567 research outputs found
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A foreign speech accent in a case of conversion disorder
Objective: The aim of this paper is to report the psychiatric, neuroradiological and linguistic characteristics in a native speaker of Dutch who developed speech symptoms which strongly resemble Foreign Accent Syndrome.
Background: Foreign Accent Syndrome is a rare speech production disorder in which the speech of a patient is perceived as foreign by speakers of the same speech community. This syndrome is generally related to focal brain damage. Only in few reported cases the Foreign Accent Syndrome is assumed to be of psychogenic and/or psychotic origin.
Method: In addition to clinical and neuroradiological examinations, an extensive test battery of standardized neuropsychological and neurolinguistic investigations was carried out. Two samples of the patient's spontaneous speech were analysed and compared to a 500,000-words reference corpus of 160 normal native speakers of Dutch.
Results: The patient had a prominent French accent in her pronunciation of Dutch. This accent had persisted over the past eight years and has become progressively stronger. The foreign qualities of her speech did not only relate to pronunciation, but also to the lexicon, syntax and pragmatics. Structural as well as functional neuroimaging did not reveal evidence that could account for the behavioural symptoms. By contrast psychological investigations indicated conversion disorder.
Conclusions: To the best of our knowledge this is the first reported case of a foreign accent like syndrome in conversion disorder
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Foreign accent syndrome as a developmental motor speech disorder
Introduction: Foreign Accent Syndrome (FAS) is a relatively rare motor speech disorder in which the pronunciation of a patient is perceived by listeners of the same language community as distinctly foreign. FAS has been well documented in adult patients with etiologically heterogeneous, though mostly vascular brain lesions affecting the motor speech network of the language dominant hemisphere. In addition, reports exist of adult patients in whom FAS was due to a psychiatric illness. Although FAS has been reported in children, such accounts are rare and have remained largely anecdotal in that there have been no formally documented cases of FAS as a developmental motor speech disorder.
Methods and results: For the first time, we describe the clinical, cognitive and neurolinguistic findings in two patients who in the absence of a history of psychiatric illness or acquired brain damage already presented with FAS at an early stage of speech and language development. In the first patient “developmental FAS” was associated with a dysharmonic distribution of neurocognitive test results indicating slight underdevelopment of visuo-spatial skills and visual memory. The second patient presented with “developmental FAS” associated with specific language impairment (SLI). Independent support for a diagnosis of FAS in both patients was obtained in an accent attribution experiment in which groups of native speakers of (Belgian) Dutch assessed the type of foreign accent of a sample of the patients’ conversational speech. Both patients were judged as non-native speakers of Dutch by the majority of participants who predominantly identified the accent as French.
Conclusion: This paper for the first time documents two patients who presented with FAS on a developmental basis. The finding that FAS does not only occur in the context of acquired brain damage or psychogenic illness but also exists as developmental motor speech impairment requires a re-definition of FAS as a clinical syndrome
Alzheimer Disease Biomarker Testing in Cerebrospinal Fluid: A Method to Harmonize Assay Platforms in the Absence of an Absolute Reference Standard
On the stability of periodic orbits in delay equations with large delay
We prove a necessary and sufficient criterion for the exponential stability
of periodic solutions of delay differential equations with large delay. We show
that for sufficiently large delay the Floquet spectrum near criticality is
characterized by a set of curves, which we call asymptotic continuous spectrum,
that is independent on the delay.Comment: postprint versio
Optimum ground states for spin- chains
We present a set of {\em optimum ground states} for a large class of
spin- chains. Such global ground states are simultaneously ground
states of the local Hamiltonian, i.e. the nearest neighbour interaction in the
present case. They are constructed in the form of a matrix product. We find
three types of phases, namely a {\em weak antiferromagnet}, a {\em weak
ferromagnet}, and a {\em dimerized antiferromagnet}. The main physical
properties of these phases are calculated exactly by using a transfer matrix
technique, in particular magnetization and two spin correlations. Depending on
the model parameters, they show a surprisingly rich structure.Comment: LaTeX, 22 pages, 6 embedded Postscript figure
DelayAndPeriodicity
Systems with time delay play an important role in modeling of many physical
and biological processes. In this paper we describe generic properties of
systems with time delay, which are related to the appearance and stability of
periodic solutions. In particular, we show that delay systems generically have
families of periodic solutions, which are reappearing for infinitely many delay
times. As delay increases, the solution families overlap leading to increasing
coexistence of multiple stable as well as unstable solutions. We also consider
stability issue of periodic solutions with large delay by explaining asymptotic
properties of the spectrum of characteristic multipliers. We show that the
spectrum of multipliers can be splitted into two parts: pseudo-continuous and
strongly unstable. The pseudo-continuous part of the spectrum mediates
destabilization of periodic solutions.Comment: 24 pages, 9 figure
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Disrupted auto-activation, dysexecutive and confabulating syndrome following bilateral thalamic and right putaminal stroke
Objective: Clinical, neuropsychological, structural and functional neuroimaging results are reported in a patient who developed a unique combination of symptoms after a bi-thalamic and right putaminal stroke. The symptoms consisted of dysexecutive disturbances associated with confabulating behavior and auto-activation deficits.
Background: Basal ganglia and thalamic lesions may result in a variety of motor, sensory, neuropsychological and behavioral syndromes. However, the combination of a dysexecutive syndrome complicated at the behavioral level with an auto-activation and confabulatory syndrome has never been reported.
Methods: Besides clinical and neuroradiological investigations, an extensive set of standardized neuropsychological tests was carried out.
Results: In the post-acute phase of the stroke, a dysexecutive syndrome was found in association with confabulating behavior and auto-activation deficits. MRI showed focal destruction of both thalami and the right putamen. Quantified ECD SPECT revealed bilateral hypoperfusions in the basal ganglia and thalamus but no perfusion deficits were found at the cortical level.
Conclusion: The combination of disrupted auto-activation, dysexecutive and confabulating syndrome in a single patient following isolated subcortical damage renders this case exceptional. Although these findings do not reveal a functional disruption of the striato-ventral pallidal-thalamic-frontomesial limbic circuitry, they add to the understanding of the functional role of the basal ganglia in cognitive and behavioral syndromes
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Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis and FTD
OBJECTIVE: To investigate the molecular basis of a Belgian family with autosomal recessive adult-onset neuronal ceroid lipofuscinosis (ANCL or Kufs disease [KD]) with pronounced frontal lobe involvement and to expand the findings to a cohort of unrelated Belgian patients with frontotemporal dementia (FTD).
METHODS: Genetic screening in the ANCL family and FTD cohort (n = 461) was performed using exome sequencing and targeted massive parallel resequencing.
RESULTS: We identified a homozygous mutation (p.Ile404Thr) in the Cathepsin F (CTSF) gene cosegregating in the ANCL family. No other mutations were found that could explain the disease in this family. All 4 affected sibs developed motor symptoms and early-onset dementia with prominent frontal features. Two of them evolved to akinetic mutism. Disease presentation showed marked phenotypic variation with the onset ranging from 26 to 50 years. Myoclonic epilepsy in one of the sibs was suggestive for KD type A, while epilepsy was not present in the other sibs who presented with clinical features of KD type B. In a Belgian cohort of unrelated patients with FTD, the same heterozygous p.Arg245His mutation was identified in 2 patients who shared a common haplotype.
CONCLUSIONS: A homozygous CTSF mutation was identified in a recessive ANCL pedigree. In contrast to the previous associations of CTSF with KD type B, our findings suggest that CTSF genetic testing should also be considered in patients with KD type A as well as in early-onset dementia with prominent frontal lobe and motor symptoms
Use of fuzzy edge single-photon emission computed tomography analysis in definite Alzheimer's disease - a retrospective study
<p>Abstract</p> <p>Background</p> <p>Definite Alzheimer's disease (AD) requires neuropathological confirmation. Single-photon emission computed tomography (SPECT) may enhance diagnostic accuracy, but due to restricted sensitivity and specificity, the role of SPECT is largely limited with regard to this purpose.</p> <p>Methods</p> <p>We propose a new method of SPECT data analysis. The method is based on a combination of parietal lobe selection (as regions-of-interest (ROI)), 3D fuzzy edge detection, and 3D watershed transformation. We applied the algorithm to three-dimensional SPECT images of human brains and compared the number of watershed regions inside the ROI between AD patients and controls. The Student's two-sample t-test was used for testing domain number equity in both groups.</p> <p>Results</p> <p>AD patients had a significantly reduced number of watershed regions compared to controls (<it>p </it>< 0.01). A sensitivity of 94.1% and specificity of 80% was obtained with a threshold value of 57.11 for the watershed domain number. The narrowing of the SPECT analysis to parietal regions leads to a substantial increase in both sensitivity and specificity.</p> <p>Conclusions</p> <p>Our non-invasive, relatively low-cost, and easy method can contribute to a more precise diagnosis of AD.</p
The EMIF-AD Multimodal Biomarker Discovery study: design, methods and cohort characteristics.
There is an urgent need for novel, noninvasive biomarkers to diagnose Alzheimer's disease (AD) in the predementia stages and to predict the rate of decline. Therefore, we set up the European Medical Information Framework for Alzheimer's Disease Multimodal Biomarker Discovery (EMIF-AD MBD) study. In this report we describe the design of the study, the methods used and the characteristics of the participants.
Participants were selected from existing prospective multicenter and single-center European studies. Inclusion criteria were having normal cognition (NC) or a diagnosis of mild cognitive impairment (MCI) or AD-type dementia at baseline, age above 50 years, known amyloid-beta (Aβ) status, availability of cognitive test results and at least two of the following materials: plasma, DNA, magnetic resonance imaging (MRI) or cerebrospinal fluid (CSF). Targeted and untargeted metabolomic and proteomic analyses were performed in plasma, and targeted and untargeted proteomics were performed in CSF. Genome-wide SNP genotyping, next-generation sequencing and methylation profiling were conducted in DNA. Visual rating and volumetric measures were assessed on MRI. Baseline characteristics were analyzed using ANOVA or chi-square, rate of decline analyzed by linear mixed modeling.
We included 1221 individuals (NC n = 492, MCI n = 527, AD-type dementia n = 202) with a mean age of 67.9 (SD 8.3) years. The percentage Aβ+ was 26% in the NC, 58% in the MCI, and 87% in the AD-type dementia groups. Plasma samples were available for 1189 (97%) subjects, DNA samples for 929 (76%) subjects, MRI scans for 862 (71%) subjects and CSF samples for 767 (63%) subjects. For 759 (62%) individuals, clinical follow-up data were available. In each diagnostic group, the APOE ε4 allele was more frequent amongst Aβ+ individuals (p < 0.001). Only in MCI was there a difference in baseline Mini Mental State Examination (MMSE) score between the A groups (p < 0.001). Aβ+ had a faster rate of decline on the MMSE during follow-up in the NC (p < 0.001) and MCI (p < 0.001) groups.
The characteristics of this large cohort of elderly subjects at various cognitive stages confirm the central roles of Aβ and APOE ε4 in AD pathogenesis. The results of the multimodal analyses will provide new insights into underlying mechanisms and facilitate the discovery of new diagnostic and prognostic AD biomarkers. All researchers can apply for access to the EMIF-AD MBD data by submitting a research proposal via the EMIF-AD Catalog
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