SwePub - sökning: WFRF:(Eeg Olofsson Karin)

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1.	Croona, Cecilia, et al. (författare) Neuropsychological findings in children with benign epilepsy with centrotemporal spikes 1999 Ingår i: Developmental medicine & child neurology. - 0012-1622. ; 41, s. 813-18 Tidskriftsartikel (refereegranskat)
2.	Edebol Eeg-Olofsson, Karin, et al. (författare) Congenital muscular dystrophy and brain malformation in two sibs: a pathological and neuroradiological comparison 1997 Ingår i: Congenital Muscular Dystrophies. - : Elsevier Science. ; , s. 337- Bokkapitel (övrigt vetenskapligt/konstnärligt)
3.	Eeg-Olofsson, Orvar, et al. (författare) Duchenne muscular dystrophy and idiopathic hyperCKemia in the same family 2008 Ingår i: European journal of paediatric neurology. - : Elsevier BV. - 1090-3798 .- 1532-2130. ; 12:5, s. 404-7 Tidskriftsartikel (refereegranskat)abstract Familial hyperCKemia is a rare condition, and a combination with Duchenne muscular dystrophy (DMD) is extremely rare. A boy showed muscle weakness from the age of 10 months and presented typical signs of DMD at the age of 18 months. The diagnosis was supported by markedly elevated serum creatine kinase (CK) value as well as by neurophysiological and muscle biopsy findings at the age of 23 months. The diagnosis was confirmed by identification of a stop codon in exon 43 (p.2095Arg>X) of the dystrophin gene. Interestingly, the father and his near relatives had increased serum CK values without any clinical symptoms or signs, nor a defect in caveolin-3 gene. We suggest that the occurrence of familial hyperCKemia may have triggered the early onset of symptoms in our patient.
4.	Lundberg, Staffan, et al. (författare) Hippocampal asymmetries and white matter abnormalities on MRI in benign childhood epilepsy with centrotemporal spikes 1999 Ingår i: Epilepsia. - : Wiley. - 0013-9580 .- 1528-1167. ; 40:12, s. 1808-15 Tidskriftsartikel (refereegranskat)abstract PURPOSE: To look for brain abnormalities by using magnetic resonance imaging (MRI) in patients with benign childhood epilepsy with centrotemporal spikes (BCECTS), which is the most common epilepsy syndrome in children. METHODS: Eighteen children, aged 6-12 years, with typical BCECTS were examined with MRI, six of them twice. RESULTS: Some hippocampal abnormality was found in six (33%) of the children, all with the syndrome's typical electroencephalogram (EEG) pattern ipsilaterally. Hippocampal size asymmetry was found in five (28%) children (right side < left in two and left < right in three), and high signal intensities on T2-weighted images were found in three (17%). Two children also had other abnormalities; one had a heterotopic nodule near the contralateral frontal horn, and one had an Arnold-Chiari malformation. The hippocampal asymmetry remained unchanged in three of the children who were reexamined after 2 years. High signal intensities on T2-weighted images were seen beneath the cortex-white matter junction in the frontal and temporal lobes of five (28%) children, one of whom also had a hippocampal asymmetry. MRIs were normal in eight (44%) children. CONCLUSION: For the first time, hippocampal asymmetries and white-matter abnormalities have been detectable on the MRIs of children with typical BCECTS. The etiology of the former is unclear, whereas the latter may be a result of a maturational delay involving a defective myelination. Long-term follow-up studies are needed to evaluate the relation between these findings and the clinical course of BCECTS.
5.	Toksvig Larsen, K, et al. (författare) Sykdommen maoamoya - en sjelden årsak til hjerneslag hos barn? 1997 Ingår i: Tidsskr Nor Laegeforen. ; 117 Tidskriftsartikel (refereegranskat)
6.	Adamo, Karin, et al. (författare) Risk for developing perianal abscess in type 1 and type 2 diabetes and the impact of poor glycemic control 2021 Ingår i: International Journal of Colorectal Disease. - : Springer. - 0179-1958 .- 1432-1262. ; 36:5, s. 999-1005 Tidskriftsartikel (refereegranskat)abstract Purpose: The primary aim of this study was to see whether perianal abscess rate differs between patients with type 1 and type 2 diabetes. A secondary aim was to determine whether poor glycemic control increases the risk for perianal abscess.Methods: Data from the Swedish National Diabetes Registry and the Swedish National Patient Registry between January 2008 and June 2015 were matched. The risk for anal abscess was evaluated in univariate and multivariate analyses with type of diabetes, HbA1c level, BMI, and various diabetes complications as independent factors.Results: Patients with type 1 diabetes had a lower rate of perianal abscess than patients with type 2 diabetes when adjusted for HbA1c, sex, and age (OR 0.65; 95% CI 0.57–0.73). The risk for perianal abscess increased with higher HbA1c. Incidence of perianal abscess was also elevated in diabetes patients with complications related to poor glycemic control such as ketoacidosis and coma (OR 2.63; 95% CI 2.06–3.35), gastroparesis, and polyneuropathy (OR 1.81; 95% CI 1.41–2.32).Conclusions: The prevalence of perianal abscess was higher among patients with type 2 diabetes than those with type 1, suggesting that metabolic derangement may be more important than autoimmune factors. Poor glycemic control was associated with higher risk for perianal abscess.
7.	Franck-Larsson, Karin, 1957-, et al. (författare) Physiological and structural abnormalities in patients with systemic sclerosis and faecal incontinence Annan publikation (övrigt vetenskapligt/konstnärligt)
8.	Franck-Larsson, Karin, et al. (författare) Physiological and structural anorectal abnormalities in patients with systemic sclerosis and fecal incontinence 2014 Ingår i: Scandinavian Journal of Gastroenterology. - : Informa UK Limited. - 0036-5521 .- 1502-7708. ; 49:9, s. 1073-1083 Tidskriftsartikel (refereegranskat)abstract ObjectiveFecal incontinence is common in systemic sclerosis (SSc), but the underlying mechanisms are not fully understood. The objectives of this study were to characterize anorectal physiological and morphological defects in SSc patients and to correlate the results with incontinence symptoms.Materials and methodsTwenty-five SSc patients underwent anorectal neurophysiological investigations, anal manometry, and ultrasound.ResultsEleven patients (44%) reported incontinence to solid or liquid feces, but no patient reported diarrhea. Increased fiber density (FD) was recorded in 78% of patients with and in 86% of patients without fecal incontinence not significant (NS). Incontinent patients had lower squeeze pressure (SP; median 49.5 mm Hg) in the high-pressure zone (HPZ) than continent patients (median 72 mm Hg; p = 0.01). In two of the incontinent patients, sonographic abnormalities of the internal anal sphincter (IAS) and the external anal sphincter (EAS) were present, whereas in another two patients isolated IAS abnormalities were seen. These four individuals had lower resting pressure at 1 cm and in the HPZ, and lower SP at 2 cm than patients with normal anorectal sonographic findings (p < 0.05).ConclusionLower voluntary SP in incontinent patients and EAS sonographic abnormalities only in patients with incontinence suggest that the EAS is more important in maintaining fecal continence in SSc patients than has previously been reported. The finding of increased FD in most patients further supports involvement of the EAS function in SSc and could indicate previous nerve injury with consequent incomplete reinnervation.
9.	Hanås, Ragnar, et al. (författare) Lower Pediatric HbA1c in Sweden during Recent Years Is Associated with a Lower HbA1c Nadir during the First Year after Onset 2020 Konferensbidrag (refereegranskat)
10.	Albanese-O'Neill, A., et al. (författare) Changes in HbA1c Between 2011 and 2017 in Germany/Austria, Sweden, and the United States: A Lifespan Perspective 2022 Ingår i: Diabetes Technology & Therapeutics. - : Mary Ann Liebert Inc. - 1520-9156 .- 1557-8593. ; 24:1, s. 32-41 Tidskriftsartikel (refereegranskat)abstract Aims: This study assessed hemoglobin A1c (HbA1c) across the lifespan in people with type 1 diabetes (T1D) in Germany/Austria, Sweden, and the United States between 2011 and 2017 to ascertain temporal and age-related trends. Methods: Data from the Diabetes-Patienten-Verlaufsdokumentation (DPV) (n = 25,651 in 2011, n = 29,442 in 2017); Swedish Pediatric Diabetes Quality Registry (SWEDIABKIDS)/National Diabetes Register (NDR), (n = 44,474 in 2011, n = 53,690 in 2017); and T1D Exchange (n = 16,198 in 2011, n = 17,087 in 2017) registries were analyzed by linear regression to compare mean HbA1c overall and by age group. Results: Controlling for age, sex, and T1D duration, HbA1c increased in the United States between 2011 and 2017, decreased in Sweden, and did not change in Germany/Austria. Controlling for sex and T1D duration, mean HbA1c decreased between 2011 and 2017 in all age cohorts in Sweden (P < 0.001). In the United States, HbA1c stayed the same for participants <6 years and 45 to <65 years and increased in all other age groups (P < 0.05). In Germany/Austria, HbA1c stayed the same for participants <6 to <13 years and 18 to <25 years; decreased for participants ages 13 to <18 years (P < 0.01); and increased for participants >= 25 years (P < 0.05). Conclusions: The comparison of international trends in HbA1c makes it possible to identify differences, explore underlying causes, and share quality improvement processes. National quality improvement initiatives are well accepted in Europe but have yet to be implemented systematically in the United States. However, disparities created by the lack of universal access to health care coverage, unequal access to diabetes technologies (e.g., continuous glucose monitoring) regardless of insurance status, and high out-of-pocket cost for the underinsured ultimately limit the potential of quality improvement initiatives.
11.	Askmark, Håkan, et al. (författare) Parkinsonism and neck extensor myopathy. A new syndrome or coincidental findings? 2001 Ingår i: Arch. Neurol.. ; 58, s. 232- Tidskriftsartikel (refereegranskat)
12.	Axelson, Hans W., et al. (författare) Simplified Evaluation of the Paradoxical Puborectalis Contraction With Surface Electrodes 2010 Ingår i: Diseases of the Colon & Rectum. - 0012-3706 .- 1530-0358. ; 53:6, s. 928-931 Tidskriftsartikel (refereegranskat)abstract PURPOSE:Paradoxical puborectalis contraction during defecation is one possible explanation for constipation. The degree of paradoxical contraction can be evaluated by intramuscular electromyography from the puborectalis and external anal sphincter muscles. This study aimed to determine whether a noninvasive technique with surface electrodes placed over the subcutaneous part of the external anal sphincter is feasible in the evaluation of paradoxical activity.METHODS:Twenty-five patients with constipation were studied. Sphincter muscle activity during strain and squeeze maneuvers was recorded using surface electrodes placed 1 cm from the anal verge. In addition, intramuscular recordings were made simultaneously from the external anal sphincter and puborectalis muscles. The degree of paradoxical activation was calculated as a strain/squeeze index. The patients were examined either in the left lateral position or sitting on a commode.RESULTS:The study revealed significant (P < .01) correlations between indices obtained from the surface anal sphincter recordings and the intramuscular recordings (from the external anal sphincter and the puborectalis muscles).CONCLUSION: Surface recordings from the external anal sphincter seem to be an equally reliable, less time consuming, and less painful alternative to invasive measurements of paradoxical activity. In a few patients, however, invasive recordings may still be required.
13.	Edebol Eeg-Olofsson, Karin (författare) Dystrophinopathies 2003 Ingår i: Clinical Neurophysiology of Neuromuscular diseases. - : Elsevier Science (USA). - 0444508678 ; , s. 429-441 Bokkapitel (refereegranskat)
14.	Edebol Eeg-Olofsson, Karin (författare) Elektroenzephalographie (EEG) bei frühgeborenen und reifgeborenen Kindern. 2001 Ingår i: Aktuelle Neuropädiatrie 2000. - : Novartis Pharma Verlag, Nürnberg. ; , s. 131- Bokkapitel (övrigt vetenskapligt/konstnärligt)
15.	Edebol Eeg-Olofsson, Karin (författare) Kongenital muskeldystrofi 1997 Ingår i: Socialstyrelsens Kunskapsdatabas. Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
16.	Edebol Eeg-Olofsson, Karin (författare) Kongenitala myopatier - en smågrupp av muskelsjukdomar hos småbarn 2001 Ingår i: Socialmedicinsk tidskrift. ; 2, s. 155- Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
17.	Edebol Eeg-Olofsson, Karin, et al. (författare) Konzo 2004 Ingår i: Clinical Neurophysiology of Motor Neuron Diseaes. - : Elsevier Science (USA). - 0444513590 ; , s. 675-686 Bokkapitel (refereegranskat)
18.	Edebol Eeg-Olofsson, Karin (författare) Neurophysiological aspects on oral motor activity 2001 Ingår i: Practices in Orofacial Therapyedit by Matti Sillanpää. - : Finnish Association for orofacial therapy. ; , s. 1- Bokkapitel (övrigt vetenskapligt/konstnärligt)
19.	Edebol Eeg-Olofsson, Karin (författare) Sphincter dysfunction 2005 Ingår i: Clinical Neurophysiology of infancy, childhood and adolescence. - : Elsevier, USA. ; , s. 827-831 Bokkapitel (populärvet., debatt m.m.)
20.	Edebol Eeg-Olofsson, Karin (författare) Techniques in pediatric neurophysiology 2004 Ingår i: Advances in Clinical Neurophysiology. - : Elsevier B.V.. ; , s. 137-144 Bokkapitel (refereegranskat)
21.	Edebol Eeg-Olofsson, Karin (författare) Transcranial magnetic stimulation: an overview 2005 Ingår i: Clinical Neurophysiology of Motor Neuron Diseases. - : Elsevier, USA. ; , s. 819-825 Bokkapitel (populärvet., debatt m.m.)
22.	Edfeldt, Lennart, et al. (författare) Evaluation of cost-utility in middle ear implantation in the 'Nordic School' : a multicenter study in Sweden and Norway 2014 Ingår i: Acta Oto-Laryngologica. - : Informa UK Limited. - 0001-6489 .- 1651-2251. ; 134:1, s. 19-25 Tidskriftsartikel (refereegranskat)abstract Conclusion: Hearing restoration using an active middle ear implant (AMEI) is a highly cost-effective treatment for a selected group of patients with no other possibilities for auditory rehabilitation. Objectives: To evaluate the cost-utility of using an AMEI for hearing rehabilitation. Methods: This was a prospective, multicenter, single-subject repeated study in six tertiary referral centers. Twenty-four patients with sensorineural (SNHL), conductive (CHL), and mixed hearing loss (MHL) were implanted with the AMEI Vibrant Soundbridge (R) (VSB) for medical reasons. All patients were previously rehabilitated with conventional hearing aids. Multiple validated quality of life patient questionnaires, Health Utilities Index (HUI 2 and 3), and Glasgow Hearing Aid Benefit Profile (GHABP) were used to determine the utility gain and quality adjusted life years (QALY). Directly related treatment costs for the implantation were calculated and related to utility gain and QALY. Results: The cost/QALY for patients with SNHL was estimated at (sic)7260/QALY, and for patients with C/MHL at (sic)12 503/QALY.
23.	Eeg-Olofsson, Måns, 1967, et al. (författare) TTCOV19: timing of tracheotomy in SARS-CoV-2-infected patients: a multicentre, single-blinded, randomized, controlled trial 2022 Ingår i: Critical Care. - : Springer Science and Business Media LLC. - 1364-8535. ; 26:1 Tidskriftsartikel (refereegranskat)abstract Background: Critically ill COVID-19 patients may develop acute respiratory distress syndrome and the need for respiratory support, including mechanical ventilation in the intensive care unit. Previous observational studies have suggested early tracheotomy to be advantageous. The aim of this parallel, multicentre, single-blinded, randomized controlled trial was to evaluate the optimal timing of tracheotomy. Methods: SARS-CoV-2-infected patients within the Region Vastra Gotaland of Sweden who needed intubation and mechanical respiratory support were included and randomly assigned to early tracheotomy (<= 7 days after intubation) or late tracheotomy (>= 10 days after intubation). The primary objective was to compare the total number of mechanical ventilation days between the groups. Results: One hundred fifty patients (mean age 65 years, 79% males) were included. Seventy-two patients were assigned to early tracheotomy, and 78 were assigned to late tracheotomy. One hundred two patients (68%) underwent tracheotomy of whom sixty-one underwent tracheotomy according to the protocol. The overall median number of days in mechanical ventilation was 18 (IQR 9; 28), but no significant difference was found between the two treatment regimens in the intention-to-treat analysis (between-group difference:- 1.5 days (95% CI -5.7 to 2.8); p= 0.5). A significantly reduced number of mechanical ventilation days was found in the early tracheotomy group during the per-protocol analysis (between-group difference: - 8.0 days (95% CI - 13.8 to - 2.27); p= 0.0064). The overall correlation between the timing of tracheotomy and days of mechanical ventilation was significant (Spearman's correlation: 0.39, p < 0.0001). The total death rate during intensive care was 32.7%, but no significant differences were found between the groups regarding survival, complications or adverse events. Conclusions: The potential superiority of early tracheotomy when compared to late tracheotomy in critically ill patients with COVID-19 was not confirmed by the present randomized controlled trial but is a strategy that should be considered in selected cases where the need for MV for more than 14 days cannot be ruled out.
24.	Hambraeus, Joakim, et al. (författare) Acute motor axonal neuropathy with selective involvement of the lower limbs. 2002 Ingår i: Journal of Clinical Neuromuscular Disease. Tidskriftsartikel (refereegranskat)
25.	Jones, R, et al. (författare) Paediatric electromyography and neurography. 2003 Ingår i: Clinical Neurophysiology of Neuromuscular diseases.. - : Elsevier Science (USA). - 0444508678 ; , s. 389-406 Bokkapitel (refereegranskat)
26.	Karlbom, Urban, et al. (författare) Evaluation of the paradoxical sphincter contraction by a strain/squeeze index in constipated patients. 2005 Ingår i: Dis Colon Rectum. - 0012-3706. ; 48:10, s. 1923-9 Tidskriftsartikel (refereegranskat)
27.	Khalifa, Najah, et al. (författare) Low-frequent Repetitive Transcranial Magnetic Stimulation (rTMS) in Adolescents with Tourette Syndrome 2017 Ingår i: Journal of Neonatal and Pediatric Medicine. - 2572-4983. ; 3:S1 Tidskriftsartikel (refereegranskat)
28.	Lanzinger, S., et al. (författare) A collaborative comparison of international pediatric diabetes registries 2022 Ingår i: Pediatric Diabetes. - : Hindawi Limited. - 1399-543X .- 1399-5448. ; 23:6, s. 627-640 Tidskriftsartikel (refereegranskat)abstract Background An estimated 1.1 million children and adolescents aged under 20 years have type 1 diabetes worldwide. Principal investigators from seven well-established longitudinal pediatric diabetes registries and the SWEET initiative have come together to provide an international collaborative perspective and comparison of the registries. Work Flow Information and data including registry characteristics, pediatric participant clinical characteristics, data availability and data completeness from the Australasian Diabetes Data Network (ADDN), Danish Registry of Childhood and Adolescent Diabetes (DanDiabKids), Diabetes prospective follow-up registry (DPV), Norwegian Childhood Diabetes Registry (NCDR), National Paediatric Diabetes Audit (NPDA), Swedish Childhood Diabetes Registry (Swediabkids), T1D Exchange Quality Improvement Collaborative (T1DX-QI), and the SWEET initiative was extracted up until 31 December 2020. Registry Objectives and Outcomes The seven diabetes registries and the SWEET initiative collectively show data of more than 900 centers and around 100,000 pediatric patients, the majority with type 1 diabetes. All share the common objectives of monitoring treatment and longitudinal outcomes, promoting quality improvement and equality in diabetes care and enabling clinical research. All generate regular benchmark reports. Main differences were observed in the definition of the pediatric population, the inclusion of adults, documentation of CGM metrics and collection of raw data files as well as linkage to other data sources. The open benchmarking and access to regularly updated data may prove to be the most important contribution from registries. This study describes aspects of the registries to enable future collaborations and to encourage the development of new registries where they do not exist.
29.	Mattsson, Peter, et al. (författare) Association between sociodemographic status and antiepileptic drug prescriptions in children with epilepsy 2012 Ingår i: Epilepsia. - : Wiley. - 0013-9580 .- 1528-1167. ; 53:12, s. 2149-2155 Tidskriftsartikel (refereegranskat)abstract Purpose: We investigated whether in Sweden sociodemographic differences are associated with access to expert health care and antiepileptic drug (AED) prescriptions in children with epilepsy.Methods: Data on epilepsy, prescription of AEDs, and sociodemographic variables were obtained from several national administrative registers. We linked individual data to examine whether access by pediatric epilepsy patients to neuropediatricians and the prescription of individual AEDs differed according to gender, age, parental education, place of residence, parental region of birth, and household income. We also assessed whether AEDs are prescribed differently to patients with epilepsy by neuropediatricians as compared to other physicians.Key Findings: Of 1,788,382 children aged 1–17 years in 2006, living in the country by the end of 2006, 9,935 had a diagnosis of epilepsy (0.56%). Patients with epilepsy on AED treatment (n = 3,631) comprised 0.24% of the total Swedish population aged 1–17 years. Out of 3631 patients with epilepsy on AED treatment, 2301 (63.4%) received prescriptions from a neuropediatrician. Children with epilepsy aged 1–5 years old—as opposed to older children and adolescents—and children with epilepsy residing in large cities—as opposed to children living in smaller cities and rural areas—were more likely to be treated by a neuropediatrician. Children living in large cities received oxcarbazepine to a greater extent than children living in rural areas. Levetiracetam was prescribed more extensively to children whose parents had higher incomes. Of the five most frequently used AEDs, three (lamotrigine, oxcarbazepine, and levetiracetam) were prescribed to a larger extent by a neuropediatrician rather than by other specialists, and one AED (carbamazepine) was prescribed to a lesser extent.Significance: The results of this nationwide cross-sectional study of children with epilepsy are important because they show that universal coverage for medical care does not eliminate inequalities of access to health care services among children and adolescents. No data are available that can guide us as to whether the density of child neurologists is of importance to access to expert health care, but this seems likely. Prescription patterns of AEDs differ between child neurologists and other specialists.
30.	Mwanza, JC, et al. (författare) Neuro-opthalmological findings in konzo, an upper motor neuron disorder in Africa. 2003 Ingår i: Eur J Opthalmol. ; :13, s. 383-389 Tidskriftsartikel (refereegranskat)
31.	Osterberg, Asbjörn, et al. (författare) Is electrostimulation of the pelvic floor an effective treatment for neurogenic faecal incontinence. 1999 Ingår i: Scand J Gastroenterol. ; 34, s. 319- Tidskriftsartikel (refereegranskat)
32.	Osterberg, A, et al. (författare) Results of neurophysiologic evaluation in fecal incontinence 2000 Ingår i: Dis Colon Rectum. ; 43, s. 1256- Tidskriftsartikel (refereegranskat)
33.	Puksa, L., et al. (författare) Reference values for F wave parameters in healthy 3-20 year old subjects 2011 Ingår i: Clinical Neurophysiology. - : Elsevier BV. - 1388-2457 .- 1872-8952. ; 122:1, s. 199-204 Tidskriftsartikel (refereegranskat)abstract Objective: To create a reference value database for F wave parameters from healthy subjects aged 3-20 yr. Methods: We studied the following parameters: minimum F wave latency minus distal motor latency (FMINLAT), number of F waves/20 stimuli (FNUMBER) and F wave dispersion (FDISP). The median, ulnar, peroneal and tibial nerves were studied. All four nerves were not analyzed in all subjects, the number of subjects varied from 78 to 118 in each nerve. Results: Age explained 71-87% of the variability of FLATMIN while height explained 80-95% of the variability. The FMINLAT increases by 0.12 ms/cm of height in the upper limb nerves and by 0.28 ms/cm in the lower limb nerves. Gender did not influence the FMINLAT. FDISP was not related with age, height or gender. FNUMBER was not related with age or height, it was somewhat larger in males than females but the difference was not significant in all nerves. Conclusions: The best model for FMINLAT was a linear regression model with height as an independent variable. FDISP and FNUMBER are not related to age, height or gender between the ages of 3 and 20 yr. Significance: We have constructed clinically useful reference values for F wave parameters in healthy subjects aged 3-20 yr for the main motor nerves commonly studied.
34.	Santillo, Alexander, et al. (författare) Frontotemporal Dementia-amyotrophic Lateral Sclerosis Complex is Simulated by Neurodegeneration With Brain Iron Accumulation 2009 Ingår i: Alzheimer Disease and Associated Disorders. - 0893-0341 .- 1546-4156. ; 23:3, s. 298-300 Tidskriftsartikel (refereegranskat)abstract We describe a case of late onset neurodegeneration with brain iron accumulation (NBIA) presenting as frontotemporal dementia (FTD) with amyotrophic lateral sclerosis (ALS). A male patient presented at age 66 with change of personality: disinhibition, emotional blunting, and socially inappropriate behavior, coupled with dysarthria, dystonia, and corticospinal tract involvement. Magnetic resonance imaging showed general cortical atrophy, iron deposits in the globus pallidus, and the "eye of the tiger" sign. Neuropsychologic performance was globally reduced, especially executive functions. Fluorodeoxyglucose positron emission tomography showed hypometabolism predominantly in frontal and temporal areas. Repeated neurophysiologic examinations showed signs of chronic denervation. The patient was diagnosed with NBIA but fulfilled consensus criteria for FTD and had a clinical picture of ALS, without neurophysiologic confirmation. Our finding introduces NBIA as a possible cause of FTD and as a differential diagnosis of the FTD-ALS complex.
35.	Swoboda, K, et al. (författare) Pediatric Electromyography 2002 Ingår i: Neuromuscular disorders of infancy, childhood and adolescence. - : Elsevier Science. ; , s. 35-75 Bokkapitel (refereegranskat)
36.	Tshala-Katumbay, Desire, et al. (författare) Abnormalities of somatosensory evoked potentials in konzo - an upper motor neuron disorder 2002 Ingår i: Clinical Neurophysiology. ; 113, s. 10- Tidskriftsartikel (refereegranskat)
37.	Tshala-Katumbay, Desire, et al. (författare) Analysis of motor pathway involvement in konzo using transcranial electrical and magnetic stimulation 2002 Ingår i: Muscle & Nerve. ; 25, s. 230- Tidskriftsartikel (refereegranskat)
38.	Tshala-Katumbay, Desire, et al. (författare) EEG findings in konzo - a spastic para/tetraparesis of acute onset 2000 Ingår i: Clin Electroencephalography. ; 31, s. 196- Tidskriftsartikel (refereegranskat)
39.	Tshala-Katumbay, Desire, et al. (författare) Impairments, disabilities and handicap pattern in konzo - a non-progressive spastic para/tetraparesis of acute onset 2001 Ingår i: Disabil Rehabil. ; 23, s. 731- Tidskriftsartikel (refereegranskat)
40.	Tshala-Katumbay, Desire, et al. (författare) Neuroepidemiology of konzo a spastic para/tetraparesis of acute onset in a new area of the democratic republic of Congo 2001 Ingår i: African Journal of Neurological Sciences. ; 20, s. 8- Tidskriftsartikel (refereegranskat)

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