Alexander Santillo

ORCID: 0000-0001-9717-0820
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About
Contact & Profiles
Research Areas
  • Dementia and Cognitive Impairment Research
  • Alzheimer's disease research and treatments
  • Amyotrophic Lateral Sclerosis Research
  • Functional Brain Connectivity Studies
  • Advanced Neuroimaging Techniques and Applications
  • Parkinson's Disease Mechanisms and Treatments
  • Mental Health and Psychiatry
  • Prion Diseases and Protein Misfolding
  • Cerebrospinal fluid and hydrocephalus
  • Schizophrenia research and treatment
  • Epigenetics and DNA Methylation
  • Neurological disorders and treatments
  • Genetic Neurodegenerative Diseases
  • Genetic Syndromes and Imprinting
  • Bipolar Disorder and Treatment
  • Neurological diseases and metabolism
  • Pharmacological Effects and Toxicity Studies
  • Psychosomatic Disorders and Their Treatments
  • Cerebral Palsy and Movement Disorders
  • Genetic Associations and Epidemiology
  • Epilepsy research and treatment
  • Spinal Dysraphism and Malformations
  • Tryptophan and brain disorders
  • Lysosomal Storage Disorders Research
  • Neonatal and fetal brain pathology

Lund University
2016-2025

Karolinska Institutet
2017-2024

Skåne University Hospital
2014-2024

Novo Nordisk (Switzerland)
2024

Siemens (Germany)
2024

Roche (Switzerland)
2024

Fujirebio (Belgium)
2024

Novartis (Switzerland)
2024

The Memory Clinic
2014-2023

Stockholm Health Care Services
2019-2021

Increased cerebrospinal fluid neurofilament light (NfL) is a recognized biomarker for neurodegeneration that can also be assessed in blood. Here, we investigate plasma NfL as marker of 13 neurodegenerative disorders, Down syndrome, depression and cognitively unimpaired controls from two multicenter cohorts: King's College London (n = 805) the Swedish BioFINDER study 1,464). Plasma was significantly increased all cortical amyotrophic lateral sclerosis atypical parkinsonian disorders. We...

10.1038/s41467-021-23620-z article EN cc-by Nature Communications 2021-06-07

<h3>Importance</h3> The positron emission tomography (PET) tracer [<sup>18</sup>F]flortaucipir allows in vivo quantification of paired helical filament tau, a core neuropathological feature Alzheimer disease (AD), but its diagnostic utility is unclear. <h3>Objective</h3> To examine the discriminative accuracy for AD vs non-AD neurodegenerative disorders. <h3>Design, Setting, and Participants</h3> In this cross-sectional study, 719 participants were recruited from 3 dementia centers South...

10.1001/jama.2018.12917 article EN JAMA 2018-09-18

The diagnostic performance of second-generation tau positron emission tomographic (PET) tracers is not yet known.To examine the novel PET tracer RO948 F 18 ([18F]RO948) in discriminating Alzheimer disease (AD) from non-AD neurodegenerative disorders.In this study, 613 participants Swedish BioFINDER-2 study were consecutively enrolled a prospective cross-sectional September 4, 2017, to August 28, 2019. Participants included 257 cognitively unimpaired controls, 154 patients with mild cognitive...

10.1001/jamaneurol.2020.0989 article EN cc-by JAMA Neurology 2020-05-11

Objective: Around 30% of people with schizophrenia are refractory to antipsychotic treatment (treatment-resistant schizophrenia). Abnormal structural neuroimaging findings, in particular volume and thickness reductions, often described schizophrenia. Novel biomarkers active brain pathology such as neurofilament light chain protein now expected improve current understanding psychiatric disorders, including This study explored whether treatment-resistant individuals exhibit different...

10.1177/00048674241307906 article EN Australian & New Zealand Journal of Psychiatry 2025-01-04

Widespread implementation of cerebrospinal fluid (CSF) biomarkers Alzheimer's disease (AD) in clinical settings requires improved accuracy for diagnosis prodromal and distinguishing AD from non-AD dementias. Novel promising CSF include neurogranin, a marker synaptic degeneration, YKL-40, neuroinflammation.CSF neurogranin YKL-40 were measured cohort 338 individuals including cognitively healthy controls patients with stable mild cognitive impairment (sMCI), MCI who later developed (MCI-AD),...

10.1002/acn3.266 article EN cc-by-nc-nd Annals of Clinical and Translational Neurology 2015-11-20

Frontotemporal dementia (FTD) is recognised as a clinically and morphologically heterogeneous group of interrelated neurodegenerative conditions. One the subtypes within this disease spectrum behavioural variant FTD (bvFTD). This known to be varied disorder with mixture tau-positive tau-negative underlying pathologies. The other include semantic (SD), which generally exhibits pathology, progressive non-fluent aphasia (PNFA), usually tau-positive. As clinical presentation these may overlap,...

10.1186/1471-2377-13-54 article EN cc-by BMC Neurology 2013-05-29

Abstract Introduction Many patients with cognitive and neuropsychiatric symptoms face diagnostic delay misdiagnosis. We investigated whether cerebrospinal fluid (CSF) neurofilament light (NfL) total‐tau (t‐tau) could assist in the clinical scenario of differentiating neurodegenerative (ND) from psychiatric disorders (PSY), rapidly progressive disorders. Methods Biomarkers were examined specialist services (ND PSY) a national Creutzfeldt‐Jakob registry (Creutzfeldt‐Jakob disease [CJD]...

10.1002/alz.12549 article EN Alzheimer s & Dementia 2022-02-01

Objective: Blood biomarkers of neuronal injury such as neurofilament light (NfL) show promise to improve diagnosis neurodegenerative disorders and distinguish from primary psychiatric (PPD). This study investigated the diagnostic utility plasma NfL differentiate behavioural variant frontotemporal dementia (bvFTD, a disorder commonly misdiagnosed initially PPD), PPD, performance large normative/reference data sets models. Methods: Plasma was analysed in major depressive (MDD, n = 42), bipolar...

10.1177/00048674231187312 article EN Australian & New Zealand Journal of Psychiatry 2023-07-21

Abstract 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 cohesive clinical phenotype. METHODS Retrospective data from 18 centers across 12 countries yielded 360 FTD patients predominant RATL atrophy through initial neuroimaging assessments. RESULTS Common symptoms included mental rigidity/preoccupations (78%),...

10.1002/alz.14076 article EN cc-by Alzheimer s & Dementia 2024-07-10

Abstract INTRODUCTION People with neurodegenerative disorders (ND) frequently face diagnostic delay and misdiagnosis. We investigated blood cerebrospinal fluid (CSF) neurofilament light chain (NfL) to distinguish ND from primary psychiatric (PPD), a common challenge in clinical settings. METHODS Plasma CSF NfL levels were measured compared between groups, adjusting for age, sex, weight. RESULTS A total of 337 participants included: 136 ND, 77 PPD, 124 Controls. was 2.5‐fold elevated PPD had...

10.1002/alz.14278 article EN cc-by Alzheimer s & Dementia 2024-10-06

von Economo neurones (VEN) are bipolar located in the anterior cingulate cortex (ACC) and frontoinsular (FI), areas affected early behavioural variant frontotemporal dementia (bvFTD), which VEN may constitute a selectively vulnerable cellular population.A previous study has shown selective loss of FTD above other ACC FTD. The aim this was to confirm finding larger cohort, using different methodology, examine relation neuropathological severity molecular pathology.VEN neighbouring (NN) were...

10.1111/nan.12021 article EN other-oa Neuropathology and Applied Neurobiology 2013-01-25

MRI diffusion tensor imaging (DTI) studies of white matter integrity in behavioral variant frontotemporal dementia have consistently shown involvement frontal and temporal matter, corresponding to regional loss cortical volume. Volumetric has a suboptimal sensitivity as diagnostic tool thus we wanted explore if DTI is better method discriminate patients controls than volumetric imaging. We examined the anterior cingulum bundle 14 with 22 healthy using deterministic manual tractography,...

10.1371/journal.pone.0066932 article EN cc-by PLoS ONE 2013-07-18

Abstract Objective: People with neuropsychiatric symptoms often experience delay in accurate diagnosis. Although cerebrospinal fluid neurofilament light (CSF NfL) shows promise distinguishing neurodegenerative disorders (ND) from psychiatric (PSY), its accuracy a diagnostically challenging cohort longitudinally is unknown. Methods: We collected longitudinal diagnostic information (mean = 36 months) patients assessed at neuropsychiatry service, categorising diagnoses as ND/mild cognitive...

10.1017/neu.2023.25 article EN cc-by Acta Neuropsychiatrica 2023-04-28

<h3>Importance</h3> Criminal and socially inappropriate behavior is encountered among patients with dementia, it sometimes the first sign of a dementing disorder. This constitutes significant burden to society, patients' relatives, themselves. <h3>Objectives</h3> To investigate compare prevalence type criminal behavior, as well recurrence associated Alzheimer disease (AD) frontotemporal dementia (FTD) neuropathologically verified post mortem, assess whether there specific protein pathology...

10.1001/jamanetworkopen.2019.0261 article EN cc-by-nc-nd JAMA Network Open 2019-03-29

Abstract Retention of 18 F-Flortaucipir is reportedly increased in the semantic variant primary progressive aphasia (svPPA), which dominated by TDP-43 pathology. However, it unclear if also other diseases, such as bvFTD caused a C9orf72 gene mutation. We therefore recruited six expansion carriers, svPPA patients, and 54 healthy controls. All underwent PET MRI scanning. Data from 39 Alzheimer’s Disease patients were used for comparison. tracer retention was assessed both at region-of-interest...

10.1038/s41598-019-42625-9 article EN cc-by Scientific Reports 2019-04-15

Neurofilaments are structural components of neurons and particularly abundant in highly myelinated axons. The levels neurofilament light chain (NfL) both cerebrospinal fluid (CSF) plasma have been related to degeneration several neurodegenerative conditions including frontotemporal dementia (FTD) NfL is currently considered as the most promising diagnostic prognostic biomarker FTD. Although location function filaments healthy nervous system suggests a link between increased white matter...

10.1371/journal.pone.0236384 article EN cc-by PLoS ONE 2020-10-27

Schizophrenia, a complex psychiatric disorder, is often associated with cognitive, neurological and neuroimaging abnormalities. The processes underlying these abnormalities, whether subset of people schizophrenia have neuroprogressive or neurodegenerative component to schizophrenia, remain largely unknown. Examining fluid biomarkers diverse types neuronal damage could increase our understanding processes, as well potentially provide clinically useful biomarkers, for example assisting...

10.1177/00048674211058684 article EN Australian & New Zealand Journal of Psychiatry 2021-11-17

Neurofilament light chain (NfL), a blood biomarker of neuronal injury, shows promise in distinguishing neurodegenerative disorders from psychiatric conditions. This is especially relevant psychosis, given neurological conditions such as autoimmune encephalitis and Niemann Pick Type C disease (NPC) may initially present with psychotic symptoms. Whilst NfL levels have been studied established schizophrenia cases, their first-episode psychosis (FEP) ultra-high risk (UHR) for individuals remain...

10.1016/j.schres.2024.04.003 article EN cc-by Schizophrenia Research 2024-04-06
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