462 results match your criteria neuropsychological endophenotypes

Neurocognitive Endophenotypes of OCD.

Matilde M Vaghi

Curr Top Behav Neurosci 2021 Mar 10. Epub 2021 Mar 10.

Max Planck UCL Centre for Computational Psychiatry and Ageing Research, London, UK.

In this chapter, I address the concept of endophenotypes for obsessive-compulsive disorder (OCD). Endophenotypes are objective and heritable quantitative traits hypothesized to be more biologically tractable than distal clinical phenotypes. This approach has been adopted to gain a better understanding of psychiatric conditions in general. Read More

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Neurocognitive endophenotypes in pediatric OCD probands, their unaffected parents and siblings.

Prog Neuropsychopharmacol Biol Psychiatry 2021 Feb 18;110:110283. Epub 2021 Feb 18.

Department of Psychiatry, Massachusetts General Hospital/Harvard Medical School, Boston, MA, USA.

Background: Limited extant research on neurocognitive endophenotypes in obsessive-compulsive disorder (OCD) show inconsistent results. Limitations of this body of literature include small sample sizes, strict exclusion criteria, lack of objective standard normalized test scores, and significant lack of studies utilizing pediatric probands. This study aimed to address these limitations. Read More

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February 2021

Working memory deficits in schizophrenia are associated with the rs34884856 variant and expression levels of the NR4A2 gene in a sample Mexican population: a case control study.

BMC Psychiatry 2021 02 9;21(1):86. Epub 2021 Feb 9.

Laboratory of Neurotoxicology, Instituto Nacional de Neurología y Neurocirugía, "Manuel Velasco Suárez", SS, Av. Insurgentes Sur No. 3877, Col. La Fama, C.P. 14269, Mexico City, Mexico.

Background: Cognitive functions represent useful endophenotypes to identify the association between genetic variants and schizophrenia. In this sense, the NR4A2 gene has been implicated in schizophrenia and cognition in different animal models and clinical trials. We hypothesized that the NR4A2 gene is associated with working memory performance in schizophrenia. Read More

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February 2021

Self-perceived cognitive lapses and psychological well-being in schizotypy: Generalized and domain-specific associations.

Scand J Psychol 2021 Apr 29;62(2):134-140. Epub 2020 Dec 29.

Department of Psychology, Faculty of Social Sciences, University of Crete, Gallos University campus, Rethymno 74100, Crete, Greece.

A critical link between schizotypy and schizophrenia is impoverished cognitive functioning. In the majority of studies, though: (1) cognition is examined with standard neuropsychological tasks; and (2) high-schizotypal individuals are defined according to criteria applied in the respective study sample. Taking these considerations into account, the aims of the present study were to examine: (1) differences between four pre-defined, according to normative criteria, schizotypal (paranoid, negative, disorganized and cognitive-perceptual) and one control groups in self-perceived cognitive lapses; and (2) associations between schizotypal dimensions, self-perceived cognitive lapses and psychological well-being. Read More

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Improving neurocognitive testing using computational psychiatry-A systematic review for ADHD.

Psychol Bull 2021 02 28;147(2):169-231. Epub 2020 Dec 28.

Department of Psychiatry and Behavioral Health, The Ohio State University.

Computational models, in conjunction with (neuro)cognitive tests, are increasingly used to understand the cognitive characteristics of participants with attention-deficit/hyperactivity disorder (ADHD). We reviewed 50 studies from a broad range of cognitive tests for ADHD to synthesize findings and to summarize the new insights provided by three commonly applied computational models (i.e. Read More

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February 2021

Autism Spectrum Disorder and Disruptive Behavior Disorders Comorbidities Delineate Clinical Phenotypes in Attention-Deficit Hyperactivity Disorder: Novel Insights from the Assessment of Psychopathological and Neuropsychological Profiles.

J Clin Med 2020 Nov 26;9(12). Epub 2020 Nov 26.

IRCCS Stella Maris, Scientific Institute of Child Neurology and Psychiatry, Calambrone, 56128 Pisa, Italy.

Although childhood-onset psychiatric disorders are often considered as distinct and separate from each other, they frequently co-occur, with partial overlapping symptomatology. Autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) commonly co-occur with each other and with other mental disorders, particularly disruptive behavior disorders, oppositional defiant disorder/conduct disorder (ODD/CD). Whether these associated comorbidities represent a spectrum of distinct clinical phenotypes is matter of research. Read More

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November 2020

Behavioral and Psychological Symptoms of Dementia (BPSD): Clinical Characterization and Genetic Correlates in an Italian Alzheimer's Disease Cohort.

J Pers Med 2020 Aug 14;10(3). Epub 2020 Aug 14.

Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, 25123 Brescia, Italy.

Background: The occurrence of Behavioral and Psychological Symptoms of Dementia (BPSD) in Alzheimer's Disease (AD) patients hampers the clinical management and exacerbates the burden for caregivers. The definition of the clinical distribution of BPSD symptoms, and the extent to which symptoms are genetically determined, are still open to debate. Moreover, genetic factors that underline BPSD symptoms still need to be identified. Read More

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Heritability of specific cognitive functions and associations with schizophrenia spectrum disorders using CANTAB: a nation-wide twin study.

Psychol Med 2020 Aug 11:1-14. Epub 2020 Aug 11.

Center for Clinical Intervention and Neuropsychiatric Schizophrenia Research (CINS) and Center for Neuropsychiatric Schizophrenia Research, Mental Health Center Glostrup, Glostrup, Denmark.

Background: Many cognitive functions are under strong genetic control and twin studies have demonstrated genetic overlap between some aspects of cognition and schizophrenia. How the genetic relationship between specific cognitive functions and schizophrenia is influenced by IQ is currently unknown.

Methods: We applied selected tests from the Cambridge Neuropsychological Test Automated Battery (CANTAB) to examine the heritability of specific cognitive functions and associations with schizophrenia liability. Read More

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Effect of alcohol use disorder family history on cognitive function.

Psychol Med 2020 Jul 14:1-13. Epub 2020 Jul 14.

Centre for Psychiatry Research, Karolinska Institutet & Stockholm Health Care Services, Stockholm County Council, Stockholm, Sweden.

Background: Alcohol use disorder (AUD) is associated with cognitive deficits but little is known to what degree this is caused by genetically influenced traits, i.e. endophenotypes, present before the onset of the disorder. Read More

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Motor hyperactivation during cognitive tasks: An endophenotype of juvenile myoclonic epilepsy.

Epilepsia 2020 07 25;61(7):1438-1452. Epub 2020 Jun 25.

Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK.

Objective: Juvenile myoclonic epilepsy (JME) is the most common genetic generalized epilepsy syndrome. Myoclonus may relate to motor system hyperexcitability and can be provoked by cognitive activities. To aid genetic mapping in complex neuropsychiatric disorders, recent research has utilized imaging intermediate phenotypes (endophenotypes). Read More

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Cognitive profiles of healthy siblings of first-episode schizophrenia patients.

Early Interv Psychiatry 2021 Jun 2;15(3):554-562. Epub 2020 Jun 2.

Diagnostics and Treatment of Mental Disorders, National Institute of Mental Health, Klecany, Czech Republic.

Aim: Cognitive deficit in psychotic illness is intensively studied, different cognitive subtypes have been suggested. In recent years, there has been an increase in the number of studies in patients with schizophrenia and their relatives searching for endophenotypes of the disease. The aim of our study was to investigate cognitive performance and cognitive subtypes in the siblings of the patients. Read More

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Executive functions in youths with autism spectrum disorder and their unaffected siblings.

Psychol Med 2020 Apr 30:1-10. Epub 2020 Apr 30.

Department of Psychiatry, National Taiwan University Hospital & College of Medicine, Taipei, Taiwan.

Background: Executive dysfunction is one of the main cognitive theories of autism spectrum disorder (ASD). Despite evidence of deficits in executive functions in individuals with ASD, little is known about executive dysfunctions as candidate cognitive endophenotypes for ASD. In this study, we investigated executive functions in youths with ASD, their unaffected siblings and typically developing controls (TDC). Read More

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New Evidences about Subjective Well-Being in Adolescence and Its Links with Neurocognitive Performance.

Int J Environ Res Public Health 2020 03 13;17(6). Epub 2020 Mar 13.

Department of Educational Sciences, University of La Rioja, 26002 Logroño, Spain.

The main purpose of the present work was to study the neurocognitive endophenotypes of adolescents at risk for low personal wellbeing. The sample included a total of 1588 adolescents from stratified random cluster sampling; derived from this sample, a group of high-risk ( = 84) and a control group ( = 84) were selected. The personal well-being index-school children (PWI-SC), the University of Pennsylvania computerized neuropsychological test battery for children (included 14 tasks assessing five neurobehavioral domains: executive functions, episodic memory, complex cognition, social cognition and sensorimotor speed), and the strengths and difficulties questionnaire (SDQ) were used. Read More

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Neurodevelopmental pathways in bipolar disorder.

Neurosci Biobehav Rev 2020 05 5;112:213-226. Epub 2020 Feb 5.

Department of Psychiatry, University of Toronto, Toronto, ON, Canada; Centre for Addiction and Mental Health (CAMH), Toronto, ON, Canada. Electronic address:

Aberrations in neurodevelopmental trajectories have been implicated in the neurobiology of several mental disorders and evidence indicates a pathophysiological and genetic overlap of schizophrenia and bipolar disorder (BD). In this narrative review, we summarize findings related to developmental and perinatal factors as well as epidemiological, clinical, neuropsychological, brain imaging, postmortem brain and genomic studies that provide evidence for a putative neurodevelopmental pathogenesis and etiology of BD. Overall, aberrations in neurodevelopmental pathways have been more consistently implicated in the pathophysiology of schizophrenia compared to BD. Read More

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Deviation from expected cognitive ability is a core cognitive feature of schizophrenia related to neurophysiologic, clinical and psychosocial functioning.

Schizophr Res 2020 01 16;215:300-307. Epub 2019 Nov 16.

VISN-22 Mental Illness, Research, Education and Clinical Center (MIRECC), VA San Diego Healthcare System, San Diego, CA, USA; Department of Psychiatry, University of California San Diego, La Jolla, CA, USA. Electronic address:

Cognitive functioning in schizophrenia is characterized by a generalized impairment in current cognitive ability based on traditional population-based norms. However, these norms assume a normal cognitive trajectory and do not directly account for illness-related declines from expected cognitive potential. Indeed, schizophrenia patients exhibit even greater deviation between their observed and expected cognitive functioning based on expanded norms that leverage premorbid variables resistant to illness-related features. Read More

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January 2020

Endophenotypes of executive functions in obsessive compulsive disorder? A meta-analysis in unaffected relatives.

Psychiatr Genet 2019 12;29(6):211-219

Division of Psychiatry, University College London, London.

Endophenotypes are mediator traits between genetic influences and clinical phenotypes. Meta-analyses have consistently shown modest impairments of executive functioning in obsessive compulsive disorder (OCD) patients compared to healthy controls. Similar deficits have also been reported in unaffected relatives of OCD patients, but have not been quantified. Read More

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December 2019

Developmental MRI markers cosegregate juvenile patients with myoclonic epilepsy and their healthy siblings.

Neurology 2019 09 29;93(13):e1272-e1280. Epub 2019 Aug 29.

From the Neuroimaging of Epilepsy Laboratory (B.W., S.-J.H., B.C.B., F.F., N.B., A.B.), McConnell Brain Imaging Center, Montreal Neurological Institute, McGill University, Montreal; Department of Clinical and Experimental Epilepsy (B.W., C.V., M.J.K.), UCL Institute of Neurology, London, UK; Epilepsy Center, Department of Neurology (C.V.), Klinikum Großhadern, University of Munich, Germany; and Multimodal Imaging and Connectome Analysis Lab (B.C.B.), Montreal Neurological Institute and Hospital, McGill University, Montreal, Canada.

Objective: MRI studies of genetic generalized epilepsies have mainly described group-level changes between patients and healthy controls. To determine the endophenotypic potential of structural MRI in juvenile myoclonic epilepsy (JME), we examined MRI-based cortical morphologic markers in patients and their healthy siblings.

Methods: In this prospective, cross-sectional study, we obtained 3T MRI in patients with JME, siblings, and controls. Read More

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September 2019

Aberrant cognition in newly diagnosed patients with bipolar disorder and their unaffected relatives.

Psychol Med 2020 08 28;50(11):1808-1819. Epub 2019 Aug 28.

Copenhagen Affective Disorder research Centre (CADIC), Psychiatric Centre Copenhagen, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.

Background: Patients with bipolar disorder (BD) experience persistent impairments in both affective and non-affective cognitive function, which is associated with a worse course of illness and poor functional outcomes. Nevertheless, the temporal progression of cognitive dysfunction in BD remains unclear and the identification of objective endophenotypes can inform the aetiology of BD.

Methods: The present study is a cross-sectional investigation of cognitive baseline data from the longitudinal Bipolar Illness Onset-study. Read More

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Evidence of shared familial factors influencing neurocognitive endophenotypes in adult- and childhood-onset schizophrenia.

Psychol Med 2020 07 31;50(10):1672-1679. Epub 2019 Jul 31.

Department of Psychiatry and Biobehavioral Sciences, University of California Los Angeles, Los Angeles, CA, USA.

Background: The aggregation of neurocognitive deficits among the non-psychotic first-degree relatives of adult- and childhood-onset schizophrenia patients suggests that there may be a common etiology for these deficits in childhood- and adult-onset illness. However, there is considerable heterogeneity in the presentation of neurobiological abnormalities, and whether there are differences in the extent of familial transmission for specific domains of cognitive function has not been systematically addressed.

Methods: We employed variance components analysis, as implemented in SOLAR-Eclipse, to evaluate the evidence of familial transmission for empirically derived composite scores representing attention, working memory, verbal learning, verbal retention, and memory for faces. Read More

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Visual memory dysfunction as a neurocognitive endophenotype in bipolar disorder patients and their unaffected relatives. Evidence from a 5-year follow-up Valencia study.

J Affect Disord 2019 10 2;257:31-37. Epub 2019 Jul 2.

Centro Investigación Biomédica en Red de Salud Mental, CIBERSAM, Madrid, Spain; INCLIVA Health Research Institute, Valencia, Spain; TMAP Unidad de evaluación en autonomía personal, dependencia y trastornos mentales graves, Department of Medicine, University of Valencia, Valencia, Spain; Teaching Unit of Psychiatry and Psychological Medicine, Department of Medicine, University of Valencia, Valencia, Spain. Electronic address:

Background: Scarce research has focused on Visual Memory (VM) deficits as a possible neurocognitive endophenotype of bipolar disorder (BD). The main aim of this longitudinal, family study with healthy controls was to explore whether VM dysfunction represents a neurocognitive endophenotype of BD.

Methods: Assessment of VM by Rey-Osterrieth Complex Figure Test (ROCF) was carried out on a sample of 317 subjects, including 140 patients with BD, 60 unaffected first-degree relatives (BD-Rel), and 117 genetically-unrelated healthy controls (HC), on three occasions over a 5-year period (T1, T2, and T3). Read More

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October 2019

Disentangling Heterogeneity in Alzheimer's Disease: Two Empirically-Derived Subtypes.

J Alzheimers Dis 2019 ;70(1):227-239

Department of Psychology, University of Southern California, Los Angeles, CA, USA.

Background: Clinical-pathological Alzheimer's disease (AD) subtypes may help distill heterogeneity in patient presentation. To date, no studies have utilized neuropsychological and biological markers to identify preclinical subtypes with longitudinal stability.

Objective: The objective of this study was to empirically derive AD endophenotypes using a combination of cognitive and biological markers. Read More

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September 2020

White matter endophenotype candidates for ADHD: a diffusion imaging tractography study with sibling design.

Psychol Med 2020 05 22;50(7):1203-1213. Epub 2019 May 22.

Department of Psychiatry, National Taiwan University Hospital and College of Medicine, Taipei, Taiwan.

Background: Brain structural alterations are frequently observed in probands with attention-deficit/hyperactivity disorder (ADHD). Here we examined the microstructural integrity of 76 white matter tracts among unaffected siblings of patients with ADHD to evaluate the potential familial risk and its association with clinical and neuropsychological manifestations.

Methods: The comparison groups included medication-naïve ADHD probands (n = 50), their unaffected siblings (n = 50) and typically developing controls (n = 50, age-and-sex matched with ADHD probands). Read More

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Attention as neurocognitive endophenotype of ADHD across the life span: a family study.

Eur Arch Psychiatry Clin Neurosci 2019 Sep 8;269(6):627-644. Epub 2019 May 8.

Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital Frankfurt, Goethe University Frankfurt am Main, Deutschordenstr. 50, 60528, Frankfurt am Main, Germany.

Endophenotypes mediate pathways between genetic variations and the psychiatric phenotype, or share genetic risk with the psychiatric phenotype. Identifying endophenotypes is an important step to unravel disease pathways underlying complex psychiatric phenotypes such as ADHD. Potential viable endophenotypes for ADHD across the lifespan are neurocognitive measures of basic attention functions, such as sustained attention, and executive attention functions (EF), such as inhibition. Read More

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September 2019

BDNF polymorphism in non-veridical decision making and differential effects of rTMS.

Behav Brain Res 2019 05 15;364:177-182. Epub 2019 Feb 15.

Department of Penal Law, School of Law, University of Tartu (Tallinn branch), Kaarli puiestee 3, 10119 Tallinn, Estonia.

Making decisions when an objectively correct option is not obvious, involves different neurobiological mechanisms than "veridical" decision making. The dorsolateral prefrontal cortex (DLPFC) exhibits a distinct pattern of prefrontal activation in non-veridical cognition, but little is known about the role of underlying neurobiological endophenotypes. A functional polymorphism in the brain-derived neurotrophic factor (BDNF) gene, causing a valine (Val) to methionine (Met) amino acid substitution at codon 66, has been shown to be associated with structural and functional changes in DLPFC and affect veridical decision making. Read More

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Application of eye trackers for understanding mental disorders: Cases for schizophrenia and autism spectrum disorder.

Neuropsychopharmacol Rep 2019 06 2;39(2):72-77. Epub 2019 Feb 2.

Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan.

Studies of eye movement have become an essential tool of basic neuroscience research. Measures of eye movement have been applied to higher brain functions such as cognition, social behavior, and higher-level decision-making. With the development of eye trackers, a growing body of research has described eye movements in relation to mental disorders, reporting that the basic oculomotor properties of patients with mental disorders differ from those of healthy controls. Read More

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Working Memory and Attention Influence Antisaccade Error Rate in Schizophrenia.

J Int Neuropsychol Soc 2018 Dec 18:1-10. Epub 2018 Dec 18.

1Monash Alfred Psychiatry Research Centre (MAPrc),The Alfred Hospital and Central Clinical School,Monash University,Melbourne,Australia.

Objectives: Antisaccade error rate has been proposed to be one of the most promising endophenotypes for schizophrenia. Increased error rate in patients has been associated with working memory, attention and other executive function impairments. The relationship between antisaccade error rate and other neuropsychological processes in patients compared to healthy controls has not been explored in depth. Read More

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December 2018

The reality of "food porn": Larger brain responses to food-related cues than to erotic images predict cue-induced eating.

Psychophysiology 2019 04 16;56(4):e13309. Epub 2018 Dec 16.

Department of Family and Community Medicine, University of Arizona, College of Medicine-Tucson, Tucson, Arizona.

While some individuals can defy the lure of temptation, many others find appetizing food irresistible. The goal of this study was to investigate the neuropsychological mechanisms that increase individuals' vulnerability to cue-induced eating. Using ERPs, a direct measure of brain activity, we showed that individuals with larger late positive potentials in response to food-related cues than to erotic images are more susceptible to cue-induced eating and, in the presence of a palatable food option, eat more than twice as much as individuals with the opposite brain reactivity profile. Read More

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Numerical Processing Impairment in 22q11.2 (LCR22-4 to LCR22-5) Microdeletion: A Cognitive-Neuropsychological Case Study.

Front Psychol 2018 21;9:2193. Epub 2018 Nov 21.

Laboratório de Neuropsicologia do Desenvolvimento, Departamento de Psicologia, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.

Although progress has been made, the cognitive, biological and, particularly, the genetic underpinnings of math learning difficulties (MD) remain largely unknown. This difficulty stems from the heterogeneity of MD and from the large contribution of environmental factors to its etiology. Understanding endophenotypes, e. Read More

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November 2018

Neurocognitive Endophenotypes of Schizophrenia and Bipolar Disorder and Possible Associations with FKBP Variant rs3800373.

Med Arch 2018 Nov;72(5):352-356

Psychiatric Clinic, Clinical Center University of Sarajevo, Sarajevo, Bosnia and Herzegovina.

Introduction: Schizophrenia(SCZ) and Bipolar disorder (BD) are frequently occurring and impairing disorders that affect around 1% of the population. Important endophenotypes in the genetic research of SCZ and BD are cognitive functions. Core symptoms for SCZ and BD are impairments in working memory, declarative memory and attention, all of which fulfill the criteria for an endophenotype. Read More

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November 2018

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

Brain 2019 01;142(1):193-208

Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands.

Developing and validating sensitive biomarkers for the presymptomatic stage of familial frontotemporal dementia is an important step in early diagnosis and for the design of future therapeutic trials. In the longitudinal Frontotemporal Dementia Risk Cohort, presymptomatic mutation carriers and non-carriers from families with familial frontotemporal dementia due to microtubule-associated protein tau (MAPT) and progranulin (GRN) mutations underwent a clinical assessment and multimodal MRI at baseline, 2-, and 4-year follow-up. Of the cohort of 73 participants, eight mutation carriers (three GRN, five MAPT) developed clinical features of frontotemporal dementia ('converters'). Read More

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January 2019