Converging pathways in neurodegeneration, from genetics to mechanisms

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

Research output: Contribution to journalReview article

21 Citations (Scopus)

Abstract

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
Volume21
Issue number10
DOIs
StatePublished - Oct 1 2018

Fingerprint

Neurodegenerative Diseases
Medical Genetics
Rare Diseases
Innate Immunity
Quality Control
Fruit
Homeostasis
Alleles
Mutation
Research
Population
Proteins
Therapeutics

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Converging pathways in neurodegeneration, from genetics to mechanisms. / Gan, Li; Cookson, Mark R.; Petrucelli, Leonard; La Spada, Albert R.

In: Nature Neuroscience, Vol. 21, No. 10, 01.10.2018, p. 1300-1309.

Research output: Contribution to journalReview article

Gan, Li ; Cookson, Mark R. ; Petrucelli, Leonard ; La Spada, Albert R. / Converging pathways in neurodegeneration, from genetics to mechanisms. In: Nature Neuroscience. 2018 ; Vol. 21, No. 10. pp. 1300-1309.
@article{0e5c86c4b57b4ef5ac9e86bb4e7a4266,
title = "Converging pathways in neurodegeneration, from genetics to mechanisms",
abstract = "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.",
author = "Li Gan and Cookson, {Mark R.} and Leonard Petrucelli and {La Spada}, {Albert R.}",
year = "2018",
month = "10",
day = "1",
doi = "10.1038/s41593-018-0237-7",
language = "English (US)",
volume = "21",
pages = "1300--1309",
journal = "Nature Neuroscience",
issn = "1097-6256",
publisher = "Nature Publishing Group",
number = "10",

}

TY - JOUR

T1 - Converging pathways in neurodegeneration, from genetics to mechanisms

AU - Gan, Li

AU - Cookson, Mark R.

AU - Petrucelli, Leonard

AU - La Spada, Albert R.

PY - 2018/10/1

Y1 - 2018/10/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=85054154433&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85054154433&partnerID=8YFLogxK

U2 - 10.1038/s41593-018-0237-7

DO - 10.1038/s41593-018-0237-7

M3 - Review article

C2 - 30258237

AN - SCOPUS:85054154433

VL - 21

SP - 1300

EP - 1309

JO - Nature Neuroscience

JF - Nature Neuroscience

SN - 1097-6256

IS - 10

ER -