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Neurology. Early-onset Alzheimer's disease ( EOAD ), also called younger-onset Alzheimer's disease ( YOAD ), [ 1] is Alzheimer's disease diagnosed before the age of 65. [ 2] It is an uncommon form of Alzheimer's, accounting for only 5–10% of all Alzheimer's cases. About 60% have a positive family history of Alzheimer's and 13% of them are ...
A Japanese pedigree of familial Alzheimer's disease was found to be associated with a deletion mutation of codon 693 of APP. [73] This mutation and its association with Alzheimer's disease was first reported in 2008, [74] and is known as the Osaka mutation. Only homozygotes with this mutation have an increased risk of developing Alzheimer's ...
Neurology. Primary familial brain calcification[ 1] (PFBC), also known as familial idiopathic basal ganglia calcification ( FIBGC) and Fahr's disease, [ 1] is a rare, [ 2] genetically dominant or recessive, inherited neurological disorder characterized by abnormal deposits of calcium in areas of the brain that control movement.
Possible Alzheimer's disease: There is a dementia syndrome with an atypical onset, presentation or progression; and without a known etiology; but no co-morbid diseases capable of producing dementia are believed to be in the origin of it. Unlikely Alzheimer's disease: The patient presents a dementia syndrome with a sudden onset, focal neurologic ...
The mutation is extremely rare – it has only ever been found in two Swedish families and has never been found in the general population in any other countries. The mutation had important consequences for Alzheimer's disease research. The mutation occurs in the gene which encodes amyloid precursor protein (APP), which is proteolysed into beta ...
Fatal insomnia is an extremely rare neurodegenerative prion disease that results in trouble sleeping as its hallmark symptom. [ 2] The majority of cases are familial ( fatal familial insomnia [FFI]), stemming from a mutation in the PRNP gene, with the remainder of cases occurring sporadically ( sporadic fatal insomnia [sFI]).
A neurodegenerative diseaseis caused by the progressive loss of neurons, in the process known as neurodegeneration. [2][3]Neuronal damage may also ultimately result in their death. Neurodegenerative diseases include amyotrophic lateral sclerosis, multiple sclerosis, Parkinson's disease, Alzheimer's disease, Huntington's disease, multiple system ...
Genetic heterogeneity occurs through the production of single or similar phenotypes through different genetic mechanisms. There are two types of genetic heterogeneity: allelic heterogeneity, which occurs when a similar phenotype is produced by different alleles within the same gene; and locus heterogeneity, which occurs when a similar phenotype ...
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