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Alzheimer disease 2(AD2)

MedGen UID:
400197
Concept ID:
C1863051
Disease or Syndrome
Synonyms: AD2; ALZHEIMER DISEASE 2, LATE-ONSET; Alzheimer disease associated with APOE E4; ALZHEIMER DISEASE ASSOCIATED WITH APOE4; Late-onset familial alzheimer disease
SNOMED CT: Familial Alzheimer disease of late onset (230267005); Familial Alzheimer's disease of late onset (230267005)
 
Gene (location): APOE (19q13.32)
 
Monarch Initiative: MONDO:0007089
OMIM®: 104310

Definition

Alzheimer'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.

Individuals 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).

Memory 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.

As 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.

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. [from MedlinePlus Genetics]

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.
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.
Parkinsonian disorder
MedGen UID:
66079
Concept ID:
C0242422
Disease or Syndrome
Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.
Dementia
MedGen UID:
99229
Concept ID:
C0497327
Mental or Behavioral Dysfunction
A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.
Long-tract signs
MedGen UID:
356397
Concept ID:
C1865903
Finding
Long-tract signs refer to symptoms that are attributable to the involvement of the long fiber tracts in the spinal cord, which connect the spinal cord to the brain and mediate spinal and motor functions.

Recent clinical studies

Etiology

Lubetzky AV, Gospodarek M, Arie L, Kelly J, Roginska A, Cosetti M
JAMA Otolaryngol Head Neck Surg 2020 May 1;146(5):480-487. doi: 10.1001/jamaoto.2020.0032. PMID: 32163114
Cho H, Choi JY, Lee HS, Lee JH, Ryu YH, Lee MS, Jack CR Jr, Lyoo CH
J Nucl Med 2019 Nov;60(11):1611-1621. Epub 2019 Mar 29 doi: 10.2967/jnumed.118.221697. PMID: 30926651Free PMC Article
Prineas JW, Parratt JD, Kirwan PD
J Neuropathol Exp Neurol 2016 Sep;75(9):855-67. Epub 2016 Jul 21 doi: 10.1093/jnen/nlw061. PMID: 27444353Free PMC Article
Josephs KA, Ahlskog JE, Parisi JE, Boeve BF, Crum BA, Giannini C, Petersen RC
Arch Neurol 2009 Feb;66(2):201-7. doi: 10.1001/archneurol.2008.534. PMID: 19204156Free PMC Article
Frecker MF, Pryse-Phillips WE, Strong HR
Can J Neurol Sci 1994 May;21(2):112-9. doi: 10.1017/s0317167100049027. PMID: 8087735

Diagnosis

Axmon A, Sandberg M, Ahlström G
BMC Psychiatry 2017 May 22;17(1):192. doi: 10.1186/s12888-017-1353-8. PMID: 28532510Free PMC Article
Ciolli L, Poggesi A, Salvadori E, Valenti R, Nannucci S, Pasi M, Pescini F, Inzitari D, Pantoni L
Neurol Sci 2012 Dec;33(6):1277-83. Epub 2012 Jan 19 doi: 10.1007/s10072-012-0941-0. PMID: 22258361
Josephs KA, Ahlskog JE, Parisi JE, Boeve BF, Crum BA, Giannini C, Petersen RC
Arch Neurol 2009 Feb;66(2):201-7. doi: 10.1001/archneurol.2008.534. PMID: 19204156Free PMC Article

Therapy

Bunch TJ, May HT, Bair TL, Crandall BG, Cutler MJ, Day JD, Jacobs V, Mallender C, Osborn JS, Stevens SM, Weiss JP, Woller SC
J Am Heart Assoc 2016 Jul 11;5(7) doi: 10.1161/JAHA.116.003932. PMID: 27402230Free PMC Article

Prognosis

Cho H, Choi JY, Lee HS, Lee JH, Ryu YH, Lee MS, Jack CR Jr, Lyoo CH
J Nucl Med 2019 Nov;60(11):1611-1621. Epub 2019 Mar 29 doi: 10.2967/jnumed.118.221697. PMID: 30926651Free PMC Article
Ciolli L, Poggesi A, Salvadori E, Valenti R, Nannucci S, Pasi M, Pescini F, Inzitari D, Pantoni L
Neurol Sci 2012 Dec;33(6):1277-83. Epub 2012 Jan 19 doi: 10.1007/s10072-012-0941-0. PMID: 22258361
Josephs KA, Ahlskog JE, Parisi JE, Boeve BF, Crum BA, Giannini C, Petersen RC
Arch Neurol 2009 Feb;66(2):201-7. doi: 10.1001/archneurol.2008.534. PMID: 19204156Free PMC Article

Clinical prediction guides

Lubetzky AV, Gospodarek M, Arie L, Kelly J, Roginska A, Cosetti M
JAMA Otolaryngol Head Neck Surg 2020 May 1;146(5):480-487. doi: 10.1001/jamaoto.2020.0032. PMID: 32163114

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