Converging pathways in neurodegeneration, from genetics to mechanisms

Li Gan, Mark R. Cookson, Leonard Petrucelli, Albert R. La Spada

Research output: Contribution to journalReview articlepeer-review

111 Scopus citations


Neurodegenerative diseases cause progressive loss of cognitive and/or motor function and pose major challenges for societies with rapidly aging populations. Human genetics studies have shown that disease-causing rare mutations and risk-associated common alleles overlap in different neurodegenerative disorders. Here we review the intricate genotype–phenotype relationships and common cellular pathways emerging from recent genetic and mechanistic studies. Shared pathological mechanisms include defective protein quality-control and degradation pathways, dysfunctional mitochondrial homeostasis, stress granules, and maladaptive innate immune responses. Research efforts have started to bear fruit, as shown by recent treatment successes and an encouraging therapeutic outlook.

Original languageEnglish (US)
Pages (from-to)1300-1309
Number of pages10
JournalNature Neuroscience
Issue number10
StatePublished - Oct 1 2018

ASJC Scopus subject areas

  • General Neuroscience


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