Presentation
(Val717Ile) substitution, which was present in 12 subjects from 11 families. Clinical features were typical of AD with amnestic presentation. The c.2137G A, p.(Ala713Thr) mutation was found in 7 patients from 5 unrelated families. [journals.plos.org]
He has been the Editor in Chief, JAMA Neurology (1997- present) and a member of the Editorial Board of JAMA (1997-present). [books.google.de]
The clinical features similar to those presented in the sporadic Alzheimer’s disease patients. Duration of the disease: 4.4-10.8 years. [alzheimer-europe.org]
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
Entire Body System
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Falling
Injuries from falls. People with Alzheimer's may become disoriented, increasing their risk of falls. Falls can lead to fractures. In addition, falls are a common cause of serious head injuries, such as bleeding in the brain. [alzheimersreadingroom.com]
Severity of symptoms: People with significant motor impairment, such as a history of falls and a tendency to wander or walk away, had shorter life expectancies. [healthline.com]
Because of these visual problems combined with the cognitive and memory deficits, individuals with Down syndrome: can get lost in familiar environments, may not be able to perform certain activities, may have accidents and falls, and may have difficulty [emedicinehealth.com]
Musculoskeletal
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Muscle Twitch
A form of muscle twitching and spasm, called myoclonus, is also more common in early-onset Alzheimer's. Late-onset Alzheimer's. This is the most common form of the disease, which happens to people age 65 and older. It may or may not run in families. [webmd.com]
People with early Alzheimer's are more likely to develop muscle twitching and spasms. They may be more active and physically fit than people with late-onset Alzheimer's disease, but decline at a faster rate, according to the Mayo Clinic. [usatoday.com]
Psychiatrical
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Dyslexia
GNAQ Developmental delay, KMT2C related KMT2C DI-CMTB DNM2 DI-CMTC YARS DI-CMTD MPZ Dravet syndrome GABRG2 Dravet syndrome SCN2A Dravet syndrome, modifier of SCN9A Dysautonomia, FRRS1L-related FRRS1L Dyskinesia, familial, with facial myokymia ADCY5 Dyslexia [centogene.com]
Workup
Standard Medical Workup for Alzheimer's Disease. Alzheimer Research Forum [On-line information]. Available online at . Family Caregiver Alliance. Fact Sheet: Alzheimer's Disease [On-line information]. Available online at . [labtestsonline.org]
Standard Medical Workup for Alzheimer's Disease. Alzheimer Research Forum [On-line information]. Available online at through . Family Caregiver Alliance. Fact Sheet: Alzheimer's Disease [On-line information]. Available online at through . [labtestsonline.it]
Treatment
Treatment can also improve your quality of life and help treat symptoms. Talk with your doctor about your treatment options. A study identified several factors that affect a person’s life expectancy. [healthline.com]
Fig 2 Global outcome over 3 years of cholinesterase inhibitor (ChEI) treatment. [alzres.biomedcentral.com]
Other treatments that may play a role in slowing the progress of early-onset Alzheimer disease include physical activity, cardiovascular and diabetes treatments, antioxidants, and cognitive training. [hopkinsmedicine.org]
Prognosis
Prognosis The disease is progressive; patients have deterioration in their behavior, cognition, and ability to perform activities of daily living. At an advanced stage, patients are confined to bed. [orpha.net]
According to the MMSE model, the use of antipsychotics in participants with LOAD implied worse prognosis. [alzres.biomedcentral.com]
Outlook (Prognosis) How quickly AD gets worse is different for each person. If AD develops quickly, it is more likely to worsen quickly. [ufhealth.org]
Etiology
[…] the underlying etiology. [icd10data.com]
Etiology EOAD is the consequence of either PSEN1 mutations (69%), APP mutations (13%), or APP duplication (7,5%), and exceptionally of PSEN2 mutations (2%). [orpha.net]
There may be a further genetic factor involved in the etiology of autosomal dominant early onset AD. Received February 26, 2002. Accepted September 26, 2002. [n.neurology.org]
These findings suggested that these LOAD gene defects played important roles in the pathogenesis of the AD cohort, which may explain the missing genetic etiology of EOAD. [nature.com]
Epidemiology
Journal of Epidemiology and Community Health, 33, 199 – 202. [bjp.rcpsych.org]
Summary Epidemiology EOAD represents less than 1% of all cases of AD. Clinical description Initial findings of EOAD are mainly disorders of episodic memory or changes in behavior. [orpha.net]
Overall, the hypothesis that Alzheimer’s is a metabolic disease remains preliminary and supported by limited evidence in humans beyond epidemiological correlations. [crossfit.com]
[…] are very low, and large epidemiology studies of dementia rarely capture people below 65. [alzforum.org]
Pathophysiology
[…] disease; however, inheriting an APOE ε4 allele does not mean that a person will definitely develop Alzheimer disease. [9, 11] Although research supports the relation of the APOE ε4 variant and the occurrence of LOAD, the full mechanism of action and the pathophysiology [emedicine.medscape.com]
[…] cleavage site for β-secretase, results in an overall higher production of Aβ peptides by increasing the β-secretory cleavage,[22] the Arctic mutation leads to a conformation change of the Aβ peptide and increased formation of toxic Aβ protofibrils.[23] Pathophysiology [en.wikipedia.org]
Pathophysiology In 1984, Glenner first proposed that cerebral A drives all subsequent pathology [44]. [hindawi.com]
Molecular biology and pathophysiological aspects of plasma cholestery ester transfer protein. Biochim Biophys Acta. 1529: 257-275, 2000. 2) Nagano M et al. [bml.co.jp]
Prevention
Prevention / risk reduction There are no proven ways to prevent the development of Alzheimer's disease. However, there is epidemiological evidence to suggest that leading a healthy lifestyle can reduce the risk of Alzheimer's disease. [southerncross.co.nz]
Perlmutter: "[Alzheimer's] is a preventable disease. [articles.mercola.com]
Not enough is known about the causes of Alzheimer's disease for any specific preventative measures to be recommended. [alz.co.uk]
Which means it is also preventable. [smallfootprintfamily.com]
Can Alzheimer's disease be prevented? As the exact cause of Alzheimer's disease is not clear, there's no known way to prevent the condition. [nhs.uk]