Janine Diehl-Schmid

• Prof. Dr.
• Consultant at Technical University of Munich

Behavioral variant frontotemporal dementia (bvFTD) is characterized by profound and early deficits in social cognition (SC) and executive functions (EF). To date it remains unclear whether deficits of the respective cognitive domains are based on the degeneration of distinct brain regions. In 103 patients with a diagnosis of bvFTD (possible/probabl...

Accurate diagnosis of frontotemporal dementia (FTD) with right anterior temporal lobe (RATL) predominance remains challenging due to lack of clinical characterization, and standardized terminology. The recent research of the International Working Group (IWG) identified common symptoms but also unveiled broad terminologies lacking precision and oper...

INTRODUCTION Although frontotemporal dementia (FTD) with right anterior temporal lobe (RATL) predominance has been recognized, a uniform description of the syndrome is still missing. This multicenter study aims to establish a cohesive clinical phenotype. METHODS Retrospective clinical data from 18 centers across 12 countries yielded 360 FTD patien...

Progressive supranuclear palsy (PSP) is an atypical Parkinsonian syndrome characterized initially by falls and eye movement impairment. This multimodal imaging study aimed at eliciting structural and functional disease-specific brain alterations. T1-weighted and resting-state functional MRI were applied in multi-centric cohorts of PSP and matched h...

INTRODUCTION Frontotemporal lobar degeneration (FTLD) encompasses behavioral variant frontotemporal dementia (bvFTD), progressive supranuclear palsy, corticobasal syndrome/degeneration, and primary progressive aphasias (PPAs). We cross‐validated fluid biomarkers and neuroimaging. METHODS Seven fluid biomarkers from cerebrospinal fluid and serum we...

Frontotemporal dementia (FTD) is the second most common cause of early-onset dementia after Alzheimer disease (AD). Efforts in the field mainly focus on familial forms of disease (fFTDs), while studies of the genetic etiology of sporadic FTD (sFTD) have been less common. In the current work, we analyzed 4,685 sFTD cases and 15,308 controls looking...

Background Aside to clinical changes, behavioral variant frontotemporal dementia (bvFTD) is characterized by progressive structural and functional alterations in frontal and temporal regions. We examined if there is a selective vulnerability of specific neurotransmitter systems in bvFTD by evaluating the link between disease-related functional alte...

Prescription prevalence of sedative drugs – mostly used for the treatment of neuropsychiatric symptoms ‐ in patients with dementia in Germany is approximately 40%. Since sedative drugs cause a variety of adverse effects and might reduce quality of life significantly, the aim must be to use sedative drugs only as much as necessary and as little as p...

Background Adult‐onset behavioral changes and altered executive functioning are frequently caused by behavioural variant of Frontotemporal dementia (bvFTD) or primary psychiatric disorders (PPD) which overlap in terms of clinical presentations but differ in terms of treatment and prognosis. The multi‐centre study DIPPA‐FTD aims to develop diagnosti...

Background Adult‐onset behavioral changes and altered executive functioning are frequently caused by behavioural variant of Frontotemporal dementia (bvFTD) or primary psychiatric disorders (PPD) which overlap in terms of clinical presentations but differ in terms of treatment and prognosis. The multi‐centre study DIPPA‐FTD aims to develop diagnosti...

Background The behavioral variant of frontotemporal dementia (bvFTD) is very heterogeneous in pathology, genetics, and disease course. Unlike Alzheimer’s disease, reliable biomarkers are lacking and sporadic bvFTD is often misdiagnosed as a primary psychiatric disorder (PPD) due to overlapping clinical features. Current efforts to characterize and...

Background and objectives: German legislation establishes advance directives (ADs) as legally binding instruments that all involved parties need to adhere to. This applies also to family members who have been authorized as official surrogates of the AD's author. As surrogates, they are expected to make sure that the AD is being implemented. Our st...

Frontotemporal dementias (FTD) are among the rare dementias. Their symptomatology is - compared to the common Alzheimer’s disease - atypical, so that in many cases it takes a long time until a correct diagnosis is made. The following article gives an overview of the clinical symptoms, genetic and neuropathological basis, diagnostics and differentia...

Background Differentiating dementia due to small vessel disease (SVD) from dementia due to Alzheimer’s disease (AD) with concomitant SVD is challenging in clinical practice. Accurate and early diagnosis of AD is critical to delivering stratified patient care. Objective We characterized the results of Elecsys® cerebrospinal fluid (CSF) immunoassays...

Purpose Previous research on motor speech disorders (MSDs) in primary progressive aphasia (PPA) has largely focused on patients with the nonfluent/agrammatic variant of PPA (nfvPPA), with few systematic descriptions of MSDs in variants other than nfvPPA. There has also been an emphasis on studying apraxia of speech, whereas less is known about dysa...

Understanding the relationships between brain structure and language behavior in primary progressive aphasia provides crucial information about these diseases’ pathomechanisms. However, previous investigations have been limited from providing a statistically reliable view of broad language abilities by sample size, variant focus, and task focus. In...

Objective: Compared to late life dementia, Young Onset Dementia (YOD) has its own distinct challenges, including a lack of specialised and age-appropriate support services. Carers of people with YOD experience higher levels of psychological and physical symptoms, and lower quality of life. This study (RHAPSODY-Plus) assessed the acceptability and...

The scholarly debate on advance directives (ADs) in the context of dementia is mainly built around ethical arguments. Empirical studies that shed light into the realities of ADs of persons living with dementia are few and far between and too little is known about the effect of national AD legislation on such realities. This paper offers insight int...

INTRODUCTION Dementia syndromes can be difficult to diagnose. We aimed at building a classifier for multiple dementia syndromes using magnetic resonance imaging (MRI). METHODS Atlas-based volumetry was performed on T1-weighted MRI data of 426 patients and 51 controls from the multi-centric German Research Consortium of Frontotemporal Lobar Degener...

Cerebrospinal fluid (CSF) lactate levels have been suggested to be associated with disease severity and progression in several neurological diseases as an indicator of impaired energy metabolism, neuronal death or microglial activation. A small number of studies have examined CSF lactate levels in dementia due to Alzheimer’s disease (AD) and found...

Previous reported sex differences on disease duration (DD) of frontotemporal dementia (FTD) have been inconsistent and lack the comparison between genetic and sporadic FTD. Our aim was to study the difference in disease duration between males and females in genetic and sporadic FTD. Mortality data was obtained from 61 deceased patients with genetic...

Behavioral variant of frontotemporal dementia (bvFTD) is common among young-onset dementia patients. While bvFTD-specific multivariate metabolic brain pattern (bFDRP) has been identified previously, little is known about its temporal evolution, internal structure, effect of atrophy, and its relationship with nonspecific resting-state networks such...

Depression (DEP) and dementia of the Alzheimer’s type (DAT) represent the most common neuropsychiatric disorders in elderly patients. Accurate differential diagnosis is indispensable to ensure appropriate treatment. However, DEP can yet mimic cognitive symptoms of DAT and patients with DAT often also present with depressive symptoms, impeding corre...

Introduction: Human herpes simplex virus 1 (HSV1) is discussed to induce amyloid-β (Aβ) accumulation and neurofibrillary tangles of hyperphosphorylated tau (pTau) in Alzheimer's disease (AD) in cell culture and animal models. Aβ appears to be virostatic. We investigated the association between intrathecal antibodies against HSV or cytomegalovirus...

Background: Recent data support beta-synuclein as a blood biomarker to study synaptic degeneration in Alzheimer's disease (AD). Methods: We provide a detailed comparison of serum beta-synuclein immunoprecipitation - mass spectrometry (IP-MS) with the established blood markers phosphorylated tau 181 (p-tau181) (Simoa) and neurofilament light (NfL...

Amyloid-beta 42 (Aβ42) and phosphorylated tau (pTau) levels in cerebrospinal fluid (CSF) reflect core features of the pathogenesis of Alzheimer’s disease (AD) more directly than clinical diagnosis. Initiated by the European Alzheimer & Dementia Biobank (EADB), the largest collaborative effort on genetics underlying CSF biomarkers was established, i...

Aside to clinical changes, behavioral variant frontotemporal dementia (bvFTD) is characterized by progressive structural and functional alterations in frontal and temporal regions. We examined if there is a selective vulnerability of specific neurotransmitter systems in bvFTD by evaluating the link between disease-related functional alterations and...

PurposeSparse inverse covariance estimation (SICE) is increasingly utilized to estimate inter-subject covariance of FDG uptake (FDGcov) as proxy of metabolic brain connectivity. However, this statistical method suffers from the lack of robustness in the connectivity estimation. Patterns of FDGcov were observed to be spatially similar with patterns...

Dodich and colleagues recently reviewed the evidence supporting clinical use of social cognition assessment in behavioral variant frontotemporal dementia (Dodich et al., 2021). Here, we comment on their methods and present an initiative to address some of the limitations that emerged from their study. In particular, we established the social cognit...

Importance: The behavioral and cognitive symptoms of severe psychotic disorders overlap with those seen in dementia. However, shared brain alterations remain disputed, and their relevance for patients in at-risk disease stages has not been explored so far. Objective: To use machine learning to compare the expression of structural magnetic resona...

Retinal vessels are similar to cerebral vessels in their structure and function. Moderately low oscillation frequencies of around 0.1 Hz have been reported as the driving force for paravascular drainage in gray matter in mice and are known as the frequencies of lymphatic vessels in humans. We aimed to elucidate whether retinal vessel oscillations a...

Background: Alzheimer's disease (AD) and frontotemporal lobar degeneration (FTLD) are heterogeneous in their clinical presentation and underlying pathology, but they often have overlapping features. Diagnostic accuracy is critical for guiding patient management. Cerebrospinal fluid (CSF) diagnostic assays for the differentiation of AD and FTLD may...

Background: Guidelines for the treatment of behavioral and psychological symptoms of dementia (BPSD) recommend that if antipsychotics are necessary, these should be used only for a limited time and with the lowest possible dose. Objective: In order to raise awareness of the risks of antipsychotic treatment in patients with dementia and the resul...

Navigated repetitive transcranial magnetic stimulation (nrTMS) is an innovative technique that provides insight into language function with high accuracy in time and space. So far, nrTMS has mainly been applied in presurgical language mapping of patients with intracranial neoplasms. For the present study, nrTMS was used for language mapping in prim...

Importance The entry of artificial intelligence into medicine is pending. Several methods have been used for the predictions of structured neuroimaging data, yet nobody compared them in this context. Objective Multi-class prediction is key for building computational aid systems for differential diagnosis. We compared support vector machine, random...

Objective: Reactive astrogliosis is a hallmark of Alzheimer's disease (AD) and frontotemporal dementia (FTD) but differences between the diseases and time course are unclear. Here, we used serum levels of the astroglial marker glial fibrillary acidic protein (GFAP) to investigate differences in patients with AD dementia, mild cognitive impairment...

Background Cerebrospinal fluid (CSF) lactate levels have been suggested to be associated with disease severity and progression in several neurological diseases as an indicator of impaired energy metabolism, neuronal death, or microglial activation. Few studies have examined CSF lactate levels in dementia due to Alzheimer’s disease (AD) and found hi...

Background Cerebrospinal fluid (CSF) analysis for detecting amyloid positivity may be as reliable as positron emission tomography (PET). We evaluated the performance of the amyloid beta (Aβ)42/40 ratio for predicting amyloid positivity by PET, compared with Aβ42 alone, and phosphorylated tau 181 (pTau181)/Aβ42 and total tau (tTau)/Aβ42 ratios, usin...

Background Polypharmacy is common in people with dementia. The use of psychotropic drugs (PDs) and other, potentially inappropriate medications is high. The aims of this cross-sectional study were 1) to investigate the use of drugs in people with advanced dementia (PWAD), living at home or in long term care (LTC); 2) to focus on PD use; and 3) to i...

Amyloid-beta 42 (Aβ42) and phosphorylated tau (pTau) levels in cerebrospinal fluid (CSF) reflect core features of the pathogenesis of Alzheimer’s disease (AD) more directly than clinical diagnosis. Initiated by the European Alzheimer & Dementia Biobank (EADB), the largest collaborative effort on genetics underlying CSF biomarkers was established, i...

Purpose Inter-subject covariance of regional 18F-fluorodeoxyglucose (FDG) PET measures (FDGcov) as proxy of brain connectivity has been gaining an increasing acceptance in the community. Yet, it is still unclear to what extent FDGcov is underlied by actual structural connectivity via white matter fiber tracts. In this study, we quantified the degre...

Clonal hematopoiesis due to somatic mutations in hematopoietic stem/progenitor cells is an age-related phenomenon and commonly observed when sequencing blood DNA in elderly individuals. Several genes that are implicated in clonal hematopoiesis are also associated with Mendelian disorders when mutated in the germline, potentially leading to variant...

As a global health emergency, the rapid spread of the novel coronavirus disease (COVID-19) led to the implementation of widespread restrictions (e.g., quarantine, physical/social distancing measures). However, while these restrictions reduce the viral spread of COVID-19, they may exacerbate behavioural and cognitive symptoms in dementia patients an...

Haploinsufficiency of the progranulin (PGRN)-encoding gene (GRN) causes frontotemporal lobar degeneration (GRN-FTLD) and results in microglial hyperactivation, TREM2 activation, lysosomal dysfunction, and TDP-43 deposition. To understand the contribution of microglial hyperactivation to pathology, we used genetic and pharmacological approaches to s...

Background: Primary progressive aphasia (PPA) may present with three distinct clinical sybtypes: semantic variant PPA (svPPA), nonfluent/agrammatic variant PPA (nfvPPA), and logopenic variant PPA (lvPPA). Objective: The aim was to examine the utility of the German version of the Repeat and Point (R&P) Test for subtyping patients with PPA. Metho...

Introduction: The behavioral variant of frontotemporal dementia (bvFTD) is a rare neurodegenerative disease. Reliable predictors of disease progression have not been sufficiently identified. We investigated multivariate magnetic resonance imaging (MRI) biomarker profiles for their predictive value of individual decline. Methods: One hundred five...

Primary progressive aphasia (PPA) may be associated with motor speech disorders (apraxia of speech, dysarthria). In this article, we review the current knowledge on the frequency of occurrence and the forms of motor speech disorders in all subtypes of PPA.

Background Tau‐proteins are established biomarkers of neuroaxonal damage in a wide range of neurodegenerative conditions. Although measurement of total‐Tau (t‐Tau) in the cerebrospinal fluid (CSF) is widely used in research and clinical settings, the relationship of age and t‐Tau in the CSF is not yet fully understood. While a small number of studi...

Background The reported sex distribution differs between frontotemporal dementia (FTD) cohorts. Possible explanations are the evolving clinical criteria of FTD and its subtypes and the discovery of FTD causal genetic mutations that have resulted in variable findings. Our aim was to determine the sex distribution in a large international retrospecti...

Background Primary progressive aphasia (PPA) is a rare primarily language‐related neurodegenerative disorder that subdivides into the non‐fluent (nfvPPA) and the semantic variant (svPPA). Atrophy progression shows variant‐specific patterns, however, its extent seems highly individual and thus difficult to predict. Method We investigated volumetric...

Objective: This study investigated the impact of the COVID-19 pandemic and the public-health measures aiming to reduce the spread of COVID-19 (i.e restrictions, social distancing, self-isolation) on neuropsychiatric symptoms of patients with different forms of dementia and the mental health of their caregivers in Germany. Method: An online-survey...

Background Reported sex distributions differ between frontotemporal dementia (FTD) cohorts. Possible explanations are the evolving clinical criteria of FTD and its subtypes and the discovery of FTD causal genetic mutations that has resulted in varying demographics. Objective Our aim was to determine the sex distribution of sporadic and genetic FTD...

Frontotemporal dementia (FTD) is a clinically and genetically heterogeneous disorder. To which extent genetic aberrations dictate clinical presentation remains elusive. We investigated the spectrum of genetic causes and assessed the genotype-driven differences in biomarker profiles, disease severity and clinical manifestation by recruiting 509 FTD...

Background and Objectives: Data on suicidal ideation, behavior and the risk factors in patients with dementia is scarce. To evaluate the prevalence of death wishes, suicidal ideation, and suicidal behavior of young (YOD) and late onset dementia (LOD) and to identify risk factors for suicidal ideation and behavior. Methods: We interviewed 157 family...

Background Tau proteins are established biomarkers of neuroaxonal damage in a wide range of neurodegenerative conditions. Although measurement of total-Tau in the cerebrospinal fluid is widely used in research and clinical settings, the relationship between age and total-Tau in the cerebrospinal fluid is yet to be fully understood. While past studi...

GRN haploinsufficiency causes frontotemporal lobar degeneration and results in microglial hyperactivation, lysosomal dysfunction and TDP-43 deposition. To understand the contribution of microglial hyperactivation to pathology we evaluated genetic and pharmacological approaches suppressing TREM2 dependent transition of microglia from a homeostatic t...

Background Alzheimer’s disease (AD) affects several cognitive functions and causes altered motor function. Fine motor deficits during object manipulation are evident in other neurological conditions, but have not been assessed in dementia patients yet. Objective Investigate reactive and anticipatory grip force control in response to unexpected and...

Neuronavigated repetitive transcranial magnetic stimulation (nrTMS) is an innovative technique that provides insight into language function with high accuracy in time and space. So far, nrTMS has mainly been applied in presurgical language mapping of patients with cranial neoplasms. For the present study nrTMS was used for language mapping in prima...

Background End of life symptoms and symptom management as well as the quality of dying (QoD) of persons with advanced dementia (PWAD) have not yet been systematically studied in Germany. Objective 1) To investigate symptoms, treatment and care at the end of life, advance care planning, and circumstances of death of recently deceased PWAD; 2) To de...

Objective Motor speech disorders (MSDs) are characteristic for nonfluent primary progressive aphasia (nfvPPA). In PPA of the semantic (svPPA) and of the logopenic type (lvPPA), speech motor function is considered typically intact. However, knowledge on the prevalence of MSDs in svPPA and lvPPA is mainly based on studies with a priori knowledge of P...

Introduction: The term primary progressive aphasia (PPA) sums up the non-fluent (nfv), the semantic (sv), and the logopenic (lv) variant. Up to now, there is only limited data available concerning magnetic resonance imaging volumetry to monitor disease progression. Methods: Structural brain imaging and an extensive assessment were applied at bas...

Importance The entry of artificial intelligence into medicine is pending. Several methods have been used for predictions of structured neuroimaging data, yet nobody compared them in this context. Objective Multi-class prediction is key for building computational aid systems for differential diagnosis. We compared support vector machine, random fore...

Background Advanced stages of dementia are characterized by severe cognitive and physical impairment. It has not yet been investigated whether persons with young onset dementia (YOD) and late onset dementia (LOD) differ in advanced disease stages. Objectives To compare quality of life (QoL) between persons with advanced YOD and LOD; to explore the...

Background Retinal vessels are similar to cerebral vessels in their structure and function. Using a non‐invasive in‐vivo technique, we demonstrated previously that retinal vessel response to flicker is more emphasized and delayed in patients with dementia due to Alzheimer’s disease (AD) compared to healthy controls (HC). Increasing evidence suggest...

Background Synaptic degeneration is a major hallmark of Alzheimer's disease (AD) and the best pathological correlate of cognitive dysfunction. Synaptic markers are therefore a highly desired read‐out for patient diagnosis and possible follow‐up in clinical trials in the mainly unsuccessful AD drug development. Several synaptic markers for AD are de...

Background Recurrent infection with herpes simplex virus type 1 (HSV1) has been discussed as contributing to Alzheimer’s disease (AD) pathology. HSV1 infection has been shown to induce beta‐amyloid (Aβ) accumulation and tau pathology in cell culture and animal models. Aβ limits the activity of the virus and might be part of the innate immune system...

Background pTau181/Aβ42 (A ⁺ /T ⁺ as per A/T/(N) classification) and tTau/Aβ42 (A ⁺ /(N) ⁺ ) ratios using fully automated Elecsys ® cerebrospinal‐fluid (CSF) immunoassays have been shown to perform well in distinguishing amyloid‐positivity (A ⁺ ) by positron emission tomography (PET) among patients with subjective and mild to severe cognitive impai...

Introduction: Dementia affects several cognitive functions and causes altered motor function. This leads to impairments in activities of daily living as adequate object manipulation requires appropriate fine motor control. Fine motor deficits during object manipulation are evident in other neurological conditions, but were not assessed in dementia...

Deciphering the genetic landscape of Alzheimer’s disease (AD) is essential to define the pathophysiological pathways involved and to successfully translate genomics to potential tailored medical care. To generate the most complete knowledge of the AD genetics, we developed through the European Alzheimer’s Disease BioBank (EADB) consortium a discove...

The author listing has been updated to indicate that Timo Grimmer and Kuangyu Shi are equally contributing authors.

Objective: We sought to characterise C9orf72 expansions in relation to genetic ancestry and age at onset (AAO), and to use these parameters to discriminate the behavioural from the language variant syndrome, in a large pan-European cohort of frontotemporal lobar degeneration (FTLD) cases. Methods: We evaluated expansions frequency in the entire...

Objective: Perirolandic atrophy occurs in corticobasal syndrome (CBS) but is not specific vs. progressive supranuclear palsy (PSP). There is heterogeneity in the locations of atrophy outside perirolandic cortex and it remains unknown why atrophy in different locations would cause the same CBS-specific symptoms. In prior work, we used a wiring diag...

Background The ε4 allele of apolipoprotein E (APOE) gene and increasing age are two of the most important known risk factors for developing Alzheimer disease (AD). The diagnosis of AD based on clinical symptoms alone is known to have poor specificity; recently developed diagnostic criteria based on biomarkers that reflect underlying AD neuropatholo...

Recently, imaging biomarkers have gained importance for the characterization of patients with Alzheimer’s disease; however, the relationship between regional biomarker expression and cognitive function remains unclear. In our study, we investigated associations between scores on CERAD neuropsychological assessment battery (CERAD-NAB) subtests with...

Background The efficacy of acetylcholinesterase inhibitors (AChE-I) might depend on blood concentration. While rivastigmine metabolism is independent of the cytochrome P450 system, its isoenzymes, especially CYP2D6, metabolize donepezil. CYP2D6 polymorphisms can cause altered enzyme activity resulting in lower or higher than expected drug concentra...

Background Modern technologies, including smartphone apps, have the potential to assist people with cognitive impairment with activities of daily living, allowing them to maintain their independence and reduce carer burden. However, such tools have seen a slow rate of uptake in this population, and data on the acceptability of assistive technologie...

We employed Mendelian randomization (MR) to evaluate the causal relationship between leukocyte telomere length (LTL) and amyotrophic lateral sclerosis (ALS) with summary statistics from genome-wide association studies (n = ~ 38,000 for LTL and ~ 81,000 for ALS in the European population; n = ~ 23,000 for LTL and ~ 4,100 for ALS in the Asian populat...

Objective: The aims of our study were to describe the clinical phenotype and to characterize the cerebral glucose metabolism patterns as measured with fluordesoxyglucose-positron emission tomography (FDG-PET) in symptomatic FTLD-patients with different GRN variants. Methods: For this study, data were included from all patients (n = 10) of a single-...

Im Rahmen des von der Europäischen Union geförderten Forschungprojekts RHAPSODY (Research to Assess Policies and Strategies for Dementia in the Young) wurde ein im Internet zugängliches Beratungsprogramm für Angehörige von Menschen mit Demenz im jüngeren Lebensalter in mehreren Sprachen entwickelt und in einer multinationalen Pilotstudie erprobt. D...

Background Acetylcholinesterase inhibitors (AChE-I) are recommended for the treatment of cognitive symptoms but also of behavioral and psychological symptoms in dementia. They are widely used not only in Alzheimer's disease, but also in other forms of dementia. Efficacy of treatment might depend on serum concentration of the respective AChE-I. Obj...

Background: Functional magnetic resonance imaging (fMRI) studies have reported altered integrity of large-scale neurocognitive networks (NCNs) in dementing disorders. However, findings on specificity of these alterations in patients with Alzheimer's disease (AD) and behavioral variant frontotemporal dementia (bvFTD) are still very limited. Recently...

Background Patients with a diagnosis of dementia face various important social and health-related decisions. Due to the progression of the disease it seems crucial that patients try to deal with these decisions early in the course of the disease to have the opportunity to make decisions autonomously. Professional support can help to plan in advance...

Background: Since people with advanced dementia are usually not able to make complex decisions, it is usually the family caregivers, as proxies, who have to decide on treatments and their termination. However, these decisions are difficult for the caregivers to make, as they are often inadequately informed and cannot properly assess the consequenc...

Following publication of the original article [1], the authors ask to correct the surname of co-author Dennis Hedderich from from Heddderich to Hedderich.

Objectives The hexanucleotide repeat expansion in the C9orf72 gene is the most common mutation associated with amyotrophic lateral sclerosis (C9-ALS) and frontotemporal dementia (C9-FTD). Until now, it is unknown which factors define whether C9orf72 mutation carriers develop ALS or FTD. Our aim was to identify protein biomarker candidates in the ce...

Synaptic degeneration is a major hallmark of Alzheimer's disease (AD) and the best pathological correlate of cognitive dysfunction. Synaptic markers are therefore a highly desired read-out for patient diagnosis and possible follow-up in clinical trials. Several synaptic markers for AD are described in cerebrospinal fluid (CSF), but studies in blood...

Purpose Impaired paravascular drainage of β-Amyloid (Aβ) has been proposed as a contributing cause for sporadic Alzheimer’s disease (AD), as decreased cerebral blood vessel pulsatility and subsequently reduced propulsion in this pathway could lead to the accumulation and deposition of Aβ in the brain. Therefore, we hypothesized that there is an inc...

Objective: The clinical diagnosis of corticobasal syndrome (CBS) represents a challenge for physicians and reliable diagnostic imaging biomarkers would support the diagnostic work-up. We aimed to investigate the neural signatures of CBS using multimodal T1-weighted and resting-state functional magnetic resonance imaging (MRI). Methods: Nineteen...

BACKGROUND Modern technologies, including smartphone apps, have the potential to assist people with cognitive impairment with activities of daily living, allowing them to maintain their independence and reduce carer burden. However, such tools have seen a slow rate of uptake in this population, and data on the acceptability of assistive technologie...