MCI), and subjects with mild Alzheimer disease (AD).

Neurology - Feb 2013



Anosmia is very common in the Lewy body variant of Alzheimer's disease.
J M Olichney, C Murphy, C R Hofstetter, K Foster, L A Hansen, L J Thal, R Katzman,

Olfactory abnormalities are reported in Alzheimer's disease and Parkinson's disease. Anosmia appears to be common in dementia with Lewy bodies but not in pure Alzheimer's disease.

Journal of neurology, neurosurgery, and psychiatry - Oct 2005