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Alzheimer disease 9(AD9)

MedGen UID:
924255
Concept ID:
C4282179
Finding
Synonyms: ALZHEIMER DISEASE 9, LATE-ONSET; ALZHEIMER DISEASE 9, SUSCEPTIBILITY TO
 
Gene (location): ABCA7 (19p13.3)
 
Monarch Initiative: MONDO:0012153
OMIM®: 608907

Clinical features

From HPO
Alzheimer disease
MedGen UID:
1853
Concept ID:
C0002395
Disease or Syndrome
Alzheimer's disease is a degenerative disease of the brain that causes dementia, which is a gradual loss of memory, judgment, and ability to function. This disorder usually appears in people older than age 65, but less common forms of the disease appear earlier in adulthood.\n\nMemory loss is the most common sign of Alzheimer's disease. Forgetfulness may be subtle at first, but the loss of memory worsens over time until it interferes with most aspects of daily living. Even in familiar settings, a person with Alzheimer's disease may get lost or become confused. Routine tasks such as preparing meals, doing laundry, and performing other household chores can be challenging. Additionally, it may become difficult to recognize people and name objects. Affected people increasingly require help with dressing, eating, and personal care.\n\nAs the disorder progresses, some people with Alzheimer's disease experience personality and behavioral changes and have trouble interacting in a socially appropriate manner. Other common symptoms include agitation, restlessness, withdrawal, and loss of language skills. People with Alzheimer's disease usually require total care during the advanced stages of the disease.\n\nIndividuals with Alzheimer's disease usually survive 8 to 10 years after the appearance of symptoms, but the course of the disease can range from 1 to 25 years. Survival is usually shorter in individuals diagnosed after age 80 than in those diagnosed at a younger age. In Alzheimer's disease, death usually results from pneumonia, malnutrition, or general body wasting (inanition).\n\nAlzheimer's disease can be classified as early-onset or late-onset. The signs and symptoms of the early-onset form appear between a person's thirties and mid-sixties, while the late-onset form appears during or after a person's mid-sixties. The early-onset form of Alzheimer's disease is much less common than the late-onset form, accounting for less than 10 percent of all cases of Alzheimer's disease.
Depression
MedGen UID:
4229
Concept ID:
C0011581
Mental or Behavioral Dysfunction
Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.
Neurofibrillary tangles
MedGen UID:
39273
Concept ID:
C0085400
Finding
Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form.
Memory impairment
MedGen UID:
68579
Concept ID:
C0233794
Mental or Behavioral Dysfunction
An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.
Abnormality of extrapyramidal motor function
MedGen UID:
115941
Concept ID:
C0234133
Sign or Symptom
A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).
Senile plaques
MedGen UID:
83079
Concept ID:
C0333463
Acquired Abnormality
Senile plaques are extracellular deposits of amyloid in the gray matter of the brain.
Disinhibition
MedGen UID:
633911
Concept ID:
C0474398
Finding
Reduced ability to control, or a failure to resist a temptation, urge, or impulse. Examples include disregard for social conventions, general impulsivity, and poor risk assessment.
Hippocampal atrophy
MedGen UID:
939097
Concept ID:
C4315130
Disease or Syndrome
Partial or complete wasting (loss) of hippocampus tissue that was once present.
Cerebral cortical atrophy
MedGen UID:
1646740
Concept ID:
C4551583
Disease or Syndrome
Atrophy of the cortex of the cerebrum.

Recent clinical studies

Etiology

Tan L, Yu JT, Zhang W, Wu ZC, Zhang Q, Liu QY, Wang W, Wang HF, Ma XY, Cui WZ
Alzheimers Dement 2013 Sep;9(5):546-53. Epub 2012 Dec 8 doi: 10.1016/j.jalz.2012.08.007. PMID: 23232270
Zach P, Kristofiková Z, Mrzílková J, Majer E, Selinger P, Spaniel F, Rípová D, Kenney J
Curr Alzheimer Res 2009 Feb;6(1):69-76. doi: 10.2174/156720509787313907. PMID: 19199877
Rankin KP, Liu AA, Howard S, Slama H, Hou CE, Shuster K, Miller BL
Cogn Behav Neurol 2007 Mar;20(1):48-61. doi: 10.1097/WNN.0b013e31803141dd. PMID: 17356345Free PMC Article

Diagnosis

Tan L, Yu JT, Zhang W, Wu ZC, Zhang Q, Liu QY, Wang W, Wang HF, Ma XY, Cui WZ
Alzheimers Dement 2013 Sep;9(5):546-53. Epub 2012 Dec 8 doi: 10.1016/j.jalz.2012.08.007. PMID: 23232270
Rankin KP, Liu AA, Howard S, Slama H, Hou CE, Shuster K, Miller BL
Cogn Behav Neurol 2007 Mar;20(1):48-61. doi: 10.1097/WNN.0b013e31803141dd. PMID: 17356345Free PMC Article

Clinical prediction guides

Tan L, Yu JT, Zhang W, Wu ZC, Zhang Q, Liu QY, Wang W, Wang HF, Ma XY, Cui WZ
Alzheimers Dement 2013 Sep;9(5):546-53. Epub 2012 Dec 8 doi: 10.1016/j.jalz.2012.08.007. PMID: 23232270
Zach P, Kristofiková Z, Mrzílková J, Majer E, Selinger P, Spaniel F, Rípová D, Kenney J
Curr Alzheimer Res 2009 Feb;6(1):69-76. doi: 10.2174/156720509787313907. PMID: 19199877

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