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Sökning: hsv:(MEDICIN OCH HÄLSOVETENSKAP) hsv:(Klinisk medicin) hsv:(Psykiatri)

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  • Hansson, Oskar, et al. (författare)
  • Prediction of Alzheimer's Disease Using the CSF Abeta42/Abeta40 Ratio in Patients with Mild Cognitive Impairment.
  • 2007
  • Ingår i: Dementia and Geriatric Cognitive Disorders. - Karger. - 1420-8008. ; 23:5, s. 316-320
  • Tidskriftsartikel (refereegranskat)abstract
    • Evidence supports an important role for beta-amyloid (A beta) in the pathogenesis of Alzheimer's disease ( AD). Here, we investigate baseline levels of the 40- and 42-amino-acid-long A beta peptides (A beta 40 and A beta 42) in cerebrospinal fluid (CSF) from a cohort of patients with mild cognitive impairment (MCI, n = 137) in relation to the final diagnosis after 4 - 6 years of follow-up time. CSF A beta 42 concentration at baseline and the A beta 42/A beta 40 ratio were significantly decreased in the MCI patients who developed AD as compared to cognitively stable MCI patients and MCI patients who developed other forms of dementia ( p < 0.001). The baseline levels of A beta 40 were similar in all MCI groups but correlated with change in Mini Mental State Examination scores in converters to AD. The A beta 42/A beta 40 ratio was superior to A beta 42 concentration with regard to identifying incipient AD in MCI ( p < 0.05). In conclusion, the data provide further support for the view that amyloid precursor protein metabolism is disturbed in early sporadic AD and points to the usefulness of the A beta 42/ A beta 40 ratio as a predictive biomarker for AD.
  • Hariz, Marwan I, et al. (författare)
  • Multicentre European study of thalamic stimulation for parkinsonian tremor : a 6 year follow-up
  • 2008
  • Ingår i: Journal of neurology, neurosurgery and psychiatry. - BMJ Group. - 1468-330X. ; 79:6, s. 694-699
  • Tidskriftsartikel (refereegranskat)abstract
    • AIM: To evaluate the results of ventral intermediate (Vim) thalamic deep brain stimulation (DBS) in patients with tremor predominant Parkinson's disease (PD) at 6 years post surgery.METHODS: This was a prolonged follow-up study of 38 patients from eight centres who participated in a multicentre study, the 1 year results of which have been published previously. Total scores as well as scores for individual items of the motor part and the disability part of the Unified Parkinson's Disease Rating Scale were used for evaluation.RESULTS: Tremor was still effectively controlled by DBS and appendicular rigidity and akinesia remained stable compared with baseline. Axial scores (speech, gait and postural instability), however, worsened, and in parallel the initial improvement in activities of daily living scores at the 1 year follow-up had disappeared at 6 years, despite sustained improvement of tremor. Remarkably, neither daily doses of dopaminergic medication nor fluctuations and dyskinesias had changed at 6 years compared with baseline in this particular patient group.CONCLUSION: This study confirms that patients with tremor dominant PD who do not present with fluctuations and dyskinesias may have a relatively benign progression of the disease. Vim DBS, although having no effect on akinesia and rigidity, is a relatively lenient surgical procedure and may still have a place for long term symptomatic control of PD tremor in selected patients.
  • Hedenius, Martina, 1970-, et al. (författare)
  • Impaired implicit sequence learning in children with developmental dyslexia
  • 2013
  • Ingår i: Research in Developmental Disabilities. - 0891-4222 .- 1873-3379. ; 34:11, s. 3924-3935
  • Tidskriftsartikel (refereegranskat)abstract
    • It has been proposed that an impairment of procedural memory underlies a range of linguistic, cognitive and motor impairments observed in developmental dyslexia (DD). However, studies designed to test this hypothesis using the implicit sequence learning paradigm have yielded inconsistent results. A fundamental aspect of procedural learning is that it takes place over an extended time-period that may be divided into distinct stages based on both behavioural characteristics and neural correlates of performance. Yet, no study of implicit sequence learning in children with DD has included learning stages beyond a single practice session. The present study was designed to fill this important gap by extending the investigation to include the effects of overnight consolidation as well as those of further practice on a subsequent day. The results suggest that the most pronounced procedural learning impairment in DD may emerge only after extended practice, in learning stages beyond a single practice session.
  • Höglund Carlsson, Lotta, et al. (författare)
  • Coexisting disorders and problems in preschool children with autism spectrum disorders.
  • 2013
  • Ingår i: TheScientificWorldJournal. - 1537-744X. ; 2013
  • Tidskriftsartikel (refereegranskat)abstract
    • Objectives. To analyze cooccurring disorders and problems in a representative group of 198 preschool children with autism spectrum disorders (ASD) who had had interventions at a specialized habilitation center. Methods. Parents and children were seen by a research team. Data were based on parental interviews, pediatric assessments, and tests of the child. Information on autistic symptoms, general cognitive function, speech and language, motor function, epilepsy, vision, hearing, activity level, behavior, and sleep was collected. Results. Three ASD categories were used: (1) autistic disorder (AD), (2) autistic-like condition (ALC) or Asperger syndrome, and (3) one group with autistic symptoms/traits but not entirely all its criteria met for ASD. Children with autism had a mean of 3.2 coexisting disorders or problems, the ALC/Asperger group had a mean of 1.6, and children with autistic traits had a mean of 1.6. The most common disorder/problems in the total group pertained to language problems (78%), intellectual disability (ID) (49%), below average motor function (37%), and severe hyperactivity/ADHD (33%). Conclusions. The results accord with the concept of early symptomatic syndromes eliciting neurodevelopmental clinical examination (ESSENCE), and highlight the need of considering ASD in a broad perspective taking also other cooccurring developmental disorders into account.
  • Ingre, Caroline, 1977-, et al. (författare)
  • A novel phosphorylation site mutation in profilin 1 revealed in a large screen of US, Nordic and German amyotrophic lateral sclerosis/frontotemporal dementia cohorts
  • 2013
  • Ingår i: Neurobiology of Aging. - New York : Elsevier. - 0197-4580. ; 34:6
  • Tidskriftsartikel (refereegranskat)abstract
    • Profilin 1 is a central regulator of actin dynamics. Mutations in the gene profilin 1 (PFN1) have veryrecently been shown to be the cause of a subgroup of amyotrophic lateral sclerosis (ALS). Here, weperformed a large screen of US, Nordic, and German familial and sporadic ALS and frontotemporaldementia (FTLD) patients for PFN1 mutations to get further insight into the spectrum and pathogenicrelevance of this gene for the complete ALS/FTLD continuum. Four hundred twelve familial and 260sporadic ALS cases and 16 ALS/FTLD cases from Germany, the Nordic countries, and the United Stateswere screened for PFN1 mutations. Phenotypes of patients carrying PFN1 mutations were studied. Ina German ALS family we identified the novel heterozygous PFN1 mutation p.Thr109Met, which wasabsent in controls. This novel mutation abrogates a phosphorylation site in profilin 1. The recentlydescribed p.Gln117Gly sequence variant was found in another familial ALS patient from the United States.The ALS patients with mutations in PFN1 displayed spinal onset motor neuron disease without overtcognitive involvement. PFN1 mutations were absent in patients with motor neuron disease anddementia, and in patients with only FTLD. We provide further evidence that PFN1 mutations can causeALS as a Mendelian dominant trait. Patients carrying PFN1 mutations reported so far represent the“classic” ALS end of the ALS-FTLD spectrum. The novel p.Thr109Met mutation provides additional proofof-principle that mutant proteins involved in the regulation of cytoskeletal dynamics can cause motorneuron degeneration. Moreover, this new mutation suggests that fine-tuning of actin polymerization byphosphorylation of profilin 1 might be necessary for motor neuron survival.
  • Johansson, A, et al. (författare)
  • Genetic association of CDC2 with cerebrospinal fluid tau in Alzheimer's disease
  • 2005
  • Ingår i: Dementia and Geriatric Cognitive Disorders. - 1420-8008. ; 20:6, s. 367-374
  • Tidskriftsartikel (refereegranskat)abstract
    • We have recently reported that a polymorphism in the cell division cycle (CDC2) gene, designated Ex6 + 7I/D, is associated with Alzheimer's disease (AD). The CDC2 gene is located on chromosome 10q21.1 close to the marker D10S1225 linked to AD. Active cdc2 accumulates in neurons containing neurofibrillary tangles (NFT), a process that can precede the formation of NFT. Therefore, CDC2 is a promising candidate susceptibility gene for AD. We investigated the possible effects of the CDC2 polymorphism on cerebrospinal fluid (CSF) biomarkers in AD patients. CDC2 genotypes were evaluated in relation to CSF protein levels of total tau, phospho-tau and beta-amyloid (1-42) in AD patients and control individuals, and in relation to the amount of senile plaques and NFT in the frontal cortex and in the hippocampus in patients with autopsy-proven AD and controls. The CDC2 Ex6 + 7I allele was associated with a gene dose-dependent increase of CSF total tau levels (F-2,F- 626 = 7.0, p = 0.001) and the homozygous CDC2Ex6 +7II genotype was significantly more frequent among AD patients compared to controls (p = 0.006, OR = 1.57, 95% CI 1.13-2.17). Our results provide further evidence for an involvement of cdc2 in the pathogenesis of AD.
  • Johnell, Kristina, et al. (författare)
  • Differences in Drug Therapy between Dementia Disorders in the Swedish Dementia Registry : A Nationwide Study of over 7,000 Patients
  • 2013
  • Ingår i: Dementia and Geriatric Cognitive Disorders. - 1420-8008. ; 35:5-6, s. 239-248
  • Tidskriftsartikel (refereegranskat)abstract
    • Background/Aims: We aimed to study whether there are differences between dementia disorders and the use of anti-dementia drugs and antipsychotics (neuroleptics) in a large population of dementia patients. Methods: Information about dementia disorders was obtained from the national Swedish Dementia Registry (SveDem) 2007-2010 (n = 7,570). Multivariate logistic regression analysis was performed to investigate the association between dementia disorders and the use of anti-dementia drugs and antipsychotics, after adjustment for age, sex, residential setting, living alone, MMSE score and number of other drugs (a proxy for overall co-morbidity). Results: More than 80% of the Alzheimer's disease (AD) and 86% of dementia with Lewy bodies (DLB) patients used anti-dementia drugs. Women were more likely than men to be treated with cholinesterase inhibitors. A higher MMSE score was positively associated with the use of cholinesterase inhibitors, but negatively associated with NMDA receptor antagonists and antipsychotics. Use of antipsychotics was 6% overall; however, it was 16% in DLB patients with an adjusted odds ratio of 4.2 compared to AD patients. Conclusion: Use of anti-dementia drugs in AD was in agreement with Swedish guidelines. However, use of antipsychotics in DLB patients was high, which might be worrying given the susceptibility of DLB patients to antipsychotics.
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