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

PubWeight™: 3.66‹?› | Rank: Top 1%

🔗 View Article (PMC 3017222)

Published in J Neurol Neurosurg Psychiatry on June 20, 2010

Authors

Adam L Boxer1, Ian R Mackenzie, Bradley F Boeve, Matthew Baker, William W Seeley, Richard Crook, Howard Feldman, Ging-Yuek R Hsiung, Nicola Rutherford, Victor Laluz, Jennifer Whitwell, Dean Foti, Eric McDade, Jennifer Molano, Anna Karydas, Aleksandra Wojtas, Jill Goldman, Jacob Mirsky, Pheth Sengdy, Stephen Dearmond, Bruce L Miller, Rosa Rademakers

Author Affiliations

1: UCSF Memory and Aging Center, University of California-San Francisco, CA 94143, USA. aboxer@memory.ucsf.edu

Articles citing this

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron (2011) 20.15

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron (2011) 18.73

Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study. Lancet Neurol (2010) 4.19

Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study. Lancet Neurol (2010) 3.61

Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations. Brain (2012) 3.43

Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72. Acta Neuropathol (2011) 3.34

Chromosome 9 ALS and FTD locus is probably derived from a single founder. Neurobiol Aging (2011) 3.27

Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics. Brain (2012) 3.08

Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p. J Neurol (2010) 2.75

Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features. Brain (2012) 2.65

Clinical genetics of amyotrophic lateral sclerosis: what do we really know? Nat Rev Neurol (2011) 2.55

Advances in understanding the molecular basis of frontotemporal dementia. Nat Rev Neurol (2012) 2.48

Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72. Brain (2012) 2.43

Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons. Acta Neuropathol (2013) 2.26

Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion. Acta Neuropathol (2012) 2.01

Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS. Acta Neuropathol (2013) 1.95

Stages of pTDP-43 pathology in amyotrophic lateral sclerosis. Ann Neurol (2013) 1.89

Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p. Brain (2012) 1.81

How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders? Curr Opin Neurol (2012) 1.81

The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder. Eur J Hum Genet (2012) 1.71

Frontotemporal dementia due to C9ORF72 mutations: clinical and imaging features. Neurology (2012) 1.69

Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72. Brain (2012) 1.67

The molecular basis of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum. Ann Med (2012) 1.66

Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9p. Acta Neuropathol (2012) 1.54

A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats. Hum Mutat (2013) 1.53

C9orf72 promoter hypermethylation is neuroprotective: Neuroimaging and neuropathologic evidence. Neurology (2015) 1.52

Dementia and cognitive impairment in amyotrophic lateral sclerosis: a review. Neurol Sci (2010) 1.44

The genetics and neuropathology of frontotemporal lobar degeneration. Acta Neuropathol (2012) 1.42

Atypical, slowly progressive behavioural variant frontotemporal dementia associated with C9ORF72 hexanucleotide expansion. J Neurol Neurosurg Psychiatry (2012) 1.34

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. Acta Neuropathol Commun (2013) 1.32

Investigation of c9orf72 in 4 neurodegenerative disorders. Arch Neurol (2012) 1.32

Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype. Neurobiol Aging (2012) 1.30

Cerebrospinal fluid neurofilament concentration reflects disease severity in frontotemporal degeneration. Ann Neurol (2014) 1.15

Grey and white matter changes across the amyotrophic lateral sclerosis-frontotemporal dementia continuum. PLoS One (2012) 1.15

Frontotemporal dementia in a Brazilian kindred with the c9orf72 mutation. Arch Neurol (2012) 1.10

Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72. Acta Neuropathol Commun (2014) 1.09

Longitudinal neuroimaging and neuropsychological profiles of frontotemporal dementia with C9ORF72 expansions. Alzheimers Res Ther (2012) 1.09

TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions. Acta Neuropathol (2014) 1.08

RNA-mediated toxicity in neurodegenerative disease. Mol Cell Neurosci (2012) 1.07

Frontotemporal lobar degeneration with TDP-43 proteinopathy and chromosome 9p repeat expansion in C9ORF72: clinicopathologic correlation. Neuropathology (2012) 1.06

Screening for C9ORF72 repeat expansion in FTLD. Neurobiol Aging (2012) 1.05

Clinical aspects of familial forms of frontotemporal dementia associated with parkinsonism. J Mol Neurosci (2011) 0.97

Cognitive and behavioral features of c9FTD/ALS. Alzheimers Res Ther (2012) 0.96

A comprehensive review of amyotrophic lateral sclerosis. Surg Neurol Int (2015) 0.93

Frontotemporal dementia: a bridge between dementia and neuromuscular disease. Ann N Y Acad Sci (2014) 0.93

An algorithm for genetic testing of frontotemporal lobar degeneration. Neurology (2011) 0.93

Neuropsychiatric features of C9orf72-associated behavioral variant frontotemporal dementia and frontotemporal dementia with motor neuron disease. Alzheimers Res Ther (2012) 0.90

Accumulation of dipeptide repeat proteins predates that of TDP-43 in frontotemporal lobar degeneration associated with hexanucleotide repeat expansions in C9ORF72 gene. Neuropathol Appl Neurobiol (2015) 0.90

The metabolic signature of C9ORF72-related ALS: FDG PET comparison with nonmutated patients. Eur J Nucl Med Mol Imaging (2014) 0.90

Characterization of a family with c9FTD/ALS associated with the GGGGCC repeat expansion in C9ORF72. Arch Neurol (2012) 0.89

TMEM106B a novel risk factor for frontotemporal lobar degeneration. J Mol Neurosci (2011) 0.89

Altered network connectivity in frontotemporal dementia with C9orf72 hexanucleotide repeat expansion. Brain (2014) 0.89

The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis. Neurotherapeutics (2015) 0.89

Expanding the genetics of amyotrophic lateral sclerosis and frontotemporal dementia. Alzheimers Res Ther (2012) 0.87

Phenotypic Heterogeneity of Monogenic Frontotemporal Dementia. Front Aging Neurosci (2015) 0.87

Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis. Hum Mol Genet (2012) 0.86

Genetic counseling for FTD/ALS caused by the C9ORF72 hexanucleotide expansion. Alzheimers Res Ther (2012) 0.86

Treatment implications of C9ORF72. Alzheimers Res Ther (2012) 0.85

Frontotemporal dementia with psychosis, parkinsonism, visuo-spatial dysfunction, upper motor neuron involvement associated to expansion of C9ORF72: a peculiar phenotype? J Neurol (2012) 0.84

Gene discovery in amyotrophic lateral sclerosis: implications for clinical management. Nat Rev Neurol (2016) 0.83

RAN translation-What makes it run? Brain Res (2016) 0.81

Neuroimaging features of C9ORF72 expansion. Alzheimers Res Ther (2012) 0.81

A novel approach for integrative studies on neurodegenerative diseases in human brains. J Neurosci Methods (2014) 0.81

Neuropathology of Amyotrophic Lateral Sclerosis and Its Variants. Neurol Clin (2015) 0.80

Pathological assessments for the presence of hexanucleotide repeat expansions in C9ORF72 in Alzheimer's disease. Acta Neuropathol Commun (2013) 0.80

Genetic analysis of SIGMAR1 as a cause of familial ALS with dementia. Eur J Hum Genet (2012) 0.80

Treatment of frontotemporal dementia. Curr Treat Options Neurol (2014) 0.79

Frontotemporal dementia with a C9ORF72 expansion in a Swedish family: clinical and neuropathological characteristics. Am J Neurodegener Dis (2013) 0.79

TDP-43/FUS in motor neuron disease: Complexity and challenges. Prog Neurobiol (2016) 0.79

Recent advances in the imaging of frontotemporal dementia. Curr Neurol Neurosci Rep (2012) 0.78

C9ORF72, the new gene on the block, causes C9FTD/ALS: new insights provided by neuropathology. Acta Neuropathol (2011) 0.78

Characterization of Movement Disorder Phenomenology in Genetically Proven, Familial Frontotemporal Lobar Degeneration: A Systematic Review and Meta-Analysis. PLoS One (2016) 0.78

TDP-43 variants of frontotemporal lobar degeneration. J Mol Neurosci (2011) 0.77

Amyotrophic Lateral Sclerosis and Metabolomics: Clinical Implication and Therapeutic Approach. J Biomark (2013) 0.76

The role of RNA metabolism in neurological diseases. Balkan J Med Genet (2016) 0.75

Therapy and clinical trials in frontotemporal dementia: past, present, and future. J Neurochem (2016) 0.75

Insular atrophy and diminished disgust reactivity. Emotion (2016) 0.75

Articles cited by this

The Clinical Dementia Rating (CDR): current version and scoring rules. Neurology (1993) 47.72

Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria. Neurology (1998) 26.77

Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature (2006) 11.59

11C PiB and structural MRI provide complementary information in imaging of Alzheimer's disease and amnestic mild cognitive impairment. Brain (2008) 9.64

El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis. Subcommittee on Motor Neuron Diseases/Amyotrophic Lateral Sclerosis of the World Federation of Neurology Research Group on Neuromuscular Diseases and the El Escorial "Clinical limits of amyotrophic lateral sclerosis" workshop contributors. J Neurol Sci (1994) 9.19

Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3. Brain (2006) 5.36

A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia. Neurology (2006) 5.29

Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration. Hum Mol Genet (2006) 4.80

Nomenclature for neuropathologic subtypes of frontotemporal lobar degeneration: consensus recommendations. Acta Neuropathol (2008) 4.73

Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat Genet (2009) 4.38

Pathological heterogeneity of frontotemporal lobar degeneration with ubiquitin-positive inclusions delineated by ubiquitin immunohistochemistry and novel monoclonal antibodies. Am J Pathol (2006) 4.32

The overlap of amyotrophic lateral sclerosis and frontotemporal dementia. Neurology (2002) 3.91

Corticobasal degeneration and its relationship to progressive supranuclear palsy and frontotemporal dementia. Ann Neurol (2003) 3.22

Three families with amyotrophic lateral sclerosis and frontotemporal dementia with evidence of linkage to chromosome 9p. Arch Neurol (2007) 2.89

The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin gene. Brain (2006) 2.52

Survival in frontotemporal dementia. Neurology (2003) 2.48

Chromosome 9p-linked families with frontotemporal dementia associated with motor neuron disease. Neurology (2009) 2.46

Pedigree with frontotemporal lobar degeneration--motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9. BMC Neurol (2008) 2.34

Patterns of brain atrophy that differentiate corticobasal degeneration syndrome from progressive supranuclear palsy. Arch Neurol (2006) 2.27

Atypical frontotemporal lobar degeneration with ubiquitin-positive, TDP-43-negative neuronal inclusions. Brain (2008) 2.17

Frontotemporal dementia progresses to death faster than Alzheimer disease. Neurology (2005) 2.10

VCP disease associated with myopathy, Paget disease of bone and frontotemporal dementia: review of a unique disorder. Biochim Biophys Acta (2008) 2.06

Patterns of atrophy in pathologically confirmed FTLD with and without motor neuron degeneration. Neurology (2006) 2.01

A voxel-based morphometry study of patterns of brain atrophy in ALS and ALS/FTLD. Neurology (2005) 1.93

Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: comparison with patients with MAPT and no known mutations. Brain (2008) 1.79

Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD. BMC Neurol (2006) 1.60

Comparison of family histories in FTLD subtypes and related tauopathies. Neurology (2005) 1.39

Brain atrophy in primary lateral sclerosis. Neurology (2009) 1.01

Articles by these authors

Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science (2006) 27.96

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron (2011) 20.15

Clinical and biomarker changes in dominantly inherited Alzheimer's disease. N Engl J Med (2012) 14.14

Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature (2006) 11.59

TREM2 variants in Alzheimer's disease. N Engl J Med (2012) 11.35

Mild cognitive impairment. Lancet (2006) 10.21

Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nat Genet (2011) 10.07

Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia. Brain (2011) 9.90

Neurodegenerative diseases target large-scale human brain networks. Neuron (2009) 9.69

11C PiB and structural MRI provide complementary information in imaging of Alzheimer's disease and amnestic mild cognitive impairment. Brain (2008) 9.64

Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. Nature (2006) 9.31

Genomic sequence of the pathogenic and allergenic filamentous fungus Aspergillus fumigatus. Nature (2005) 8.55

novoSNP, a novel computational tool for sequence variation discovery. Genome Res (2005) 7.42

Serial PIB and MRI in normal, mild cognitive impairment and Alzheimer's disease: implications for sequence of pathological events in Alzheimer's disease. Brain (2009) 7.20

Cognition and anatomy in three variants of primary progressive aphasia. Ann Neurol (2004) 7.07

Classification and prediction of clinical Alzheimer's diagnosis based on plasma signaling proteins. Nat Med (2007) 6.80

Neuropathologic features of amnestic mild cognitive impairment. Arch Neurol (2006) 6.20

The Mayo Clinic Study of Aging: design and sampling, participation, baseline measures and sample characteristics. Neuroepidemiology (2008) 5.94

Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS. Neuron (2013) 5.91

TDP-43 A315T mutation in familial motor neuron disease. Ann Neurol (2008) 5.58

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nat Genet (2010) 5.52

Frontotemporal dementia: clinicopathological correlations. Ann Neurol (2006) 5.14

Mild cognitive impairment: ten years later. Arch Neurol (2009) 5.02

Processes to activate phase III clinical trials in a Cooperative Oncology Group: the Case of Cancer and Leukemia Group B. J Clin Oncol (2006) 4.91

Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration. Hum Mol Genet (2006) 4.80

Neuropathologic outcome of mild cognitive impairment following progression to clinical dementia. Arch Neurol (2006) 4.56

Longitudinal modeling of age-related memory decline and the APOE epsilon4 effect. N Engl J Med (2009) 4.45

Alzheimer's disease diagnosis in individual subjects using structural MR images: validation studies. Neuroimage (2007) 4.41

A new subtype of frontotemporal lobar degeneration with FUS pathology. Brain (2009) 4.40

An operational approach to National Institute on Aging-Alzheimer's Association criteria for preclinical Alzheimer disease. Ann Neurol (2012) 4.36

Abeta amyloid and glucose metabolism in three variants of primary progressive aphasia. Ann Neurol (2008) 4.15

Clinicopathological and imaging correlates of progressive aphasia and apraxia of speech. Brain (2006) 4.07

Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. Nature (2013) 4.03

TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia. Lancet Neurol (2010) 3.92

Divergent network connectivity changes in behavioural variant frontotemporal dementia and Alzheimer's disease. Brain (2010) 3.84

Correlation of Alzheimer disease neuropathologic changes with cognitive status: a review of the literature. J Neuropathol Exp Neurol (2012) 3.77

Primary age-related tauopathy (PART): a common pathology associated with human aging. Acta Neuropathol (2014) 3.75

Restless legs syndrome and daytime sleepiness are prominent in myotonic dystrophy type 2. Neurology (2013) 3.70

Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis. PLoS Genet (2008) 3.66

Distinctive neuropsychological patterns in frontotemporal dementia, semantic dementia, and Alzheimer disease. Cogn Behav Neurol (2003) 3.66

3D maps from multiple MRI illustrate changing atrophy patterns as subjects progress from mild cognitive impairment to Alzheimer's disease. Brain (2007) 3.53

Sortilin-mediated endocytosis determines levels of the frontotemporal dementia protein, progranulin. Neuron (2010) 3.44

Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72. Acta Neuropathol (2011) 3.34

Whole-genome analysis of sporadic amyotrophic lateral sclerosis. N Engl J Med (2007) 3.33

Chromosome 9 ALS and FTD locus is probably derived from a single founder. Neurobiol Aging (2011) 3.27

Association of low plasma Abeta42/Abeta40 ratios with increased imminent risk for mild cognitive impairment and Alzheimer disease. Arch Neurol (2007) 3.25

Challenging the clinical utility of the 14-3-3 protein for the diagnosis of sporadic Creutzfeldt-Jakob disease. Arch Neurol (2003) 3.20

Acetylation of tau inhibits its degradation and contributes to tauopathy. Neuron (2010) 3.15

Pattern of cerebral hypoperfusion in Alzheimer disease and mild cognitive impairment measured with arterial spin-labeling MR imaging: initial experience. Radiology (2005) 3.14

Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families. PLoS One (2012) 3.11

Diffusion-weighted and fluid-attenuated inversion recovery imaging in Creutzfeldt-Jakob disease: high sensitivity and specificity for diagnosis. AJNR Am J Neuroradiol (2005) 3.11

Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics. Brain (2012) 3.08

Predicting regional neurodegeneration from the healthy brain functional connectome. Neuron (2012) 3.07

Criteria for the diagnosis of corticobasal degeneration. Neurology (2013) 3.07

The long-term effects of conventional and atypical antipsychotics in patients with probable Alzheimer's disease. Am J Psychiatry (2013) 3.06

Frontal paralimbic network atrophy in very mild behavioral variant frontotemporal dementia. Arch Neurol (2008) 3.03

Rapidly progressive dementia. Ann Neurol (2008) 3.00

TDP-43 in the ubiquitin pathology of frontotemporal dementia with VCP gene mutations. J Neuropathol Exp Neurol (2007) 2.97

Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. Nat Genet (2011) 2.97

Concomitant TAR-DNA-binding protein 43 pathology is present in Alzheimer disease and corticobasal degeneration but not in other tauopathies. J Neuropathol Exp Neurol (2008) 2.96

Neuroanatomical correlates of behavioural disorders in dementia. Brain (2005) 2.92

Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. Nat Genet (2011) 2.76

Unravelling Boléro: progressive aphasia, transmodal creativity and the right posterior neocortex. Brain (2007) 2.75

Higher risk of progression to dementia in mild cognitive impairment cases who revert to normal. Neurology (2013) 2.73