| 21. |
|
|
| 22. |
- Spotorno, Nicola, et al.
(författare)
-
Plasma neurofilament light protein correlates with diffusion tensor imaging metrics in frontotemporal dementia
- 2020
-
Ingår i: Plos One. - : Public Library of Science (PLoS). - 1932-6203. ; 15:10
-
Tidskriftsartikel (refereegranskat)abstract
- Neurofilaments are structural components of neurons and are particularly abundant in highly myelinated axons. The levels of neurofilament light chain (NfL) in both cerebrospinal fluid (CSF) and plasma have been related to degeneration in several neurodegenerative conditions including frontotemporal dementia (FTD) and NfL is currently considered as the most promising diagnostic and prognostic fluid biomarker in FTD. Although the location and function of filaments in the healthy nervous system suggests a link between increased NfL and white matter degeneration, such a claim has not been fully elucidated in vivo, especially in the context of FTD. The present study provides evidence of an association between the plasma levels of NfL and white matter involvement in behavioral variant FTD (bvFTD) by relating plasma concentration of NfL to diffusion tensor imaging (DTI) metrics in a group of 20 bvFTD patients. The results of both voxel-wise and tract specific analysis showed that increased plasma NfL concentration is associated with a reduction in fractional anisotropy (FA) in a widespread set of white matter tracts including the superior longitudinal fasciculus, the fronto-occipital fasciculus the anterior thalamic radiation and the dorsal cingulum bundle. Plasma NfL concentration also correlated with cortical thinning in a portion of the right medial prefrontal cortex and of the right lateral orbitofrontal cortex. These results support the hypothesis that blood NfL levels reflect the global level of neurodegeneration in bvFTD and help to advance our understanding of the association between this blood biomarker for FTD and the disease process.
|
|
| 23. |
- Tiselius, Elisabet, 1967-, et al.
(författare)
-
Turn-taking in dialogue interpreting : Coping with cognitive constraints
- 2021
-
Ingår i: Cognitive Linguistic Studies. - : John Benjamins Publishing Company. - 2213-8722 .- 2213-8730. ; 8:2, s. 328-355
-
Tidskriftsartikel (refereegranskat)abstract
- This study addresses cognitive aspects of turn-taking and the role of experience in dialogue interpreting, by investigating the temporal and textual properties of the coupled turn (i.e. the original utterance and its interpretation). A comparison was made using a video-recorded scripted role-play between eight interpreters, with Swedish-French or Swedish-Spanish as working languages and with different levels of experience. Cognitively challenging long stretches of talk were introduced in both directions of the working languages and analyzed with a multi-modal approach. We identified a number of quantitative measures, such as the number of coupled turns and the time used. Furthermore, we qualitatively analyzed the types of renditions. The findings suggest that the mean length of time of the coupled turn, which we label processing span, is a measure that is not primarily related to interpreting experience but rather reflects the constraints of the interpreter’s working memory. A further finding is that the inexperienced interpreters have a higher percentage of reduced renditions than the experienced interpreters, and this difference is statistically significant.
|
|
| 24. |
- Wittke, Christina, et al.
(författare)
-
Genotype–Phenotype Relations for the Atypical Parkinsonism Genes : MDSGene Systematic Review
- 2021
-
Ingår i: Movement Disorders. - : Wiley. - 0885-3185 .- 1531-8257. ; 36:7, s. 1499-1510
-
Forskningsöversikt (refereegranskat)abstract
- This Movement Disorder Society Genetic mutation database Systematic Review focuses on monogenic atypical parkinsonism with mutations in the ATP13A2, DCTN1, DNAJC6, FBXO7, SYNJ1, and VPS13C genes. We screened 673 citations and extracted genotypic and phenotypic data for 140 patients (73 families) from 77 publications. In an exploratory fashion, we applied an automated classification procedure via an ensemble of bootstrap-aggregated (“bagged”) decision trees to distinguish these 6 forms of monogenic atypical parkinsonism and found a high accuracy of 86.5% (95%CI, 86.3%–86.7%) based on the following 10 clinical variables: age at onset, spasticity and pyramidal signs, hypoventilation, decreased body weight, minimyoclonus, vertical gaze palsy, autonomic symptoms, other nonmotor symptoms, levodopa response quantification, and cognitive decline. Comparing monogenic atypical with monogenic typical parkinsonism using 2063 data sets from Movement Disorder Society Genetic mutation database on patients with SNCA, LRRK2, VPS35, Parkin, PINK1, and DJ-1 mutations, the age at onset was earlier in monogenic atypical parkinsonism (24 vs 40 years; P = 1.2647 × 10−12) and levodopa response less favorable than in patients with monogenic typical presentations (49% vs 93%). In addition, we compared monogenic to nonmonogenic atypical parkinsonism using data from 362 patients with progressive supranuclear gaze palsy, corticobasal degeneration, multiple system atrophy, or frontotemporal lobar degeneration. Although these conditions share many clinical features with the monogenic atypical forms, they can typically be distinguished based on their later median age at onset (64 years; IQR, 57–70 years). In conclusion, age at onset, presence of specific signs, and degree of levodopa response inform differential diagnostic considerations and genetic testing indications in atypical forms of parkinsonism.
|
|
| 25. |
- Zampeli, Ariadne, et al.
(författare)
-
Structural association between heterotopia and cortical lesions visualised with 7 T MRI in patients with focal epilepsy
- 2022
-
Ingår i: Seizure-European Journal of Epilepsy. - : Elsevier BV. - 1059-1311 .- 1532-2688. ; 101, s. 177-183
-
Tidskriftsartikel (refereegranskat)abstract
- Purpose: To analyze structural characteristics of malformations of cortical development (MCD) at 7T and 3T MRI. Methods: Twenty-five patients were examined with a 7T MRI-scanner in addition to 3T examinations performed for epilepsy evaluation. 7T sequences included a 3D-T1-weighted (T1w) MPRAGE, 3D-T2w FLAIR, and heavily T2w axial and coronal high-resolution (0.5 x 0.5 x 0.75-1.0 mm3) 2D-TSE sequences. Images were reviewed for 7T MRI imaging characteristics of MCD, visibility and frequency of identified lesions on 7T and on 3T (original reports and second reading). Results: In 25 patients 112 lesions were identified (57 gray matter (GM) heterotopia, 37 focal cortical dysplasia (FCD), and 18 other MCD). Imaging characteristics of the 37 FCD were cortical thickening (n = 11); GM-WM border blurring (n = 30); GM signal intensity changes (n = 18); juxtacortical WM signal intensity changes (n = 18); and transmantle WM signal intensity changes (n = 11). None of the 7T MRI sequences was sufficient to detect all types of lesions. Heterotopia were in general isointense to normal GM. Structural associations between 36 heterotopia and overlaying cortex were observed, composed either of a direct connection, vessel-like struc-tures, or GM-like bridges. FCD were mentioned in 30% (11 of 37) of the original reports at 3T, and in 57% (21 of 37) after second reading. FCD connections to subcortical heterotopia were clinically not reported at all. Conclusion: 7T MRI revealed subtle connections between heterotopia and previous unidentified pathology in overlaying cortex. These findings may be significant for the understanding of the anatomical seizure origin and propagation pathways.
|
|
