Variant & Polymorphism
SNP
, other
| over-representation of the soluble four repeats tau isoforms which may need a genetic defect in tau and a mitochondrial defect either genetic or toxic leading to tau aggregation |
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SNP H1 preferentially associated with Parkinson disease and H1C with Alzheimer disease |
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SNP 14 and 21 increasing the risk of progressive supranuclear palsy and corticobasal degeneration |
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genotypes at SNP9 interact with SNP6 genotypes to increase risk of amyotrophic lateral sclerosis-parkinsonsim/dementia complex of Guam |
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H1 haplotype increased in neurodegenerative disorders such as progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), frontotemporal dementia (FTD) and Parkinson's disease (PD) |
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H2 haplotype has been found to be related to familial FTD |
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; H1 haplotype is associated with a particular cerebral morphology that may increase the susceptibility of the healthy carriers to develop neurodegenerative diseases such as sporadic tauopathies |
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