Suzee E. Lee
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View article: C9orf72 gene networks in the human brain correlate with cortical thickness in C9-FTD and implicate vulnerable cell types
C9orf72 gene networks in the human brain correlate with cortical thickness in C9-FTD and implicate vulnerable cell types Open
Introduction A hexanucleotide repeat expansion (HRE) intronic to chromosome 9 open reading frame 72 ( C9orf72 ) is recognized as the most common genetic cause of amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), and ALS-F…
View article: Novel avenues of tau research
Novel avenues of tau research Open
INTRODUCTION The pace of innovation has accelerated in virtually every area of tau research in just the past few years. METHODS In February 2022, leading international tau experts convened to share selected highlights of this work during T…
View article: Radiogenomics of<i>C9orf72</i>Expansion Carriers Reveals Global Transposable Element Derepression and Enables Prediction of Thalamic Atrophy and Clinical Impairment
Radiogenomics of<i>C9orf72</i>Expansion Carriers Reveals Global Transposable Element Derepression and Enables Prediction of Thalamic Atrophy and Clinical Impairment Open
Hexanucleotide repeat expansion (HRE) within C9orf72 is the most common genetic cause of frontotemporal dementia (FTD). Thalamic atrophy occurs in both sporadic and familial FTD but is thought to distinctly affect HRE carriers. Separately,…
View article: Single-cell RNA-seq reveals alterations in peripheral<i>CX3CR1</i>and nonclassical monocytes in familial tauopathy
Single-cell RNA-seq reveals alterations in peripheral<i>CX3CR1</i>and nonclassical monocytes in familial tauopathy Open
Background Emerging evidence from mouse models is beginning to elucidate the brain’s immune response to tau pathology, but little is known about the nature of this response in humans. In addition, it remains unclear to what extent tau path…
View article: Radiogenomics of <i>C9orf72</i> expansion carriers reveals global transposable element de-repression and enables prediction of thalamic atrophy and clinical impairment
Radiogenomics of <i>C9orf72</i> expansion carriers reveals global transposable element de-repression and enables prediction of thalamic atrophy and clinical impairment Open
Hexanucleotide repeat expansion (HRE) within C9orf72 is the most common genetic cause of frontotemporal dementia (FTD). Thalamic atrophy occurs in both sporadic and familial FTD but is thought to distinctly affect HRE carriers. Separately,…
View article: A novel temporal‐predominant neuro‐astroglial tauopathy associated with <i>TMEM106B</i> gene polymorphism in FTLD/ALS‐TDP
A novel temporal‐predominant neuro‐astroglial tauopathy associated with <i>TMEM106B</i> gene polymorphism in FTLD/ALS‐TDP Open
Polymorphisms in TMEM106B , a gene on chromosome 7p21.3 involved in lysosomal trafficking, correlates to worse neuropathological, and clinical outcomes in frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS) wit…
View article: Brain volumetric deficits in <i>MAPT</i> mutation carriers: a multisite study
Brain volumetric deficits in <i>MAPT</i> mutation carriers: a multisite study Open
Objective MAPT mutations typically cause behavioral variant frontotemporal dementia with or without parkinsonism. Previous studies have shown that symptomatic MAPT mutation carriers have frontotemporal atrophy, yet studies have shown mixed…
View article: Rates of Brain Atrophy Across Disease Stages in Familial Frontotemporal Dementia Associated With <i>MAPT</i>, <i>GRN</i>, and <i>C9orf72</i> Pathogenic Variants
Rates of Brain Atrophy Across Disease Stages in Familial Frontotemporal Dementia Associated With <i>MAPT</i>, <i>GRN</i>, and <i>C9orf72</i> Pathogenic Variants Open
These findings are relevant to clinical trial planning and suggest that the mechanism by which C9orf72 pathogenic variants lead to symptoms may be fundamentally different from the mechanisms associated with other pathogenic variants.
View article: Lack of Association Between the CCR5-delta32 Polymorphism and Neurodegenerative Disorders
Lack of Association Between the CCR5-delta32 Polymorphism and Neurodegenerative Disorders Open
Objective: Recent studies have suggested that diminished Ccr5 functioning has an effect on synaptic plasticity and hippocampal memory in mouse models. CCR5 -delta32, a 32-bp frameshift deletion in human CCR5 encoding a nonfunctional recept…
View article: A Comprehensive Resource for Induced Pluripotent Stem Cells from Patients with Primary Tauopathies
A Comprehensive Resource for Induced Pluripotent Stem Cells from Patients with Primary Tauopathies Open
Primary tauopathies are characterized neuropathologically by inclusions containing abnormal forms of the microtubule-associated protein tau (MAPT) and clinically by diverse neuropsychiatric, cognitive, and motor impairments. Autosomal domi…
View article: Thalamo-cortical network hyperconnectivity in preclinical progranulin mutation carriers
Thalamo-cortical network hyperconnectivity in preclinical progranulin mutation carriers Open
Mutations in progranulin (GRN) cause heterogeneous clinical syndromes, including behavioral variant frontotemporal dementia (bvFTD), primary progressive aphasia (PPA), corticobasal syndrome (CBS) and Alzheimer-type dementia (AD-type dement…
View article: Frequency of frontotemporal dementia gene variants in <em>C9ORF72</em>, <em>MAPT</em>, and <em>GRN</em> in academic versus commercial laboratory cohorts
Frequency of frontotemporal dementia gene variants in <em>C9ORF72</em>, <em>MAPT</em>, and <em>GRN</em> in academic versus commercial laboratory cohorts Open
Differences in gene frequencies and identification of unique pathogenic alleles in each cohort demonstrate the importance of data sharing between academia and community laboratories. Using shared data sources with well-characterized clinic…
View article: Poly(GP), neurofilament and grey matter deficits in <i>C9orf72</i> expansion carriers
Poly(GP), neurofilament and grey matter deficits in <i>C9orf72</i> expansion carriers Open
Objective To evaluate poly( GP ), a dipeptide repeat protein, and neurofilament light chain (NfL) as biomarkers in presymptomatic C9orf72 repeat expansion carriers and patients with C9orf72‐ associated frontotemporal dementia. Additionally…
View article: Clinicopathological correlations in behavioural variant frontotemporal dementia
Clinicopathological correlations in behavioural variant frontotemporal dementia Open
Accurately predicting the underlying neuropathological diagnosis in patients with behavioural variant frontotemporal dementia (bvFTD) poses a daunting challenge for clinicians but will be critical for the success of disease-modifying thera…
View article: The unexpected co-occurrence of GRN and MAPT p.A152T in Basque families: Clinical and pathological characteristics
The unexpected co-occurrence of GRN and MAPT p.A152T in Basque families: Clinical and pathological characteristics Open
In our sample, the p.A152T MAPT variant does not appear to show a discernible influence on the clinical phenotype of GRN carriers. Whether p.A152T confers a greater than expected propensity for tau pathology in these GRN carriers remains a…
View article: Microglial NFκB-TNFα hyperactivation induces obsessive–compulsive behavior in mouse models of progranulin-deficient frontotemporal dementia
Microglial NFκB-TNFα hyperactivation induces obsessive–compulsive behavior in mouse models of progranulin-deficient frontotemporal dementia Open
Significance Frontotemporal dementia (FTD) is a disease characterized by degeneration of the frontal and/or temporal lobes of the brain. Symptoms of FTD include changes in personality, such as loss of social awareness and impulse control. …
A152T tau allele causes neurodegeneration that can be ameliorated in a zebrafish model by autophagy induction Open
Mutations in the gene encoding tau (MAPT) cause frontotemporal dementia spectrum disorders. A rare tau variant p.A152T was reported as a risk factor for frontotemporal dementia spectrum and Alzheimer’s disease in an initial case-control st…
View article: Advancing functional dysconnectivity and atrophy in progressive supranuclear palsy
Advancing functional dysconnectivity and atrophy in progressive supranuclear palsy Open
Progressive supranuclear palsy syndrome (PSP-S) results from neurodegeneration within a network of brainstem, subcortical, frontal and parietal cortical brain regions. It is unclear how network dysfunction progresses and relates to longitu…
View article: Cognition and neuropsychiatry in behavioral variant frontotemporal dementia by disease stage
Cognition and neuropsychiatry in behavioral variant frontotemporal dementia by disease stage Open
There are distinct patterns of cognitive deficits differentiating the earlier and later disease stages in bvFTD, with the pattern of cognitive decline revealing in greater detail the natural history of the disease. These cognitive symptoms…
View article: MAPT H1 Haplotype is Associated with Late-Onset Alzheimer’s Disease Risk in APOE ɛ4 Noncarriers: Results from the Dementia Genetics Spanish Consortium
MAPT H1 Haplotype is Associated with Late-Onset Alzheimer’s Disease Risk in APOE ɛ4 Noncarriers: Results from the Dementia Genetics Spanish Consortium Open
The MAPT H1 haplotype has been linked to several disorders, but its relationship with Alzheimer’s disease (AD) remains controversial. A rare variant in MAPT (p.A152T) has been linked with frontotemporal dementia (FTD) and AD. We genotyped …
View article: Young‐onset frontotemporal dementia in a homozygous tau R406W mutation carrier
Young‐onset frontotemporal dementia in a homozygous tau R406W mutation carrier Open
Microtubule‐associated protein tau mutations result in 10–20% of cases of genetic frontotemporal lobar degeneration. Tau mutation carriers typically develop behavioral variant frontotemporal dementia with or without parkinsonism. Unlike mo…
View article: Early-onset Alzheimer’s disease versus frontotemporal dementia: resolution with genetic diagnoses?
Early-onset Alzheimer’s disease versus frontotemporal dementia: resolution with genetic diagnoses? Open
We report a diagnostically challenging case of a 64-year-old man with a history of remote head trauma who developed mild behavioral changes and dyscalculia. He was diagnosed with clinical Alzheimer's disease (AD), with additional features …
View article: Amyloid in dementia associated with familial FTLD: not an innocent bystander
Amyloid in dementia associated with familial FTLD: not an innocent bystander Open
Patients with frontotemporal lobar degeneration (FTLD) can show superimposed amyloid pathology, though the impact of amyloid on the clinical presentation of FTLD is not well characterized. This cross-sectional case-control study compared c…
View article: Predicting amyloid status in corticobasal syndrome using modified clinical criteria, magnetic resonance imaging and fluorodeoxyglucose positron emission tomography
Predicting amyloid status in corticobasal syndrome using modified clinical criteria, magnetic resonance imaging and fluorodeoxyglucose positron emission tomography Open
Introduction Group comparisons demonstrate greater visuospatial and memory deficits and temporoparietal-predominant degeneration on neuroimaging in patients with corticobasal syndrome (CBS) found to have Alzheimer’s disease (AD) pathology …