A5103147702- Dementia and Cognitive Impairment Research
- Alzheimer's disease research and treatments
- Amyotrophic Lateral Sclerosis Research
- Advanced Neuroimaging Techniques and Applications
- Genetic Neurodegenerative Diseases
- S100 Proteins and Annexins
- Cerebrovascular and genetic disorders
- Mental Health and Psychiatry
- Cerebrospinal fluid and hydrocephalus
- Functional Brain Connectivity Studies
- Elder Abuse and Neglect
- Mitochondrial Function and Pathology
- Spinal Dysraphism and Malformations
- Parkinson's Disease Mechanisms and Treatments
- Epigenetics and DNA Methylation
- Frailty in Older Adults
- Social and Educational Sciences
- Botulinum Toxin and Related Neurological Disorders
- Autoimmune Neurological Disorders and Treatments
- Protein Tyrosine Phosphatases
- Traumatic Brain Injury Research
- Neurological Disease Mechanisms and Treatments
- Cerebral Palsy and Movement Disorders
- Craniofacial Disorders and Treatments
- Neuroscience of respiration and sleep
Lund University
2015-2024
Skåne University Hospital
2018
Autosomal-dominant ataxia with sensory and autonomic neuropathy is a highly specific combined phenotype that we described in two Swedish kindreds 2014; its genetic cause had remained unknown. Here, report the discovery of exonic GGC trinucleotide repeat expansions, encoding poly-glycine, zinc finger homeobox 3 (ZFHX3) these families. The expansions were identified whole-genome datasets within genomic segments all affected family members shared. Non-expanded alleles carried one or more...
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),...
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%),...
ABSTRACT Background: Frontotemporal dementia (FTD) constitutes a spectrum of neurodegenerative disorders associated with degeneration of, predominantly, the frontal and temporal lobes. The clinical heterogeneity is evident, early diagnosis challenge. primary objectives were to characterize psychotic symptoms, initial diagnoses family history in neuropathologically verified FTD-patients analyze possible correlations different neuropathological findings. Methods: medical records 97 consecutive...
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,...
Background:Alzheimer's disease (AD) is the most prevalent cause of dementia with vascular (VaD) being second alongside mixed AD and VaD, according to some. For some time, it has been proposed that cardiovascular (CaVD), hypertension, diabetes mellitus (DM), which are known risk factors for also associated contribute development AD. Objective:The aim this study was investigate prevalence these general factors, document presence CaVD as evidenced from clinical records or autopsy findings,...
<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...
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...
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...
Abstract The paracingulate sulcus is a tertiary formed during the third trimester. In healthy individuals sulcation more prevalent in left hemisphere. anterior cingulate and gyri are focal points of neurodegeneration behavioral variant frontotemporal dementia (bvFTD). This study aims to determine prevalence impact bvFTD. Structural magnetic resonance images with bvFTD (n = 105, mean age 66.9 years), Alzheimer’s disease 92, 73.3), controls 110, 62.4) were evaluated using standard protocol for...
The aim of this study was to investigate and compare the prevalence recurrence police interaction (PI) with patients diagnosed dementia. We also aimed reason behind PI, time occurrence potential consequences PI.For retrospective medical records' review, we included 281 cases a neuropathologic dementia diagnosis from Department Pathology, Region Skane/Lund University, between 1967 2013. diagnoses were Alzheimer disease, frontotemporal lobar degeneration, vascular dementia, mixed A...
Objective To investigate the prevalence of physical aggression among patients with dementia different types and to analyze potential differences in clinical traits, terms singular or repetitive behavior occurrence early late stage disease. We also aimed at examining against whom was exerted. Methods included 281 cases a neuropathological diagnosis from brain bank Department Pathology, Lund University, for this retrospective medical records review. The study covers post‐mortem examination...
Disinhibition is an important symptom in neurodegenerative diseases. However, the clinico-anatomical underpinnings remain controversial. We explored anatomical correlates of disinhibition disease using perspective grey and white matter imaging. was assessed with a neuropsychological test caregiver information-based clinical rating scale 21 patients prefrontal syndromes due to behavioural variant frontotemporal dementia (n = 12) or progressive supranuclear palsy 9), healthy controls 25)....
Abstract Hereditary ataxia is a heterogeneous group of complex neurological disorders. Next-generation sequencing methods have become great help in clinical diagnostics, but it may remain challenging to determine if genetic variant the cause patient’s disease. We compiled consecutive single-center series 87 patients from 76 families with progressive known or unknown etiology. investigated them clinically and genetically using whole exome genome sequencing. Test were selected depending on...
Diagnosis of frontotemporal dementia (FTD) is complicated by the overlap clinical symptoms with other disorders. Development robust fluid biomarkers critical to improve diagnostic work-up FTD.CSF concentrations placental growth factor (PlGF) were measured in discovery cohort including patients FTD (n = 27), Alzheimer disease (AD) 75), DLB or PDD 47), subcortical vascular (VaD, n 33), mild cognitive impairment that later converted AD (MCI-AD, 34), stable MCI (sMCI, 62), and 50 cognitively...
The semantic variant of primary progressive aphasia (svPPA) is a clinical syndrome characterized by neurodegeneration and loss knowledge. Unlike many other forms frontotemporal lobar degeneration (FTLD), svPPA has highly consistent underlying pathology composed TDP-43 (a regulator RNA DNA transcription metabolism). Previous genetic studies are limited small sample sizes paucity common risk variants. Despite this, svPPA's relatively homogenous clinicopathologic phenotype makes it an ideal...
To examine [18F]RO948 retention in FTD, sampling the underlying protein pathology heterogeneity.A total of 61 individuals with FTD (n = 35), matched cases AD 13) and Aβ-negative cognitively unimpaired underwent [18F]RO948PET MRI. included 21 behavioral variant (bvFTD) cases, 11 symptomatic C9orf72 mutation carriers, one patient non-genetic bvFTD-ALS, individual bvFTD due to a GRN mutation, MAPT (R406W). Tracer was examined using region-of-interest voxel-wise approaches. Two (bvFTD C9orf72)...
Abstract Accurate diagnosis of frontotemporal dementia (FTD) with right anterior temporal lobe (RATL) predominance remains challenging due to lack clinical characterization, and standardized terminology. The recent research the International Working Group (IWG) identified common symptoms but also unveiled broad terminologies lacking precision operationalization, risk misdiagnoses, inappropriate referrals poor management. Based on published evidence (91267 articles screened) expert opinion...
Using multi-block methods we combined multimodal neuroimaging metrics of thalamic morphology, white matter tract diffusion metrics, and cortical thickness to examine changes in behavioural variant frontotemporal dementia. (bvFTD).Twenty-three patients with sporadic bvFTD 24 healthy controls underwent structural MRI scans. Clinical severity was assessed using the Dementia Rating scale Frontal Behaviour Inventory by patient caregivers. Thalamic volumes were manually segmented. Anterior...
The aim of this study was to assess the psychometric properties a Swedish version Hayling test (HT-S) and its clinical utility in group patients with different frontotemporal dementia (FTD) syndromes. Early diagnosis FTD is challenge requires broad arsenal assessment methods, neuropsychological tests not least. assesses executive functions including initiation, efficiency response inhibition.Seventy-six healthy controls were included as well behavioral variant (bvFTD; n = 17), semantic (SD,...
Neurocognitive disorder encompasses many separate diagnoses, such as frontotemporal dementia (FTD), Alzheimer's disease (AD), Lewy body (LBD), vascular (VaD), and mixed (MD). Because of the variations between within each subtype, it may be a challenge to clinically diagnose condition. In previous study on 176 patients in university hospital cohort years 1996 2006, full diagnostic concordance 49% was demonstrated clinical diagnoses pathological morphology [1]. The aims this were do follow-up...