An update on genetic frontotemporal dementia

Neurofilaments and tau in CSF in an infant with SMA type 1 treated with nusinersen

(2019) Benedikt Winter et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

A walk through tau therapeutic strategies

(2019) Santosh Jadhav et al.   Acta Neuropathologica Communications

FDG-PET underscores the key role of the thalamus in frontotemporal lobar degeneration caused by C9ORF72 mutations

(2019) Janine Diehl-Schmid et al.   Translational Psychiatry

Hippocampal Subfield Volumetry: Differential Pattern of Atrophy in Different Forms of Genetic Frontotemporal Dementia

(2018) Martina Bocchetta et al.   JOURNAL OF ALZHEIMERS DISEASE

Primary progressive aphasia: a clinical approach

(2018) Charles R. Marshall et al.   JOURNAL OF NEUROLOGY

Longitudinal cognitive biomarkers predicting symptom onset in presymptomatic frontotemporal dementia

(2018) Lize C. Jiskoot et al.   JOURNAL OF NEUROLOGY

Psychiatric symptoms in preclinical behavioural-variant frontotemporal dementia inMAPTmutation carriers

(2018) Gayathri Cheran et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Progranulin Gene Therapy Improves Lysosomal Dysfunction and Microglial Pathology Associated with Frontotemporal Dementia and Neuronal Ceroid Lipofuscinosis

(2018) Andrew E. Arrant et al.   JOURNAL OF NEUROSCIENCE

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study

(2018) Cyril Pottier et al.   LANCET NEUROLOGY

Patterns of gray matter atrophy in genetic frontotemporal dementia: results from the GENFI study

(2018) David M. Cash et al.   NEUROBIOLOGY OF AGING

Progranulin plasma levels predict the presence of GRN mutations in asymptomatic subjects and do not correlate with brain atrophy: results from the GENFI study

(2018) Daniela Galimberti et al.   NEUROBIOLOGY OF AGING

ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function

(2018) Martina de Majo et al.   NEUROBIOLOGY OF AGING

In vivo18F-AV-1451 tau PET signal inMAPTmutation carriers varies by expected tau isoforms

(2018) David T. Jones et al.   NEUROLOGY

Early Cognitive, Structural, and Microstructural Changes in Presymptomatic C9orf72 Carriers Younger Than 40 Years

(2018) Anne Bertrand et al.   JAMA Neurology

Poly(GP), neurofilament and grey matter deficits in C9orf72 expansion carriers

(2018) Lieke H.H. Meeter et al.   Annals of Clinical and Translational Neurology

Presymptomatic white matter integrity loss in familial frontotemporal dementia in the GENFI cohort: A cross-sectional diffusion tensor imaging study

(2018) Lize C. Jiskoot et al.   Annals of Clinical and Translational Neurology

A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers

(2018) Ming Zhang et al.   BRAIN

Different neuroinflammatory profile in amyotrophic lateral sclerosis and frontotemporal dementia is linked to the clinical phase

(2018) Patrick Oeckl et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriers

(2018) Clémence Fournier et al.   NEUROBIOLOGY OF AGING

Pathological correlates of white matter hyperintensities in a case of progranulin mutation associated frontotemporal dementia

(2018) Ione O.C. Woollacott et al.   NEUROCASE

Cerebrospinal fluid soluble TREM2 levels in frontotemporal dementia differ by genetic and pathological subgroup

(2018) Ione O. C. Woollacott et al.   Alzheimers Research & Therapy

[18 F]AV-1451 binding is increased in frontotemporal dementia due to C9orf72 expansion

(2018) Richard W. Bevan-Jones et al.   Annals of Clinical and Translational Neurology

Longitudinal multimodal MRI as prognostic and diagnostic biomarker in presymptomatic familial frontotemporal dementia

(2018) Lize C Jiskoot et al.   BRAIN

Neurite density is reduced in the presymptomatic phase of C9orf72 disease

(2018) Junhao Wen et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Cognitive Indicators of Preclinical Behavioral Variant Frontotemporal Dementia in MAPT Carriers

(2018) Gayathri Cheran et al.   JOURNAL OF THE INTERNATIONAL NEUROPSYCHOLOGICAL SOCIETY

Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series

(2018) C. Koriath et al.   MOLECULAR PSYCHIATRY

AAV-Mediated Progranulin Delivery to a Mouse Model of Progranulin Deficiency Causes T Cell-Mediated Toxicity

(2018) Defne A. Amado et al.   MOLECULAR THERAPY

Uncovering the heterogeneity and temporal complexity of neurodegenerative diseases with Subtype and Stage Inference

(2018) Alexandra L Young et al.   Nature Communications

Intermediate C9orf72 alleles in neurological disorders: does size really matter?

(2017) Adeline S L Ng et al.   JOURNAL OF MEDICAL GENETICS

Genetic screening in sporadic ALS and FTD

(2017) Martin R Turner et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Psychiatric Presentations of C9orf72 Mutation: What Are the Diagnostic Implications for Clinicians?

(2017) Simon Ducharme et al.   JOURNAL OF NEUROPSYCHIATRY AND CLINICAL NEUROSCIENCES

Clinical diagnosis of progressive supranuclear palsy: The movement disorder society criteria

(2017) Günter U. Höglinger et al.   MOVEMENT DISORDERS

Imaging and fluid biomarkers in frontotemporal dementia

(2017) Lieke H. Meeter et al.   Nature Reviews Neurology

Frontotemporal dementia with the V337M MAPT mutation

(2017) Salvatore Spina et al.   NEUROLOGY

Tau reduction prevents neuronal loss and reverses pathological tau deposition and seeding in mice with tauopathy

(2017) Sarah L. DeVos et al.   Science Translational Medicine

Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72 -associated amyotrophic lateral sclerosis

(2017) Tania F. Gendron et al.   Science Translational Medicine

Age-related penetrance of the C9orf72 repeat expansion

(2017) Natalie A. Murphy et al.   Scientific Reports

Predictive genetic testing for amyotrophic lateral sclerosis and frontotemporal dementia: genetic counselling considerations

(2017) Ashley Crook et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Amyotrophic lateral sclerosis - frontotemporal spectrum disorder (ALS-FTSD): Revised diagnostic criteria

(2017) Michael J. Strong et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Network degeneration and dysfunction in presymptomatic C9ORF72 expansion carriers

(2017) Suzee E. Lee et al.   NeuroImage-Clinical

White matter hyperintensities are seen only in GRN mutation carriers in the GENFI cohort

(2017) Carole H. Sudre et al.   NeuroImage-Clinical

What we know about TMEM106B in neurodegeneration

(2016) Alexandra M. Nicholson et al.   ACTA NEUROPATHOLOGICA

18F-AV-1451 tau PET imaging correlates strongly with tau neuropathology inMAPTmutation carriers

(2016) Ruben Smith et al.   BRAIN

Looking for Measures of Disease Severity in the Frontotemporal Dementia Continuum

(2016) Enrico Premi et al.   JOURNAL OF ALZHEIMERS DISEASE

Serum neurofilament light chain protein is a measure of disease intensity in frontotemporal dementia

(2016) Jonathan D. Rohrer et al.   NEUROLOGY

Prevalence, characteristics, and survival of frontotemporal lobar degeneration syndromes

(2016) Ian T.S. Coyle-Gilchrist et al.   NEUROLOGY

Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs

(2016) Jie Jiang et al.   NEURON

Neurofilament light chain: a biomarker for genetic frontotemporal dementia

(2016) Lieke H. Meeter et al.   Annals of Clinical and Translational Neurology

Presymptomatic cognitive and neuroanatomical changes in genetic frontotemporal dementia in the Genetic Frontotemporal dementia Initiative (GENFI) study: a cross-sectional analysis

(2015) Jonathan D Rohrer et al.   LANCET NEUROLOGY

Pattern of structural and functional brain abnormalities in asymptomatic granulin mutation carriers

(2014) Michela Pievani et al.   Alzheimers & Dementia

The metabolic signature of C9ORF72-related ALS: FDG PET comparison with nonmutated patients

(2014) Angelina Cistaro et al.   EUROPEAN JOURNAL OF NUCLEAR MEDICINE AND MOLECULAR IMAGING

Heritability in frontotemporal dementia: more missing pieces?

(2014) Kieren Po et al.   JOURNAL OF NEUROLOGY

Clinical phenotypes and radiological findings in frontotemporal dementia related to TARDBP mutations

(2014) Gianluca Floris et al.   JOURNAL OF NEUROLOGY

Structural and functional brain connectivity in presymptomatic familial frontotemporal dementia

(2014) E. G. P. Dopper et al.   NEUROLOGY

Multimodal fMRI Resting-State Functional Connectivity in Granulin Mutations: The Case of Fronto-Parietal Dementia

(2014) Enrico Premi et al.   PLoS One

Extensive White Matter Involvement in Patients With Frontotemporal Lobar Degeneration

(2014) Paola Caroppo et al.   JAMA Neurology

Targeted manipulation of the sortilin–progranulin axis rescues progranulin haploinsufficiency

(2013) Wing C. Lee et al.   HUMAN MOLECULAR GENETICS

Anterior brain glucose hypometabolism predates dementia in progranulin mutation carriers

(2013) C. Jacova et al.   NEUROLOGY

Criteria for the diagnosis of corticobasal degeneration

(2013) M. J. Armstrong et al.   NEUROLOGY

Development and Validation of Pedigree Classification Criteria for Frontotemporal Lobar Degeneration

(2013) Elisabeth M. Wood et al.   JAMA Neurology

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

(2012) J. S. Snowden et al.   BRAIN

Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features

(2012) C. J. Mahoney et al.   BRAIN

Recommendations for the predictive genetic test in Huntington's disease

(2012) R MacLeod et al.   CLINICAL GENETICS

Neuropsychological Features of Asymptomatic c.709-1G>A Progranulin Mutation Carriers

(2012) Myriam Barandiaran et al.   JOURNAL OF THE INTERNATIONAL NEUROPSYCHOLOGICAL SOCIETY

Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia

(2011) Katya Rascovsky et al.   BRAIN

Altered functional connectivity in asymptomatic MAPT subjects: A comparison to bvFTD

(2011) J. L. Whitwell et al.   NEUROLOGY

Classification of primary progressive aphasia and its variants

(2011) M. L. Gorno-Tempini et al.   NEUROLOGY

Founder effect and estimation of the age of the Progranulin Thr272fs mutation in 14 Italian pedigrees with frontotemporal lobar degeneration

(2010) Barbara Borroni et al.   NEUROBIOLOGY OF AGING

Clinical staging and disease progression in frontotemporal dementia

(2010) E. Mioshi et al.   NEUROLOGY

The heritability and genetics of frontotemporal lobar degeneration

(2009) J. D. Rohrer et al.   NEUROLOGY

Progranulin-associated primary progressive aphasia: A distinct phenotype?

(2009) Jonathan D. Rohrer et al.   NEUROPSYCHOLOGIA

A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series

(2008) J. Beck et al.   BRAIN