GRN Mutations Are Associated with Lewy Body Dementia

Loss‐of‐function mutations in GRN are a cause of familial frontotemporal dementia, and common variants within the gene have been associated with an increased risk of developing Alzheimer's disease and Parkinson's disease. Although TDP‐43‐positive inclusions are characteristic of GRN‐related neurodegeneration, Lewy body copathology has also been observed in many GRN mutation carriers.

[1]  Laurent F. Thomas,et al.  A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimer’s disease , 2021, Nature Genetics.

[2]  M. Nalls,et al.  Evidence for GRN connecting multiple neurodegenerative diseases. , 2021, Brain communications.

[3]  Sonja W. Scholz,et al.  Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture , 2021, Nature Genetics.

[4]  Timothy A. Miller,et al.  Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis. , 2020, Neuron.

[5]  D. Hernandez,et al.  Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies , 2020, Acta Neuropathologica Communications.

[6]  Sonja W. Scholz,et al.  Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies , 2019, The Lancet Neurology.

[7]  Alan J. Thomas,et al.  Diagnosis and management of dementia with Lewy bodies , 2017, Neurology.

[8]  Param Priya Singh,et al.  Progranulin, lysosomal regulation and neurodegenerative disease , 2017, Nature Reviews Neuroscience.

[9]  A. Chiò,et al.  Age-related penetrance of the C9orf72 repeat expansion , 2017, Scientific Reports.

[10]  James W Ironside,et al.  Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource , 2017, Genome research.

[11]  Michelle K. Cahill,et al.  Progranulin Deficiency Promotes Circuit-Specific Synaptic Pruning by Microglia via Complement Activation , 2016, Cell.

[12]  Xiaowei Zhan,et al.  RVTESTS: an efficient and comprehensive tool for rare variant association analysis using sequence data , 2016, Bioinform..

[13]  T. Ferman,et al.  Clinicopathologic variability of the GRN A9D mutation, including amyotrophic lateral sclerosis , 2013, Neurology.

[14]  M. Rieder,et al.  Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies. , 2012, American journal of human genetics.

[15]  J. Trojanowski,et al.  A harmonized classification system for FTLD-TDP pathology , 2011, Acta Neuropathologica.

[16]  Sonja W. Scholz,et al.  Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS , 2010, Neuron.

[17]  H. Hakonarson,et al.  ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data , 2010, Nucleic acids research.

[18]  C. Jack,et al.  Prominent phenotypic variability associated with mutations in Progranulin , 2009, Neurobiology of Aging.

[19]  Baorong Zhang,et al.  A novel Twinkle (PEO1) gene mutation in a Chinese family with adPEO , 2008, Molecular vision.

[20]  D. Dickson,et al.  Progranulin gene mutation with an unusual clinical and neuropathologic presentation , 2008, Movement disorders : official journal of the Movement Disorder Society.

[21]  Eric Guedj,et al.  Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study. , 2008, Brain : a journal of neurology.

[22]  C. Haass,et al.  Missense Mutations in the Progranulin Gene Linked to Frontotemporal Lobar Degeneration with Ubiquitin-immunoreactive Inclusions Reduce Progranulin Production and Secretion* , 2008, Journal of Biological Chemistry.

[23]  K. Sleegers,et al.  Alzheimer and Parkinson diagnoses in progranulin null mutation carriers in an extended founder family. , 2007, Archives of neurology.

[24]  E. Tolosa,et al.  Clinical diagnostic criteria for dementia associated with Parkinson's disease , 2007, Movement disorders : official journal of the Movement Disorder Society.

[25]  S. Melquist,et al.  Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration. , 2006, Human molecular genetics.

[26]  J. Morris,et al.  HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin‐positive, tau‐negative inclusions caused by a missense mutation in the signal peptide of progranulin , 2006, Annals of neurology.

[27]  S. Melquist,et al.  Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17 , 2006, Nature.

[28]  A. Miyashita,et al.  A mutant PSEN1 causes dementia with lewy bodies and variant Alzheimer's disease , 2005, Annals of neurology.

[29]  Thomas Meitinger,et al.  Mutations in LRRK2 Cause Autosomal-Dominant Parkinsonism with Pleomorphic Pathology , 2004, Neuron.

[30]  C. H. Ong,et al.  Progranulin is a mediator of the wound response , 2003, Nature Medicine.