The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis

Invited Review: Decoding the pathophysiological mechanisms that underlie RNA dysregulation in neurodegenerative disorders: a review of the current state of the art

(2015) Matthew J. Walsh et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype

(2014) Johnathan Cooper-Knock et al.   ACTA NEUROPATHOLOGICA

C9orf72 FTLD/ALS-associated Gly-Ala dipeptide repeat proteins cause neuronal toxicity and Unc119 sequestration

(2014) Stephanie May et al.   ACTA NEUROPATHOLOGICA

C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD

(2014) Elaine Y. Liu et al.   ACTA NEUROPATHOLOGICA

TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions

(2014) Michael D. Gallagher et al.   ACTA NEUROPATHOLOGICA

TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia

(2014) Marka van Blitterswijk et al.   ACTA NEUROPATHOLOGICA

Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions

(2014) Johnathan Cooper-Knock et al.   BRAIN

Hypermethylation of the CpG-island near the C9orf72 G4C2-repeat expansion in FTLD patients

(2014) Zhengrui Xi et al.   HUMAN MOLECULAR GENETICS

C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking

(2014) Manal A. Farg et al.   HUMAN MOLECULAR GENETICS

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions inC9orf72reveals marked differences in results among 14 laboratories

(2014) Chizuru Akimoto et al.   JOURNAL OF MEDICAL GENETICS

Cognitive correlates in amyotrophic lateral sclerosis: a population-based study in Italy

(2014) A. Montuschi et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

C9orf72 nucleotide repeat structures initiate molecular cascades of disease

(2014) Aaron R. Haeusler et al.   NATURE

Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion

(2014) Adrian J. Waite et al.   NEUROBIOLOGY OF AGING

Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers

(2014) Marka van Blitterswijk et al.   NEUROBIOLOGY OF AGING

Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders

(2014) S. Lattante et al.   NEUROLOGY

Discovery of a Biomarker and Lead Small Molecules to Target r(GGGGCC)-Associated Defects in c9FTD/ALS

(2014) Zhaoming Su et al.   NEURON

C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins

(2014) S. Mizielinska et al.   SCIENCE

Poly-dipeptides encoded by the C9orf72 repeats bind nucleoli, impede RNA biogenesis, and kill cells

(2014) I. Kwon et al.   SCIENCE

Analysis of theC9orf72gene in spinal muscular atrophy patients

(2014) Laura Alías et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Multiple System Atrophy and Amyotrophic Lateral Sclerosis in a Family With Hexanucleotide Repeat Expansions inC9orf72

(2014) Jill S. Goldman et al.   JAMA Neurology

Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72

(2014) Yvonne S Davidson et al.   Acta Neuropathologica Communications

Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia

(2013) Pietro Fratta et al.   ACTA NEUROPATHOLOGICA

C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci

(2013) Sarah Mizielinska et al.   ACTA NEUROPATHOLOGICA

Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins

(2013) Kohji Mori et al.   ACTA NEUROPATHOLOGICA

Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS

(2013) Tania F. Gendron et al.   ACTA NEUROPATHOLOGICA

Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood

(2013) Veronique V. Belzil et al.   ACTA NEUROPATHOLOGICA

Hypermethylation of the CpG Island Near the G4C2 Repeat in ALS with a C9orf72 Expansion

(2013) Zhengrui Xi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than Expected in the UK Population

(2013) Jon Beck et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Stages of pTDP-43 pathology in amyotrophic lateral sclerosis

(2013) Johannes Brettschneider et al.   ANNALS OF NEUROLOGY

The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs

(2013) Timothy P. Levine et al.   BIOINFORMATICS

C9ORF72 expansion in a family with bipolar disorder

(2013) Miriam H Meisler et al.   BIPOLAR DISORDERS

C9orf72 repeat expansions are a rare genetic cause of parkinsonism

(2013) Suzanne Lesage et al.   BRAIN

Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia

(2013) O. Dols-Icardo et al.   HUMAN MOLECULAR GENETICS

The Disease-associated r(GGGGCC)nRepeat from theC9orf72Gene Forms Tract Length-dependent Uni- and Multimolecular RNA G-quadruplex Structures

(2013) Kaalak Reddy et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

TMEM106B p.T185S regulates TMEM106B protein levels: implications for frontotemporal dementia

(2013) Alexandra M. Nicholson et al.   JOURNAL OF NEUROCHEMISTRY

Genetic counselling in ALS: facts, uncertainties and clinical suggestions

(2013) A. Chio et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study

(2013) Marka van Blitterswijk et al.   LANCET NEUROLOGY

Simultaneous and independent detection of C9ORF72 alleles with low and high number of GGGGCC repeats using an optimised protocol of Southern blot hybridisation

(2013) Vladimir L Buchman et al.   Molecular Neurodegeneration

The mouse C9ORF72 ortholog is enriched in neurons known to degenerate in ALS and FTD

(2013) Naoki Suzuki et al.   NATURE NEUROSCIENCE

State of play in amyotrophic lateral sclerosis genetics

(2013) Alan E Renton et al.   NATURE NEUROSCIENCE

Frequency of C9orf72 repeat expansions in amyotrophic lateral sclerosis: a Belgian cohort study

(2013) Sarah Debray et al.   NEUROBIOLOGY OF AGING

C9orf72 G4C2 repeat expansions in Alzheimer's disease and mild cognitive impairment

(2013) Rita Cacace et al.   NEUROBIOLOGY OF AGING

Residual association at C9orf72 suggests an alternative amyotrophic lateral sclerosis-causing hexanucleotide repeat

(2013) Ashley R. Jones et al.   NEUROBIOLOGY OF AGING

Polymerase chain reaction and Southern blot-based analysis of the C9orf72 hexanucleotide repeat in different motor neuron diseases

(2013) Annemarie Hübers et al.   NEUROBIOLOGY OF AGING

Analysis of the hexanucleotide repeat expansion and founder haplotype at C9ORF72 in an Irish psychosis case-control sample

(2013) Ciara Fahey et al.   NEUROBIOLOGY OF AGING

C9orf72 repeat expansions are restricted to the ALS-FTD spectrum

(2013) Nicola Ticozzi et al.   NEUROBIOLOGY OF AGING

The C9ORF72 hexanucleotide repeat expansion is a rare cause of schizophrenia

(2013) Daniela Galimberti et al.   NEUROBIOLOGY OF AGING

C9ORF72 transcription in a frontotemporal dementia case with two expanded alleles

(2013) J. Cooper-Knock et al.   NEUROLOGY

C9ORF72 expansions, parkinsonism, and Parkinson disease: A clinicopathologic study

(2013) J. Cooper-Knock et al.   NEUROLOGY

C9ORF72 hexanucleotide expansions of 20-22 repeats are associated with frontotemporal deterioration

(2013) E. Gomez-Tortosa et al.   NEUROLOGY

C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies

(2013) D. J. Hensman Moss et al.   NEUROLOGY

RNA Toxicity from the ALS/FTD C9ORF72 Expansion Is Mitigated by Antisense Intervention

(2013) Christopher J. Donnelly et al.   NEURON

RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia

(2013) T. Zu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration

(2013) C. Lagier-Tourenne et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS

(2013) K. Mori et al.   SCIENCE

Targeting RNA Foci in iPSC-Derived Motor Neurons from ALS Patients with a C9ORF72 Repeat Expansion

(2013) D. Sareen et al.   Science Translational Medicine

Hereditary spastic paraplegia is not associated with C9ORF72 repeat expansions in a Danish cohort

(2013) T T Nielsen et al.   SPINAL CORD

C9orf72 mutation is rare in Alzheimer's disease, Parkinson's disease, and essential tremor in China

(2013) Bin Jiao et al.   Frontiers in Cellular Neuroscience

Hexanucleotide Repeats in ALS/FTD Form Length-Dependent RNA Foci, Sequester RNA Binding Proteins, and Are Neurotoxic

(2013) Youn-Bok Lee et al.   Cell Reports

Intermediate repeat expansion length in C9orf72 may be pathological in amyotrophic lateral sclerosis

(2013) Susan Byrne et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

C9orf72 Hexanucleotide Repeat Expansion and Guam Amyotrophic Lateral Sclerosis–Parkinsonism-Dementia Complex

(2013) Beth A. Dombroski et al.   JAMA Neurology

C9orf72 Hexanucleotide Repeat Expansions in Clinical Alzheimer Disease

(2013) Matthew Harms et al.   JAMA Neurology

Dipeptide repeat proteins are present in the p62 positive inclusions in patients with frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72

(2013) David MA Mann et al.   Acta Neuropathologica Communications

Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9p

(2012) Heather Stewart et al.   ACTA NEUROPATHOLOGICA

C9ORF72 Repeat Expansion in Amyotrophic Lateral Sclerosis in the Kii Peninsula of Japan

(2012) Hiroyuki Ishiura et al.   ARCHIVES OF NEUROLOGY

Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72

(2012) A. Chio et al.   BRAIN

Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p

(2012) G.-Y. R. Hsiung et al.   BRAIN

Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72

(2012) Johnathan Cooper-Knock et al.   BRAIN

Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations

(2012) J. S. Snowden et al.   BRAIN

The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions

(2012) Javier Simón-Sánchez et al.   BRAIN

Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72

(2012) Bradley F. Boeve et al.   BRAIN

Corticobasal and ataxia syndromes widen the spectrum ofC9ORF72hexanucleotide expansion disease

(2012) SG Lindquist et al.   CLINICAL GENETICS

The C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founder

(2012) Bradley N Smith et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Analysis of theC9orf72Gene in Patients with Amyotrophic Lateral Sclerosis in Spain and Different Populations Worldwide

(2012) Alberto García-Redondo et al.   HUMAN MUTATION

A Pan-European Study of theC9orf72Repeat Associated with FTLD: Geographic Prevalence, Genomic Instability, and Intermediate Repeats

(2012) Julie van der Zee et al.   HUMAN MUTATION

Phenotype difference between ALS patients with expanded repeats inC9ORF72and patients with mutations in other ALS-related genes

(2012) Stéphanie Millecamps et al.   JOURNAL OF MEDICAL GENETICS

Japanese amyotrophic lateral sclerosis patients with GGGGCC hexanucleotide repeat expansion in C9ORF72

(2012) T. Konno et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study

(2012) Susan Byrne et al.   LANCET NEUROLOGY

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

(2012) Elisa Majounie et al.   LANCET NEUROLOGY

Inhibition of RNA lariat debranching enzyme suppresses TDP-43 toxicity in ALS disease models

(2012) Maria Armakola et al.   NATURE GENETICS

Divergent roles of ALS-linked proteins FUS/TLS and TDP-43 intersect in processing long pre-mRNAs

(2012) Clotilde Lagier-Tourenne et al.   NATURE NEUROSCIENCE

Repeat expansions in the C9ORF72 gene contribute to Alzheimer's disease in Caucasians

(2012) Martin A. Kohli et al.   NEUROBIOLOGY OF AGING

C9ORF72 repeat expansions not detected in a group of patients with schizophrenia

(2012) Edward D. Huey et al.   NEUROBIOLOGY OF AGING

C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts

(2012) C. Dobson-Stone et al.   NEUROLOGY

C9ORF72 hexanucleotide repeat expansions in patients with ALS from the Coriell Cell Repository

(2012) N. J. Rutherford et al.   NEUROLOGY

Frontotemporal dementia due to C9ORF72 mutations: Clinical and imaging features

(2012) S. J. Sha et al.   NEUROLOGY

Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases

(2012) W. van Rheenen et al.   NEUROLOGY

Repeat Expansion inC9ORF72in Alzheimer's Disease

(2012) Elisa Majounie et al.   NEW ENGLAND JOURNAL OF MEDICINE

Genetic counseling for FTD/ALS caused by the C9ORF72 hexanucleotide expansion

(2012) Jamie C Fong et al.   Alzheimers Research & Therapy

p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS

(2011) Safa Al-Sarraj et al.   ACTA NEUROPATHOLOGICA

Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72

(2011) Melissa E. Murray et al.   ACTA NEUROPATHOLOGICA

The syndrome of cognitive impairment in amyotrophic lateral sclerosis: a population-based study

(2011) Julie Phukan et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study

(2011) Ilse Gijselinck et al.   LANCET NEUROLOGY

Molecular pathways of motor neuron injury in amyotrophic lateral sclerosis

(2011) Laura Ferraiuolo et al.   Nature Reviews Neurology

The chromosome 9 ALS and FTD locus is probably derived from a single founder

(2011) Kin Mok et al.   NEUROBIOLOGY OF AGING

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

(2011) Mariely DeJesus-Hernandez et al.   NEURON

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

(2011) Alan E. Renton et al.   NEURON

Identification of 2 Loci at Chromosomes 9 and 14 in a Multiplex Family With Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis

(2010) Ilse Gijselinck et al.   ARCHIVES OF NEUROLOGY

Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family

(2010) A. L. Boxer et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study

(2010) Aleksey Shatunov et al.   LANCET NEUROLOGY

Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS

(2010) Andrew C. Elden et al.   NATURE

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions

(2010) Vivianna M Van Deerlin et al.   NATURE GENETICS

Ubiquitinated, p62 immunopositive cerebellar cortical neuronal inclusions are evident across the spectrum of TDP-43 proteinopathies but are only rarely additionally immunopositive for phosphorylation-dependent TDP-43

(2010) Andrew King et al.   NEUROPATHOLOGY

Loss of ALS2/Alsin Exacerbates Motor Dysfunction in a SOD1H46R-Expressing Mouse ALS Model by Disturbing Endolysosomal Trafficking

(2010) Shinji Hadano et al.   PLoS One

Non-ATG-initiated translation directed by microsatellite expansions

(2010) T. Zu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Neuropathologic Features of Frontotemporal Lobar Degeneration With Ubiquitin-Positive Inclusions Visualized With Ubiquitin-Binding Protein p62 Immunohistochemistry

(2009) Maria Pikkarainen et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Influence of Friedreich Ataxia GAA Noncoding Repeat Expansions on Pre-mRNA Processing

(2008) Marco Baralle et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Frontotemporal lobar degeneration with ubiquitinated tau-negative inclusions and additional α-synuclein pathology but also unusual cerebellar ubiquitinated p62-positive, TDP-43-negative inclusions

(2008) Andrew King et al.   NEUROPATHOLOGY