Table 1 |
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Examples of the Relationship Between Lesions, Proteins and Causal Genes in Neurodegenerative Diseases |
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| Disease |
Lesions |
Major Protein In Deposit |
Genetic Alterations |
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| Alzheimer's |
Plaques NFT |
Aβ tau |
Mutations/Multiplication in APP and Presenilin genes cause altered Aβ production |
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| Parkinson's (classic)1 |
Lewy Body |
α-synuclein |
Mutation/Multiplication of α-synuclein gene |
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| FTDP-17tau |
NFT |
tau |
Mutations in tau |
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| FTLDu |
Ubiquitin positive inclusions |
TDP-43 |
Mutations in Granulin gene, evidence that Granulin interacts with TDP-43 |
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| Polyglutamine Diseases (e.g. Huntington's, SCA) |
Inclusions of expanded Poly Q protein |
PolyQ encoding protein |
Expanded CAG repeats encoded stretches of Poly Q |
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| ALS |
Ubiquitin positive inclusions |
TDP-43 |
Mutations in TDP-43 |
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| ALS |
Ubiquitin positive inclusions |
Inclusions are TDP negative |
Mutations in SOD1 |
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1 Numerous genes have now been implicated in Parkinsonism, some of these genes result in classic Lewy body pathology others do not, and some such as LRRK2 can produce distinct pathologies even within a single family. |
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Golde Molecular Neurodegeneration 2009 4:8 doi:10.1186/1750-1326-4-8 |
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