| 1. |
- Flensner, Gullvi, 1945-, et al.
(författare)
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Sensitivity to heat in MS patients : A factor strongly influencing symptomology - an explorative survey
- 2011
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Ingår i: BMC Neuroscience. - London : BioMed Central. - 1471-2202. ; 11:27
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Tidskriftsartikel (refereegranskat)abstract
- Background: Many individuals diagnosed with Multiple Sclerosis (MS) are sensitive to increased body temperature, which has been recognized as correlating with the symptom of fatigue. The need to explore this association has been highlighted. The aim of this study was to investigate the occurrence of heat sensitivity and its relations to disease course, disability, common MS-related symptoms and ongoing immunosuppressive treatments among individuals 65 years of age or younger diagnosed with MS.Methods: A cross-sectional designed survey was undertaken. A questionnaire was sent to MS-patients with an Expanded Disability Status Score (EDSS) in the interval of 0-6.5 and who were between 20 and 65 years of age, living in an eastern region of Sweden (n = 334). Besides occurrence of heat sensitivity (Yes/No) and corresponding questions, the Fatigue Severity Scale (FSS), the MS-related symptom checklist and the Perceived Deficit Questionnaire (PDQ) were included. Data were analysed in relation to data level using Chi-square, Mann Whitney U-test, and Student's t-test. Pearson's and Spearman's correlations were calculated. In the logistic regression analyses (enter) dichotomized MS-symptoms were used as dependent variables, and EDSS, disease-course, time since onset, heat-sensitivity, age and sex (female/male) were independent variables. In the linear regression analyses, enter, mean FSS and summarized PDQ were entered as dependent variables and EDSS, disease-course, time since onset, heat sensitivity, age and sex (female/male) were independent variables.Results: Of the responding patients (n = 256), 58% reported heat sensitivity. The regression analyses revealed heat sensitivity as a significant factor relating not only to fatigue (p < 0.001), but also to several other common MS symptoms such as pain (p < 0.001), concentration difficulties (p < 0.001), and urination urgency (p = 0.009).Conclusions: Heat sensitivity in MS patients is a key symptom that is highly correlated with disabling symptoms such as fatigue, pain, concentration difficulty and urination urgency. © 2011 Flensner et al; licensee BioMed Central Ltd.
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| 2. |
- Hedera, Peter, et al.
(författare)
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Novel PRRT2 mutation in an African-American family with paroxysmal kinesigenic dyskinesia
- 2012
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Ingår i: BMC Neurology. - : Springer Science and Business Media LLC. - 1471-2377. ; 12:93
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Tidskriftsartikel (refereegranskat)abstract
- Background: Recently, heterozygous mutations in PRRT2 (Chr 16p11.2) have been identified in Han Chinese, Japanese and Caucasians with paroxysmal kinesigenic dyskinesia. In previous work, a paroxysmal kinesigenic dyskinesia locus was mapped to Chr 16p11.2 - q11.2 in a multiplex African-American family. Methods: Sanger sequencing was used to analyze all four PRRT2 exons for sequence variants in 13 probands (9 Caucasian, 1 Caucasian-Thai, 1 Vietnamese and 2 African-American) with some form of paroxysmal dyskinesia. Results: One patient of mixed Caucasian-Thai background and one African-American family harbored the previously described hotspot mutation in PRRT2 (c.649dupC, p.R217Pfs*8). Another African-American family was found to have a novel mutation (c.776dupG, p.E260*). Both of these variants are likely to cause loss-of-function via nonsense-mediated decay of mutant PRRT2 transcripts. All affected individuals had classic paroxysmal kinesigenic dyskinesia phenotypes. Conclusions: Heterozygous PRRT2 gene mutations also cause paroxysmal kinesigenic dyskinesia in African-Americans. The c.649dupC hotspot mutation in PRRT2 is common across racial groups.
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| 3. |
- Hertze, Joakim, et al.
(författare)
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Changes in cerebrospinal fluid and blood plasma levels of IGF-II and its binding proteins in Alzheimer's disease : an observational study
- 2014
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Ingår i: BMC Neurology. - : BioMed Central. - 1471-2377. ; 14
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: The Insulin-like Growth Factor (IGF)-related system is implicated in neuroregeneration and cell repair, as well as regulating lifespan. IGF-II, one component of this system, has also been found to affect memory functions in a rat model. In this study we explored changes in the IGF-related system in patients with Alzheimer's disease (AD), including changes in IGF-II levels.METHODS: We measured blood plasma and cerebrospinal fluid (CSF) levels of IGF-I, IGF-II, IGFBP-2 and IGFBP-3 in 72 healthy controls and 92 patients with AD.RESULTS: We found significantly lower blood plasma levels of IGF-II and IGFBP-3 in patients with AD, compared with controls. The levels of IGF-II and IGFBP-2 were significantly elevated in the CSF from patients with AD. We also found correlations between established CSF biomarkers for AD (tau and P-tau) and components of the IGF system.CONCLUSIONS: CSF and blood plasma levels of IGF-II and some of its binding proteins are changed in patients with AD. Further investigation into this area may unravel important clues to the nature of this disease.
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| 4. |
- Jepsen, JR, et al.
(författare)
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Diagnostic accuracy of the neurological upper limb examination II: Relation to symptoms of patterns of findings
- 2006
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Ingår i: BMC Neurology. - : Springer Science and Business Media LLC. - 1471-2377. ; 6
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Tidskriftsartikel (refereegranskat)abstract
- Background: In a sample of patients in clinical occupational medicine we have demonstrated that an upper limb neurological examination can reliably identify patterns of findings suggesting upper limb focal neuropathies. This further study aimed at approaching the diagnostic accuracy of the examination. Methods: 82 limbs were semi-quantitatively assessed by two blinded examiners ( strength in 14 individual muscles, sensibility in 7 homonymous territories, and mechanosensitivity at 10 locations along nerves). Based on the topography of nerves and their muscular and sensory innervation we defined 10 neurological patterns each suggesting a localized nerve affliction. Information on complaints ( pain, weakness and/or numbness/tingling) collected by others served as a reference for comparison. The relation between the presence of pattern(s) and complaints was assessed by kappa-statistics. Sensitivity, specificity, and positive/negative predictive values were calculated, and pretest odds were compared to post-test probability. Results: The two examiners identified pattern( s) suggesting focal neuropathy in 34/36 out of 38 symptomatic limbs, respectively (kappa = 0.70/0.75), with agreement in 28 limbs. Out of 44 non-symptomatic limbs the examiners agreed on absence of any pattern in 38 limbs. With concordance between the examiners with regard to the presence or absence of any pattern, the sensitivity, specificity, positive and negative predictive values were 0.73, 0.86, 0.93 and 0.90, respectively. While the pre-test odds for a limb to be symptomatic amounted to 0.46 the post-test probability was 0.81. For each examiner the post-test probability was 0.87 and 0.88, respectively. Conclusion: The improved diagnostic confidence is an indication of one aspect of construct validity of the physical examination. For determination of clinical feasibility of the examination further studies are required, most importantly 1) studies of validity by means of comparison with additional references and 2) studies of the potential benefit that can be attained from its use.
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| 5. |
- Jönsson, Henrik, et al.
(författare)
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Controversial significance of early S100B levels after cardiac surgery
- 2004
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Ingår i: BMC Neurology. - : Springer Science and Business Media LLC. - 1471-2377. ; 4:1
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Tidskriftsartikel (refereegranskat)abstract
- BackgroundThe brain-derived protein S100B has been shown to be a useful marker of brain injury of different etiologies. Cognitive dysfunction after cardiac surgery using cardiopulmonary bypass has been reported to occur in up to 70% of patients. In this study we tried to evaluate S100B as a marker for cognitive dysfunction after coronary bypass surgery with cardiopulmonary bypass in a model where the inflow of S100B from shed mediastinal blood was corrected for.Methods56 patients scheduled for coronary artery bypass grafting underwent prospective neuropsychological testing. The test scores were standardized and an impairment index was constructed. S100B was sampled at the end of surgery, hourly for the first 6 hours, and then 8, 10, 15, 24 and 48 hours after surgery. None of the patients received autotransfusion.ResultsIn simple linear analysis, no significant relation was found between S100B levels and neuropsychological outcome. In a backwards stepwise regression analysis the three variables, S100B levels at the end of cardiopulmonary bypass, S100B levels 1 hour later and the age of the patients were found to explain part of the neuropsychological deterioration (r = 0.49, p < 0.005).ConclusionsIn this study we found that S100B levels 1 hour after surgery seem to be the most informative. Our attempt to control the increased levels of S100B caused by contamination from the surgical field did not yield different results. We conclude that the clinical value of S100B as a predictive measurement of postoperative cognitive dysfunction after cardiac surgery is limited.
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| 6. |
- Kvickstrom, Pia, et al.
(författare)
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Selective frontal neurodegeneration of the inferior fronto-occipital fasciculus in progressive supranuclear palsy (PSP) demonstrated by diffusion tensor tractography
- 2011
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Ingår i: BMC Neurology. - : Springer Science and Business Media LLC. - 1471-2377. ; 11
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Tidskriftsartikel (refereegranskat)abstract
- Background: The clinical presentation in progressive supranuclear palsy (PSP), an atypical parkinsonian disorder, includes varying degrees of frontal dysexecutive symptoms. Using diffusion tensor imaging (DTI) and tractography (DTT), we investigated whether diffusion changes and atrophy of the inferior fronto-occipital fasciculus (IFO) occurs in PSP and if these changes correlate with disease stage and clinical phenotype. The corticospinal tract (CST), which is often involved in PSP, was investigated for comparison. Methods: DTI of the whole brain was performed with a 3 T MR scanner using a single shot-EPI sequence with diffusion encoding in 48 directions. Scans were obtained in patients with PSP (n = 13) and healthy age-matched controls (n = 12). DTT of the IFO and CST was performed with the PRIDE fibre tracking tool (Philips Medical System). Fractional anisotropy (FA) and apparent diffusion coefficient (ADC) were calculated and correlated with disease stage and clinical phenotype. Results: In patients with PSP, significantly decreased FA and increased ADC was found in the frontal part of IFO compared with the medial and occipital parts of IFO, as well as compared to controls. Four of the thirteen patients with PSP showed a marked decrease in the number of tracked voxels in the frontal part of IFO. These findings were most pronounced in patients with severe frontal cognitive symptoms, such as dysexecutive problems, apathy and personality change. There was a strong correlation (r(2) = -0.84; p < 0,001) between disease stage and FA and ADC values in the CST. Conclusions: DTT for identification of neuronal tracts with subsequent measurement of FA and ADC is a useful diagnostic tool for demonstrating patterns of neuronal tract involvement in neurodegenerative disease. In selected tracts, FA and ADC values might act as surrogate markers for disease stage.
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| 7. |
- Landqvist, Maria, et al.
(författare)
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Cerebrospinal fluid neurofilament light chain protein levels in subtypes of frontotemporal dementia
- 2013
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Ingår i: BMC Neurology. - : Springer Science and Business Media LLC. - 1471-2377. ; 13
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Tidskriftsartikel (refereegranskat)abstract
- Background: Frontotemporal dementia (FTD) is recognised as a clinically and morphologically heterogeneous group of interrelated neurodegenerative conditions. One of the subtypes within this disease spectrum is the behavioural variant FTD (bvFTD). This is known to be a varied disorder with a mixture of tau-positive and tau-negative underlying pathologies. The other subtypes include semantic dementia (SD), which generally exhibits tau-negative pathology, and progressive non-fluent aphasia (PNFA), which is usually tau-positive. As the clinical presentation of these subtypes may overlap, a specific diagnosis can be difficult to attain and today no specific biomarker can predict the underlying pathology. Neurofilament light chain protein (NFL), a cytoskeletal constituent of intermediate filaments, is thought to reflect neuronal and axonal death when appearing in the cerebrospinal fluid (CSF). NFL has been shown to be elevated in CSF in patients with FTD compared with AD and controls. Our hypothesis was that the levels of NFL also differ between the subtypes of FTD and may indicate the underlying pathological subtype. Methods: We retrospectively analysed data from previous CSF analyses in 34 FTD cases (23 bvFTD, seven SD, four PNFA), 20 AD cases, and 26 healthy controls. A separate group of 10 neuropathologically verified and subtyped FTD cases (seven tau-negative, three tau-positive) were also analysed. Result: NFL levels were significantly higher in FTD compared with both AD (p<0.001) and controls (p<0.001). The NFL levels of SD and bvFTD were significantly higher (p<0.001) compared with AD. The biomarker profiles of PNFA and AD were similar. In the neuropathologically verified FTD cases, NFL was higher in the tau-negative than in the tau-positive cases (exact p=0.017). Conclusions: The marked NFL elevation in some but not all FTD cases is likely to reflect the different underlying pathologies. The highest NFL values found in the SD group as well as in the neuropathologically verified tau-negative cases may be of subtype diagnostic value, if corroborated in larger patient cohorts. In bvFTD, a mixture of tau-positive and tau-negative underlying pathologies could possibly explain the intermediate NFL values.
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| 8. |
- Lindholm, Beata, et al.
(författare)
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Factors associated with fear of falling in people with Parkinson’s disease
- 2014
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Ingår i: BMC Neurology. - : BioMed Central Ltd.. - 1471-2377. ; 14
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: This study aimed to comprehensibly investigate potential contributing factors to fear of falling (FOF) among people with idiopathic Parkinson's disease (PD). METHODS: The study included 104 people with PD. Mean (SD) age and PD-duration were 68 (9.4) and 5 (4.2) years, respectively, and the participants' PD-symptoms were relatively mild. FOF (the dependent variable) was investigated with the Swedish version of the Falls Efficacy Scale, i.e. FES(S). The first multiple linear regression model replicated a previous study and independent variables targeted: walking difficulties in daily life; freezing of gait; dyskinesia; fatigue; need of help in daily activities; age; PD-duration; history of falls/near falls and pain. Model II included also the following clinically assessed variables: motor symptoms, cognitive functions, gait speed, dual-task difficulties and functional balance performance as well as reactive postural responses. RESULTS: Both regression models showed that the strongest contributing factor to FOF was walking difficulties, i.e. explaining 60% and 64% of the variance in FOF-scores, respectively. Other significant independent variables in both models were needing help from others in daily activities and fatigue. Functional balance was the only clinical variable contributing additional significant information to model I, increasing the explained variance from 66% to 73%. CONCLUSIONS: The results imply that one should primarily target walking difficulties in daily life in order to reduce FOF in people mildly affected by PD. This finding applies even when considering a broad variety of aspects not previously considered in PD-studies targeting FOF. Functional balance performance, dependence in daily activities, and fatigue were also independently associated with FOF, but to a lesser extent. Longitudinal studies are warranted to gain an increased understanding of predictors of FOF in PD and who is at risk of developing a FOF.
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| 9. |
- Londos, Elisabet, et al.
(författare)
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Dysphagia in Lewy body dementia - a clinical observational study of swallowing function by videofluoroscopic examination
- 2013
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Ingår i: BMC Neurology. - : Springer Science and Business Media LLC. - 1471-2377. ; 13
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Tidskriftsartikel (refereegranskat)abstract
- Background: Dysphagia, which can result in aspiration pneumonia and death, is a well-known problem in patients with dementia and Parkinson's disease. There are few studies on dysphagia in patients with dementia with Lewy bodies (DLB) and Parkinson's disease dementia (PDD), especially studies objectively documenting the type of swallowing dysfunction. The aim of this study was therefore to investigate the prevalence, and define the actual swallowing dysfunction according to a videofluoroscopic swallowing examination (VFSE) in patients with DLB and PDD. Methods: Eighty-two consecutive patients with DLB or PDD in a clinical follow-up program were asked about symptoms of dysphagia. Those experiencing dysphagia were examined with VFSE. Prevalence and type of swallowing dysfunction was recorded. Results: Twenty-six patients (32%) reported symptoms of dysphagia such as swallowing difficulties or coughing. Twenty-four (92%) of these had a documented swallowing dysfunction on VFSE. Eighty-eight percent suffered from pharyngeal dysfunction. Conclusions: Almost all DLB or PDD patients with subjective signs of dysphagia had pathologic results on VFSE, the majority of pharyngeal type. This type of dysphagia has not been reported in DLB before. The results have clinical implications and highlight the importance of asking for and examining swallowing function to prevent complications such as aspiration.
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| 10. |
- Mattsson, Niklas, 1979, et al.
(författare)
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Neuroinflammation in Lyme neuroborreliosis affects amyloid metabolism.
- 2010
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Ingår i: BMC Neurology. - : Springer Science and Business Media LLC. - 1471-2377. ; 10:51
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: The metabolism of amyloid precursor protein (APP) and beta-amyloid (Abeta) is widely studied in Alzheimer's disease, where Abeta deposition and plaque development are essential components of the pathogenesis. However, the physiological role of amyloid in the adult nervous system remains largely unknown. We have previously found altered cerebral amyloid metabolism in other neuroinflammatory conditions. To further elucidate this, we investigated amyloid metabolism in patients with Lyme neuroborreliosis (LNB). METHODS: The first part of the study was a cross-sectional cohort study in 61 patients with acute facial palsy (19 with LNB and 42 with idiopathic facial paresis, Bell's palsy) and 22 healthy controls. CSF was analysed for the beta-amyloid peptides Abeta38, Abeta40 and Abeta42, and the amyloid precursor protein (APP) isoforms alpha-sAPP and beta-sAPP. CSF total-tau (T-tau), phosphorylated tau (P-tau) and neurofilament protein (NFL) were measured to monitor neural cell damage. The second part of the study was a prospective cohort-study in 26 LNB patients undergoing consecutive lumbar punctures before and after antibiotic treatment to study time-dependent dynamics of the biomarkers. RESULTS: In the cross-sectional study, LNB patients had lower levels of CSF alpha-sAPP, beta-sAPP and P-tau, and higher levels of CSF NFL than healthy controls and patients with Bell's palsy. In the prospective study, LNB patients had low levels of CSF alpha-sAPP, beta-sAPP and P-tau at baseline, which all increased towards normal at follow-up. CONCLUSIONS: Amyloid metabolism is altered in LNB. CSF levels of alpha-sAPP, beta-sAPP and P-tau are decreased in acute infection and increase after treatment. In combination with earlier findings in multiple sclerosis, cerebral SLE and HIV with cerebral engagement, this points to an influence of neuroinflammation on amyloid metabolism.
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