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Table 1 Examples of the Relationship Between Lesions, Proteins and Causal Genes in Neurodegenerative Diseases

From: The therapeutic importance of understanding mechanisms of neuronal cell death in neurodegenerative disease

Disease Lesions Major Protein In Deposit Genetic Alterations
Alzheimer's Plaques

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. 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.