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Alzheimer disease 10

MedGen UID:
351228
Concept ID:
C1864828
Disease or Syndrome
Synonym: ALZHEIMER DISEASE, FAMILIAL, 10
 
Monarch Initiative: MONDO:0012321
OMIM®: 609636

Definition

An Alzheimer's disease that is characterized by an associated with variation in the region 7q36. [from MONDO]

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.
Abnormality of speech or vocalization
MedGen UID:
11531
Concept ID:
C0037822
Disease or Syndrome
Abnormalities in the sound of a person's speech or vocalization are not necessarily associated with a known physical cause or due to stuttering or stammering.
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.
Personality changes
MedGen UID:
66817
Concept ID:
C0240735
Mental or Behavioral Dysfunction
An abnormal shift in patterns of thinking, acting, or feeling.
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.
Cerebral cortical atrophy
MedGen UID:
1646740
Concept ID:
C4551583
Disease or Syndrome
Atrophy of the cortex of the cerebrum.

Recent clinical studies

Etiology

van den Bosch KA, Verberk IMW, Ebenau JL, van der Lee SJ, Jansen IE, Prins ND, Scheltens P, Teunissen CE, Van der Flier WM
Neurobiol Aging 2021 Dec;108:146-154. Epub 2021 Sep 4 doi: 10.1016/j.neurobiolaging.2021.08.018. PMID: 34601245
Galvin JE, Roe CM, Morris JC
Arch Neurol 2007 May;64(5):718-24. doi: 10.1001/archneur.64.5.718. PMID: 17502471
Kuzis G, Sabe L, Tiberti C, Merello M, Leiguarda R, Starkstein SE
Neuropsychiatry Neuropsychol Behav Neurol 1999 Oct;12(4):265-9. PMID: 10527111
Nagaratnam N, Lewis-Jones M, Scott D, Palazzi L
Alzheimer Dis Assoc Disord 1998 Dec;12(4):330-4. doi: 10.1097/00002093-199812000-00013. PMID: 9876961

Diagnosis

Borroni B, Malinverno M, Gardoni F, Alberici A, Parnetti L, Premi E, Bonuccelli U, Grassi M, Perani D, Calabresi P, Di Luca M, Padovani A
Neurology 2008 Nov 25;71(22):1796-803. Epub 2008 Oct 29 doi: 10.1212/01.wnl.0000335941.68602.39. PMID: 18971445
Galvin JE, Roe CM, Morris JC
Arch Neurol 2007 May;64(5):718-24. doi: 10.1001/archneur.64.5.718. PMID: 17502471
Nagaratnam N, Lewis-Jones M, Scott D, Palazzi L
Alzheimer Dis Assoc Disord 1998 Dec;12(4):330-4. doi: 10.1097/00002093-199812000-00013. PMID: 9876961
Lehéricy S, Baulac M, Chiras J, Piérot L, Martin N, Pillon B, Deweer B, Dubois B, Marsault C
AJNR Am J Neuroradiol 1994 May;15(5):929-37. PMID: 8059663Free PMC Article

Therapy

Krol S, Macrez R, Docagne F, Defer G, Laurent S, Rahman M, Hajipour MJ, Kehoe PG, Mahmoudi M
Chem Rev 2013 Mar 13;113(3):1877-903. Epub 2012 Nov 19 doi: 10.1021/cr200472g. PMID: 23157552

Prognosis

Borroni B, Malinverno M, Gardoni F, Alberici A, Parnetti L, Premi E, Bonuccelli U, Grassi M, Perani D, Calabresi P, Di Luca M, Padovani A
Neurology 2008 Nov 25;71(22):1796-803. Epub 2008 Oct 29 doi: 10.1212/01.wnl.0000335941.68602.39. PMID: 18971445
Galvin JE, Roe CM, Morris JC
Arch Neurol 2007 May;64(5):718-24. doi: 10.1001/archneur.64.5.718. PMID: 17502471

Clinical prediction guides

Borroni B, Malinverno M, Gardoni F, Alberici A, Parnetti L, Premi E, Bonuccelli U, Grassi M, Perani D, Calabresi P, Di Luca M, Padovani A
Neurology 2008 Nov 25;71(22):1796-803. Epub 2008 Oct 29 doi: 10.1212/01.wnl.0000335941.68602.39. PMID: 18971445
Galvin JE, Roe CM, Morris JC
Arch Neurol 2007 May;64(5):718-24. doi: 10.1001/archneur.64.5.718. PMID: 17502471
Lehéricy S, Baulac M, Chiras J, Piérot L, Martin N, Pillon B, Deweer B, Dubois B, Marsault C
AJNR Am J Neuroradiol 1994 May;15(5):929-37. PMID: 8059663Free PMC Article

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