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Background: Autologous hematopoietic stem cell transplantation (HSCT) is a potent treatment option for patients with aggressive relapsing-remitting multiple sclerosis (RRMS). Objective: To evaluate long-term outcomes of HSCT in MS. Methods: National retrospective single-center observational study of patients with aggressive RRMS that underwent HSCT in Norway from January 2015 to January 2018. Criteria for receiving HSCT included at least two clinical relapses the last year while on disease modifying treatment (DMT). Results: In total, 29 patients, with a mean follow-up time of 70 months (standard deviation:14.3), were evaluated. Twenty patients (69%) had sustained no evidence of disease activity (NEDA-3) status, 24 (83%) were relapse-free, 23 (79%) free of magnetic resonance imaging (MRI) activity, and 26 (90%) free of progression. Number of patients working full-time increased from 1 (3%), before HSCT, to 10 (33%) after 2 years and 15 (52%) after 5 years. Conclusion: HSCT offers long-term disease-free survival with successively increasing work participation in patients with aggressive MS resistant to DMTs. [ABSTRACT FROM AUTHOR]

In Norway, 89% of patients with Amyotrophic lateral sclerosis (ALS) lacks a genetic diagnose. ALS genes and genes that cause other neuromuscular or neurodegenerative disorders extensively overlap. This population-based study examined whether patients with ALS have a family history of neurological disorders and explored the occurrence of rare genetic variants associated with other neurodegenerative or neuromuscular disorders. During a two-year period, blood samples and clinical data from patients with ALS were collected from all 17 neurological departments in Norway. Our genetic analysis involved exome sequencing and bioinformatics filtering of 510 genes associated with neurodegenerative and neuromuscular disorders. The variants were interpreted using genotype-phenotype correlations and bioinformatics tools. A total of 279 patients from a Norwegian population-based ALS cohort participated in this study. Thirty-one percent of the patients had first- or second-degree relatives with other neurodegenerative disorders, most commonly dementia and Parkinson's disease. The genetic analysis identified 20 possible pathogenic variants, in ATL3, AFG3L2, ATP7A, BICD2, HARS1, KIF1A, LRRK2, MSTO1, NEK1, NEFH, and SORL1, in 25 patients. NEK1 risk variants were present in 2.5% of this ALS cohort. Only four of the 25 patients reported relatives with other neurodegenerative or neuromuscular disorders. Gene variants known to cause other neurodegenerative or neuromuscular disorders, most frequently in NEK1, were identified in 9% of the patients with ALS. Most of these patients had no family history of other neurodegenerative or neuromuscular disorders. Our findings indicated that AFG3L2, ATP7A, BICD2, KIF1A, and MSTO1 should be further explored as potential ALS-causing genes. [ABSTRACT FROM AUTHOR]

Background: Knowledge concerning exposure to abuse in adulthood and in pregnancy in people with multiple sclerosis (MS) is sparse. Objective: To determine the occurrence of adult abuse and abuse in relation to pregnancy in women with MS and their risk of revictimization (repeated abuse as adults after childhood abuse). Methods: This cross-sectional study comprised pregnant women from the Norwegian Mother, Father and Child Cohort study. Information on abuse was acquired through self-completed questionnaires. We used logistic regression to estimate adjusted odds ratios (aORs) with 95% confidence intervals (CIs). Results: We identified 106 women with MS at enrollment through linkage with national health registries. The reference group consisted of 77,278 women without MS. Twenty-seven women (26%) with MS reported any adult abuse compared to 15,491 women (20%) without MS, aOR 1.33 (0.85–2.09). Twenty-two (21%) women with MS reported systematic emotional abuse compared to 13% without MS, aOR 1.75 (1.08–2.83). Ten women (10%) with MS reported sexual abuse, compared to 6% without MS, aOR 1.72 (0.89–3.33). More women with MS reported rape as an adult, aOR 2.37 (1.02–5.49). Women with MS had higher risk of revictimization as adults, after childhood abuse, aOR 2.23 (1.22–4.10). The risk of abuse during pregnancy or 6 months preceding pregnancy was similar between the groups. Conclusions: Women with MS had increased occurrence of systematic emotional abuse, rape, and revictimization as adults, compared to women without MS. [ABSTRACT FROM AUTHOR]

Objective: In Norway, diagnoses from specialist health care visits, drug prescriptions, and causes of deaths are registered in compulsory health registers. We aimed to determine amyotrophic lateral sclerosis (ALS) prevalence from 2009 to 2015 by combining these registers. Methods: We validated the Norwegian Patient Registry (NPR) through hospital files, and linked it with the Norwegian Cause of Death Registry and the Norwegian Prescription Database. Poisson regression models were fitted for estimating gender ratios, time trends and possible interactions. Similar models were used for mortality data subtracted from the dataset. Results: Eleven percent of patients with at least one ALS-related entry in NPR did not have ALS. ALS prevalence could nevertheless be reliably estimated through ascertaining cases identified in two separate registers, or with at least two entries in NPR with first entry within four years prior to prevalence date. ALS prevalence remained stable, and was 7.6/100,000 (95% CI 6.9-8.4) at 31st December 2015. Mean male:female ratio was higher for prevalence (1.8; 95% CI 1.6-2.0) than for mortality (1.5; 95% CI 1.2-1.8) (p = 0.04). There were also significant regional differences in prevalence (p < 0.01) but not in mortality. Conclusions: Norwegian compulsory health registers provide reliable tools for ALS surveillance, and suggest gender and regional differences in survival after diagnosis. [ABSTRACT FROM AUTHOR]

Recent studies suggest that the incidence and mortality of amyotrophic lateral sclerosis (ALS) are increasing. Changing environmental factors could influence disease risk differently throughout life span, and also between genders, birth cohorts, and seasons of birth. We aimed at describing long-term ALS mortality trends in Norway between 1951 and 2014 using age-period-cohort analysis. The Norwegian Cause of Death Registry provided ALS mortality data that were age- and sex-adjusted through direct standardization. Poisson regression analyses were used for identification of mortality trends and potential month of birth effects. We identified 5345 ALS cases, of which 54.7 % were men. ALS mortality increased throughout the whole period ( p < 0.001), with a mean annual increase of 1.14 %. The increase was confined to those older than 60 years, but rates consistently dropped amongst the absolute oldest. The increase was mainly driven by birth cohort effects that increased from 1860 until 1934 ( p < 0.001). No month of birth effect or change in sex ratio was found. The continuous increase in ALS mortality since 1951 is best explained by the long-term changes in exposure to risk factors or in case ascertainment, affecting men and women equally in the generations born since 1860 and at least into 1934. [ABSTRACT FROM AUTHOR]

Background: Studies have shown the positive effects of multidisciplinary rehabilitation on disability and health-related quality of life in multiple sclerosis (MS). However, many patients do not seek such treatment, even if it is available free of charge. The aim of this study was to identify facilitators and barriers related to use of such treatment options. Methods: Five focus group interviews with 27 MS patients were conducted. Three groups included patients who had been admitted to a multidisciplinary MS rehabilitation institution, and two groups included outpatients of a university hospital who had not applied for specialized rehabilitation. Interviews were audiotaped and transcribed, and were analyzed qualitatively by means of a modified form of systematic text condensation. Results: Important factors influencing the use of an MS rehabilitation service were 1) the availability and suitability of initial information about the disease and the service, 2) assumptions and expectations about such a service, and 3) practical barriers in the patient's life. The prospect of having a retreat from work and family was described as a motivational factor. Lack of reorientation after diagnosis, fears and perceptions of being labeled as an MS patient, or having information overload and being confronted with disabled individuals were identified as barriers. Conclusions: Communication skills, including information-giving skills, of neurologists in relation to newly diagnosed MS patients need improvement. Rehabilitation programs for MS patients should include stays of different durations and purposes to it patients' needs. Health-care authorities should take measures to secure equal access to information about rehabilitation options across institutions and practicing physicians. [ABSTRACT FROM AUTHOR]

The article presents research which examines if body size influences the risk of multiple sclerosis (MS) in a population-based, case control study in Norway and Italy. It notes the definition of body size-related MS risk by odds ratios (ORs) in logistic regression analyses adjusting for age, smoking and outdoor activity. It reveals the possibility of obesity from childhood until young adulthood to be a risk factor for MS with a seemingly stronger effect in countries mentioned.

It has been suggested that Skogholt's disease is a new neurological disease entity. The disease, confined to a family line in Hedmark county, Norway, usually affects both the brain and peripheral nerves. Typical findings are white matter lesions in the brain, myelin damage in peripheral nerves, and discolored cerebrospinal fluid with high concentrations of protein, copper, and iron. Little is known about the natural progression of the disease and its underlying cause, but the high level of copper and iron in the cerebrospinal fluid may cause or exacerbate inflammation in the central nervous system. The present clinical study further explores the disease progression with clinical chemistry analyses and mass spectrometry of blood and cerebrospinal fluid (CSF) from patients and controls. Findings are corroborated with cognitive assessments. Pathological changes in CSF with low amyloid-β 42 and high levels of tau proteins, total protein, copper, and iron, were discovered among Skogholt patients. The Montreal Cognitive Assessment identified 36 % of the patients as below normal range, while most patients performed slower than the norm mean time on the Trail Making Test. Mini-Mental Status Examination disclosed only minor deviations. The findings in the present study strengthen our initial suggestion that Skogholt's disease most likely is a new neurological disorder and provide new clues to its cause: The disease may belong to the family of neurodegenerative disorders termed tauopathies. The increased level of copper and iron may contribute to neuroinflammation as these metals also have been associated with other neurodegenerative disorders. Although the causes of neurodegenerative disorders are currently largely unknown, studies on rare disease entities, such as the present one, may increase the understanding of neurodegeneration in general. [ABSTRACT FROM AUTHOR]