Dementia due to Down syndrome (Q40245): Difference between revisions
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Demência devida à síndrome de Down é um transtorno neurodegenerativo relacionado ao impacto da produçao anormalmente aumentada e ao acúmulo da proteína precursora de amiloide (PPA), levando à formação de placas de beta-amiloide e emaranhados tau. A expressão do gene PPA está aumentada devido a sua localização no cromossomo 21, que se encontra anormalmente triplicado na síndrome de Down. Déficits cognitivos e manifestações neuropatológicas são semelhantes àqueles observadas na doença de Alzheimer. O início ocorre tipicamente após a quarta década de vida, com um declínio gradativo na funcionalidade, e pode afetar 50% ou mais dos indivíduos com a síndrome de Down. | |||
| description / en | description / en | ||
Dementia due to Down syndrome is a neurodegenerative disorder related to the impact of abnormal increased production and accumulation of amyloid precursor protein (APP) leading to formation of beta-amyloid plaques and tau tangles. APP gene expression is increased due to its location on chromosome 21, which is abnormally triplicated in Down syndrome. Cognitive deficits and neuropathological features are similar to those observed in Alzheimer disease. Onset is typically after the fourth decade of life with a gradual decline in functioning, and may impact 50% or more of individuals with Down syndrome. | |||
Revision as of 05:58, 13 August 2026
Dementia due to Down syndrome is a neurodegenerative disorder related to the impact of abnormal increased production and accumulation of amyloid precursor protein (APP) leading to formation of beta-amyloid plaques and tau tangles. APP gene expression is increased due to its location on chromosome 21, which is abnormally triplicated in Down syndrome. Cognitive deficits and neuropathological features are similar to those observed in Alzheimer disease. Onset is typically after the fourth decade of life with a gradual decline in functioning, and may impact 50% or more of individuals with Down syndrome.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 6D85.9 |
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| English | Dementia due to Down syndrome |
Dementia due to Down syndrome is a neurodegenerative disorder related to the impact of abnormal increased production and accumulation of amyloid precursor protein (APP) leading to formation of beta-amyloid plaques and tau tangles. APP gene expression is increased due to its location on chromosome 21, which is abnormally triplicated in Down syndrome. Cognitive deficits and neuropathological features are similar to those observed in Alzheimer disease. Onset is typically after the fourth decade of life with a gradual decline in functioning, and may impact 50% or more of individuals with Down syndrome. |
