Table 1

Examples of the Relationship Between Lesions, Proteins and Causal Genes in Neurodegenerative Diseases

Disease
Lesions
Major Protein In Deposit
Genetic Alterations

Alzheimer's
Plaques
NFT
Aβ
tau
Mutations/Multiplication in APP and Presenilin genes cause altered Aβ production

Parkinson's (classic)1
Lewy Body
α-synuclein
Mutation/Multiplication of α-synuclein gene

FTDP-17tau
NFT
tau
Mutations in tau

FTLDu
Ubiquitin positive inclusions
TDP-43
Mutations in Granulin gene, evidence that Granulin interacts with TDP-43

Polyglutamine Diseases (e.g. Huntington's, SCA)
Inclusions of expanded Poly Q protein
PolyQ encoding protein
Expanded CAG repeats encoded stretches of Poly Q

ALS
Ubiquitin positive inclusions
TDP-43
Mutations in TDP-43

ALS
Ubiquitin positive inclusions
Inclusions are TDP negative
Mutations in SOD1

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.

Golde Molecular Neurodegeneration 2009 4:8   doi:10.1186/1750-1326-4-8

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