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Tidsskrift For Den Norske Laegeforening... Nov 2023Neurological disorders can present with a vast array of visual disturbances. The constellation of symptoms and findings in this patient prompted workup for unusual...
BACKGROUND
Neurological disorders can present with a vast array of visual disturbances. The constellation of symptoms and findings in this patient prompted workup for unusual causes of both stroke and neurodegenerative disorder.
CASE PRESENTATION
A woman in her sixties presented with visual disturbances, followed by weakness in her right arm and aphasia three days later. Her close acquaintances had suspected progressive cognitive decline during the previous year. CT and MRI showed an occluded left posterior cerebral artery with a subacute occipito-temporal infarction. The finding of extensive white matter lesions and segmental arterial vasoconstriction necessitated further workup of vasculitis and hereditary small vessel disease, which were ruled out. The stroke aetiology was considered to be atherosclerotic intracranial large vessel disease. FDG-PET scan revealed decreased metabolism in the left hemisphere, and cerebrospinal biomarkers had slightly decreased beta-amyloid. The findings were suggestive of early Alzheimer's disease or primary progressive aphasia, but currently inconclusive.
INTERPRETATION
Based on clinical-anatomical correlation, the patient's visual disturbances, in this case right hemianopsia and object agnosia, were solely related to the stroke and not to a neurodegenerative disorder. Knowledge and interpretation of visual agnosias can in many cases be clinically valuable.
Topics: Female; Humans; Agnosia; Magnetic Resonance Imaging; Neurodegenerative Diseases; Positron-Emission Tomography; Stroke; Vision Disorders; Aged
PubMed: 37938009
DOI: 10.4045/tidsskr.23.0198 -
Neuropsychologia Oct 2023Despite 25 years of research on the topic, there is still no consensus on whether prism adaptation is an effective therapy for visuospatial neglect. We have addressed... (Meta-Analysis)
Meta-Analysis Review
Despite 25 years of research on the topic, there is still no consensus on whether prism adaptation is an effective therapy for visuospatial neglect. We have addressed this question through a meta-analysis of the most well-controlled studies on the topic. Our main meta-analytic model included studies with a placebo/sham/treatment-as-usual control group from which data from right hemisphere stroke patients and left-sided neglect could be aggregated. The short-term treatment effects on the two commonly used standard tests for neglect, the conventional Behavioural Inattention Test (BIT-C) and cancellation test scores were combined into one random effect model justified by the fact that 89% of the BIT-C score is determined by cancellation tasks. With this approach, we were able to obtain a larger and more homogeneous dataset than previous meta-analyses: sixteen studies including 430 patients. No evidence for beneficial effects of prism adaptation was found. The secondary meta-analysis including data from the Catherine Bergego Scale, a functional measure of activities of daily living, also found no evidence for the therapeutic effects of prism adaptation, although half as many studies were available for this analysis. The results were consistent after the removal of influential outliers, after studies with high risk-of-bias were excluded, and when an alternative measure of effect size was considered. These results do not support the routine use of prism adaptation as a therapy for spatial neglect.
Topics: Humans; Activities of Daily Living; Adaptation, Physiological; Perceptual Disorders; Stroke; Agnosia
PubMed: 37149126
DOI: 10.1016/j.neuropsychologia.2023.108566 -
Neurology Nov 2023Chromosome 9 open reading frame 72 () gene pathogenic variants have been typically associated with frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS),...
Chromosome 9 open reading frame 72 () gene pathogenic variants have been typically associated with frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), but recent studies suggest their involvement in other disorders. This report describes a family with an autosomal dominant pattern of inheritance of progressive verbal auditory agnosia due to GGGGCC repeat expansion in C9orf72. A 60-year-old right-handed male truck driver presented with slowly progressive poor speech perception for 8 years, which became most troublesome when receiving verbal orders over the phone. He had difficulty recognizing single-syllable spoken words beyond his hearing loss but had no problem understanding complex written language. He had a heterozygous pathogenic variant carrying 160 hexanucleotide repeats in the C9orf72 gene. His family history included his deceased mother with similar symptoms that had progressed over 30 years, as well as his older brother and youngest sister who experienced speech perception difficulty beginning in their early fifties. His asymptomatic younger brother had a heterozygous 2 repeat in the C9orf72 gene, while his symptomatic youngest sister had a heterozygous 159 repeat. The patient and his sister exhibited more pronounced cortical thinning in the frontotemporoparietal areas. The discrepancy observed between the distribution of atrophy and the presentation of symptoms in patients with C9orf72 pathogenic repeat expansion may be attributable to the slow progression of their clinical course over time. The variable symptom presentation of C9orf72 pathogenic repeat expansion highlights the importance of considering this pathogenic variant as a potential cause of autosomal dominant degenerative brain diseases beyond FTD and ALS.
Topics: Humans; Male; Middle Aged; Frontotemporal Dementia; Amyotrophic Lateral Sclerosis; C9orf72 Protein; Proteins; DNA Repeat Expansion; Pick Disease of the Brain
PubMed: 37648532
DOI: 10.1212/WNL.0000000000207832 -
Frontiers in Neurology 2023Loss of time is a major obstacle to efficient stroke treatment. Our telestroke path intends to optimize prehospital triage using a video link connecting ambulance...
Real-time video analysis allows the identification of large vessel occlusion in patients with suspected stroke: feasibility trial of a "telestroke" pathway in Northwestern Switzerland.
BACKGROUND AND AIM
Loss of time is a major obstacle to efficient stroke treatment. Our telestroke path intends to optimize prehospital triage using a video link connecting ambulance personnel and a stroke physician. The objectives were as follows: (1) To identify patients suffering a stroke and (2) in particular large vessel occlusion (LVO) strokes as candidates for endovascular treatment. We have chosen the Rapid Arterial Occlusion Evaluation (RACE) scale for this purpose.
METHODS
This analysis aimed to verify the feasibility of prehospital stroke identification by video assessment. In this prospective telestroke cohort study, we included 97 subjects, in which the RACE score (items: facial palsy, arm and leg motor function, head and gaze deviation, and aphasia or agnosia) was applied, and the assessment videotaped by a trained member of the Emergency Medical Services (EMS) in the field using a mobile device. Each recorded patient video was independently assessed by three experienced stroke physicians from a certified stroke center and compared to the neuroimaging gold standard. Within this feasibility study, the stroke code was not altered by the outcome of the RACE assessment, and all patients underwent the standard procedures within the emergency unit.
RESULTS
We analyzed 97 patients (median age 78 years, 53% women), of whom 51 (52.6%) suffered an acute stroke, 12 (23.5%) of which were due to an LVO and 46 patients had symptoms mimicking a stroke. The sensitivity of stroke identification was 77.8%, and specificity was 53.6%. In regard to the identification of an LVO, sensitivity was 69.4% and specificity was 84.3%. The inter-rater agreement in the RACE-score assessment was ICC = 0.82 (intraclass-correlation coefficient).
CONCLUSION
These results confirm our hypothesis that the local telestroke concept is feasible. It allows correct (i) stroke and (ii) LVO identification in the majority of the cases and thus has the potential to assist in efficient prehospital triage.
PubMed: 37941577
DOI: 10.3389/fneur.2023.1232401 -
The International Tinnitus Journal Mar 2024Deep functional and structural neuroimaging of a series of Gerstmann's syndrome patients required high accuracy, and our results avoided false overlaps of heterogeneous...
Deep functional and structural neuroimaging of a series of Gerstmann's syndrome patients required high accuracy, and our results avoided false overlaps of heterogeneous brain lesions by handling each case of our study subjects separately as an individual case regarding functional and neuroimaging tests. Six patients with Gerstmann tetrad (one with dominant acalculia, one with dominant left and right disorientation, two with writing disabilities and two with finger agnosia) and 6 control subjects with close ages were recruited in the current study. In the main phase, we assessed brain activation in response to experimental and interventional settings using neuroimaging techniques (FMRI-Functional Magnetic Resonance Imagingwhere twelve pictures were taken on a Dell inspiration 3T all-body scanner with sequences of echo pictures, 80o angled, TE 35 ms) of the subject's brain to declare lesions existence and locations that might result in one of the four cognitive impairment domains of Gerstman's syndrome tetrad. We assessed statistically significant differences of patient images vs. control images as well as the images of patients presenting specific symptomatic cognitive dysfunction domain vs. the images of patients presenting the three other domains. Neuroimages were analyzed using multiple databases such as T1 weighted and free sequence types. Gerstmann's syndrome is mainly connected to injury in the dominant parietal lobe, so images comparisons and analysis were only restricted to the left parietal lobe region. P values <0.05were only considered as statistically significant difference in comparisons of functional tests time and accuracy of patients vs. in addition to comparisons of brain images parameters of patient group vs. control group and specific symptomatic domain patients vs. other symptomatic domains patients. Regarding functional testing, Patients group took significantly higher time compared to control group. Regarding brain images parameters, patients in each domain showed significantly different lesions compared to other domains. Moreover, control subjects showed no lesions in the left parietal lobe compared to significant lesions in the patient groups. These results oppose the theory of Gerstmann that a common brain structural injury may result in the combination of all of the four symptomatic dysfunction domains. This may be due to the fact that Gerstmann examined incomplete cases which represent a considerable criticism to his scientific basis. Moreover, he excluded patients with speech difficulties and apraxia.
Topics: Male; Humans; Gerstmann Syndrome; Case-Control Studies; Brain; Magnetic Resonance Imaging; Speech Disorders
PubMed: 38507641
DOI: 10.5935/0946-5448.20230038 -
Cortex; a Journal Devoted To the Study... Mar 2024Despite severe everyday problems recognising faces, some individuals with developmental prosopagnosia (DP) can achieve typical accuracy scores on laboratory face...
Despite severe everyday problems recognising faces, some individuals with developmental prosopagnosia (DP) can achieve typical accuracy scores on laboratory face recognition tests. To address this, studies sometimes also examine response times (RTs), which tend to be longer in DPs relative to control participants. In the present study, 24 potential (according to self-report) DPs and 110 age-matched controls completed the Cambridge Face and Bicycle Memory Tests, old new faces task, and a famous faces test. We used accuracy and the Balanced Integration Score (BIS), a measure that adjusts accuracy for RTs, to classify our sample at the group and individual levels. Subjective face recognition ability was assessed using the PI20 questionnaire and semi structured interviews. Fifteen DPs showed a major impairment using BIS compared with only five using accuracy alone. Logistic regression showed that a model incorporating the BIS measures was the most sensitive for classifying DP and showed highest area under the curve (AUC). Furthermore, larger between-group effect sizes were observed for a derived global (averaged) memory measure calculated using BIS versus accuracy alone. BIS is thus an extremely sensitive novel measure for attenuating speed-accuracy trade-offs that can otherwise mask impairment measured only by accuracy in DP.
Topics: Humans; Prosopagnosia; Facial Recognition; Self Report; Surveys and Questionnaires; Reaction Time; Pattern Recognition, Visual
PubMed: 38330779
DOI: 10.1016/j.cortex.2023.12.011 -
BMC Neurology Jul 2023Creutzfeldt-Jakob disease (CJD), is a deadly degenerative condition of the central nervous system marked by rapidly progressive dementia. Magnetic resonance imaging...
BACKGROUND
Creutzfeldt-Jakob disease (CJD), is a deadly degenerative condition of the central nervous system marked by rapidly progressive dementia. Magnetic resonance imaging (MRI) abnormalities in the cerebral cortex, basal ganglia, thalamus, and cerebellum could indicate severe acute diseases caused by a variety of factors. Although their MRI patterns may resemble those of CJD, clinical history, additional MRI findings, and laboratory testing are all necessary to provide a reliable difference. Here, we report a misdiagnosed case of probable VV1 subtype of sporadic CJD (sCJD) in which follow-up MRI supported the diagnosis.
CASE PRESENTATION
A 41-year-old male patient attended the Neuropsychiatry Department with rapidly progressive dementia, akinetic mutism, and difficulty walking and speaking. His problem began with forgetfulness, disorganized behavior, and disorganized speech 7 months earlier which progressed rapidly and was accompanied by aphasia, apraxia, agnosia, and akinetic mutism in the last 2 months. On neurologic examination, hypertonia, hyperreflexia, frontal ataxia, bradykinesia, gait apraxia, and aphasia were noted. Based on clinical features and rapid symptoms progression the likely diagnosis of CJD was suspected. MRI and electroencephalography (EEG) were advised. MRI revealed features of diffuse cortical injury of both cerebral hemispheres also involving bilateral corpus striatum with evidence of cerebral volume loss. EEG showed lateralized periodic theta slow waves on the right side. According to the CDC's diagnostic criteria for CJD, the diagnosis of probable sCJD was established. Supportive care and symptomatic treatment are provided for the patient. After a 1-month follow up the patient's condition deteriorated significantly. The time-lapse from the first reported symptom to death was about 13 months.
CONCLUSION
The need of addressing CJD in patients presenting with rapidly progressive dementia is highlighted in this case report. In the early stages of the disease, interpretation of MRI results might cause diagnostic difficulties; therefore, follow-up MRI is critical in obtaining the correct diagnosis.
Topics: Male; Humans; Adult; Creutzfeldt-Jakob Syndrome; Akinetic Mutism; Magnetic Resonance Imaging; Electroencephalography; Diagnostic Errors
PubMed: 37464286
DOI: 10.1186/s12883-023-03318-z -
Movement Disorders Clinical Practice Mar 2024Frontal lobe signs in progressive supranuclear palsy (PSP) are prevalent and occur early in the disease. Although they are recognized in clinical practice, studies are...
BACKGROUND
Frontal lobe signs in progressive supranuclear palsy (PSP) are prevalent and occur early in the disease. Although they are recognized in clinical practice, studies are needed to systematically investigate them for an in-depth understanding of the neurological substrate and their potential prognostic implications in the disease.
OBJECTIVES
To study the predictive role of frontal lobe signs in PSP, as well as to describe their neuropsychological and anatomical correlations.
METHODS
Nine recognized signs of frontal lobe dysfunction were assessed in 61 patients with PSP. Those signs able to predict PSP Rating Scale (PSPRS) score at baseline were selected, a survival analysis was performed and associations with neuropsychological tests and cortical thickness parameters in brain MRI were studied.
RESULTS
Grasping, anosognosia and orobuccal apraxia predicted the PSPRS score independently of age, gender, clinical subtype and disease duration. The occurrence of groping in the first 4 years could be a predictor of survival. Grasping and anosognosia were associated with frontal cognitive dysfunction, whereas orobuccal apraxia and groping were related to a more widespread cognitive impairment, involving temporal-parietal areas. Presence of groping showed an extensive cortical atrophy, with predominant prefrontal, temporal and superior parietal cortical thinning.
CONCLUSIONS
Grasping, groping, anosognosia and orobuccal apraxia are easily evaluable bedside clinical signs that reflect distinct stages of disease progression. Grasping, anosognosia and orobuccal apraxia predict disease disability in patients with PSP, and early onset groping could be a survival predictor.
Topics: Humans; Supranuclear Palsy, Progressive; Frontal Lobe; Magnetic Resonance Imaging; Apraxias; Agnosia
PubMed: 38164060
DOI: 10.1002/mdc3.13958 -
Cortex; a Journal Devoted To the Study... Jul 2024Developmental prosopagnosia (DP) is associated with considerable perceptual heterogeneity, though the nature of this heterogeneity and whether there are discrete...
Developmental prosopagnosia (DP) is associated with considerable perceptual heterogeneity, though the nature of this heterogeneity and whether there are discrete subgroups versus continuous deficits remains unclear. Bennetts et al. (2022) recently found that holistic versus featural processing deficits distinguished discrete DP subgroups, but their sample was relatively small (N = 37), and subgroups were defined using a single task. To characterize perceptual heterogeneity in DPs more comprehensively, we administered a broad face perception battery to a large sample of 109 DPs and 134 controls, including validated measures of face matching (Cambridge Face Perception Test - CFPT, Computerized Benton Facial Recognition Test, Same/Different Face Matching Task), holistic processing (Part-Whole Task), and feature processing (Georges Task and Part-Whole part trials). When examining face matching measures, DPs exhibited a similar distribution of performance as controls, though shifted towards impairment by an average of 1.4 SD. We next applied Bennetts (2022) hierarchical clustering approach and k-means clustering to the CFPT upright, inverted, and inversion index measures, similarly finding one group of DPs with poorer inverted face performance and another with a decreased face inversion effect (holistic processing). However, these subgroup differences failed to generalize to other measures of feature and holistic processing beyond the CFPT. We finally ran hierarchical and k-means cluster analyses on our larger battery of face matching, feature, and holistic processing measures. Results clearly showed subgroups with generally better versus worse performance across all measures, with the distinction between groups being somewhat arbitrary. Together, these findings support a continuous account of DP perceptual heterogeneity, with performance differing primarily across all aspects of face perception.
Topics: Humans; Prosopagnosia; Female; Male; Adult; Facial Recognition; Middle Aged; Young Adult; Neuropsychological Tests; Recognition, Psychology; Pattern Recognition, Visual; Visual Perception; Adolescent
PubMed: 38744075
DOI: 10.1016/j.cortex.2024.03.011 -
Motor Control Apr 2024We review a body of literature related to the drawing and recognition of geometrical two-dimensional linear drawings including letters. Handwritten letters are viewed... (Review)
Review
We review a body of literature related to the drawing and recognition of geometrical two-dimensional linear drawings including letters. Handwritten letters are viewed not as two-dimensional geometrical objects but as one-dimensional trajectories of the tip of the implement. Handwritten letters are viewed as composed of a small set of kinematic primitives. Recognition of objects is mediated by processes of their creation (actual or imagined)-the imitation principle, a particular example of action-perception coupling. The concept of spatial directional field guiding the trajectories is introduced and linked to neuronal population vectors. Further, we link the kinematic description to the theory of control with spatial referent coordinates. This framework allows interpreting a number of experimental observations and clinical cases of agnosia. It also allows formulating predictions for new experimental studies of writing.
Topics: Humans; Reading; Imitative Behavior; Writing
PubMed: 38364817
DOI: 10.1123/mc.2023-0122