TY  - JOUR
AB  - BACKGROUND: Multiple Sclerosis (MS) represents the most common inflammatory neurological disease causing disability in early adulthood. Childhood and adolescence factors might be of relevance in the development of MS. We aimed to investigate the association between various factors (e.g., prematurity, breastfeeding, daycare attendance, weight history) and MS risk. METHODS: Data from the baseline assessment of the German National Cohort (NAKO) were used to calculate adjusted hazard ratios (HR) and 95% confidence intervals (CI) for the association between childhood and adolescence factors and risk of MS. Analyses stratified by sex were conducted. RESULTS: Among a total of 204,273 participants, 858 reported an MS diagnosis. Male sex was associated with a decreased MS risk (HR 0.48; 95% CI 0.41-0.56), while overweight (HR 2.03; 95% CI 1.41-2.94) and obesity (HR 1.89; 95% CI 1.02-3.48) at 18 years of age compared to normal weight were associated with increased MS risk. Having been breastfed for ≤ 4 months was associated with a decreased MS risk in men (HR 0.59; 95% CI 0.40-0.86) compared to no breastfeeding. No association with MS risk was observed for the remaining factors. CONCLUSIONS: Apart from overweight and obesity at the age of 18 years, we did not observe considerable associations with MS risk. The proportion of cases that can be explained by childhood and adolescence factors examined in this study was low. Further investigations of the association between the onset of overweight and obesity in childhood and adolescence and its interaction with physical activity and MS risk seem worthwhile.
AU  - Holz, A.*
AU  - Obi, N.*
AU  - Ahrens, W.*
AU  - Berger, K.*
AU  - Bohn, B.*
AU  - Brenner, H.*
AU  - Fischer, B.*
AU  - Fricke, J.*
AU  - Führer, A.*
AU  - Gastell, S.*
AU  - Greiser, K.H.*
AU  - Harth, V.*
AU  - Heise, J.K.*
AU  - Holleczek, B.*
AU  - Keil, T.*
AU  - Klett-Tammen, C.J.*
AU  - Leitzmann, M.*
AU  - Lieb, W.*
AU  - Meinke-Franze, C.*
AU  - Michels, K.B.*
AU  - Mikolajczyk, R.*
AU  - Nimptsch, K.*
AU  - Peters, A.
AU  - Pischon, T.*
AU  - Riedel, O.*
AU  - Schikowski, T.*
AU  - Schipf, S.*
AU  - Schmidt, B.*
AU  - Schulze, M.B.*
AU  - Stang, A.*
AU  - Hellwig, K.*
AU  - Riemann-Lorenz, K.*
AU  - Heesen, C.*
AU  - Becher, H.*
C1  - 70487
C2  - 55403
CY  - Campus, 4 Crinan St, London N1 9xw, England
TI  - Childhood and adolescence factors and multiple sclerosis: Results from the German National Cohort (NAKO).
JO  - BMC Neurology
VL  - 24
IS  - 1
PB  - Bmc
PY  - 2024
ER  - 

TY  - JOUR
AB  - Background For recurrent glioblastoma (GB) patients, several therapy options have been established over the last years such as more aggressive surgery, re-irradiation or chemotherapy. Age and the Karnofsky Performance Status Scale (KPSS) are used to make decisions for these patients as these are established as prognostic factors in the initial diagnosis of GB. This study's aim was to evaluate preoperative patient comorbidities by using the age-adjusted Charlson Comorbidity Index (ACCI) as a prognostic factor for recurrent GB patients. Methods In this retrospective analysis we could include 123 patients with surgery for primary recurrence of GB from January 2007 until December 2016 (43 females, 80 males, mean age 57 years (range 21-80 years)). Preoperative age, sex, ACCI, KPSS and adjuvant treatment regimes were recorded for each patient. Extent of resection (EOR) was recorded as a complete/incomplete resection of the contrast-enhancing tumor part. Results Median overall survival (OS) was 9.0 months (95% CI 7.1-10.9 months) after first re-resection. Preoperative KPSS > 80% (P < 0.001) and EOR (P = 0.013) were associated with significantly improved survival in univariate analysis. Including these factors in multivariate analysis, preoperative KPSS < 80 (HR 2.002 [95% CI: 1.246-3.216], P = 0.004) and EOR are the only significant prognostic factor (HR 1.611 [95% CI: 1.036-2.505], P = 0.034). ACCI was not shown as a prognostic factor in univariate and multivariate analyses. Conclusion For patients with surgery for recurrent glioblastoma, the ACCI does not add further information about patient's prognosis besides the well-established KPSS and extent of resection.
AU  - Barz, M.*
AU  - Bette, S.*
AU  - Janssen, I.*
AU  - Aftahy, A.K.*
AU  - Huber, T.*
AU  - Liesche-Starnecker, F.*
AU  - Ryang, Y.*
AU  - Wiestler, B.*
AU  - Combs, S.E.
AU  - Meyer, B.*
AU  - Gempt, J.*
C1  - 64155
C2  - 52093
CY  - Campus, 4 Crinan St, London N1 9xw, England
TI  - Age-adjusted Charlson comorbidity index in recurrent glioblastoma: A new prognostic factor?
JO  - BMC Neurology
VL  - 22
IS  - 1
PB  - Bmc
PY  - 2022
ER  - 

TY  - JOUR
AB  - BACKGROUND: DYT6 dystonia belongs to a group of isolated, genetically determined, generalized dystonia associated with mutations in the THAP1 gene. CASE PRESENTATION: We present the case of a young patient with DYT6 dystonia associated with a newly discovered c14G>A (p.Cys5Tyr) mutation in the THAP1 gene. We describe the clinical phenotype of this new mutation, effect of pallidal deep brain stimulation (DBS), which was accompanied by two rare postimplantation complications: an early intracerebral hemorrhage and delayed epileptic seizures. Among the published case reports of patients with DYT6 dystonia, the mentioned complications have not been described so far. CONCLUSIONS: DBS in the case of DYT6 dystonia is a challenge to thoroughly consider possible therapeutic benefits and potential risks associated with surgery. Genetic heterogeneity of the disease may also play an important role in predicting the development of the clinical phenotype as well as the effect of treatment including DBS. Therefore, it is beneficial to analyze the genetic and clinical relationships of DYT6 dystonia.
AU  - Grofik, M.*
AU  - Cibulka, M.*
AU  - Oleksakova, J.*
AU  - Koprusakova, M.T.*
AU  - Galanda, T.*
AU  - Necpál, J.*
AU  - Jungova, P.*
AU  - Kurca, E.*
AU  - Winkelmann, J.
AU  - Zech, M.
AU  - Jech, R.*
C1  - 66223
C2  - 52875
TI  - A case of novel DYT6 dystonia variant with serious complications after deep brain stimulation therapy: A case report.
JO  - BMC Neurology
VL  - 22
IS  - 1
PY  - 2022
ER  - 

TY  - JOUR
AB  - Following publication of the original article [1], the authors reported an error in author group. Author M. Zech should be affiliated to affiliations 6 and 7. The original article [1] has been updated.
AU  - Grofik, M.*
AU  - Cibulka, M.*
AU  - Oleksakova, J.*
AU  - Turčanova Koprušakova, M.*
AU  - Galanda, T.*
AU  - Necpál, J.*
AU  - Jungova, P.*
AU  - Kurca, E.*
AU  - Winkelmann, J.
AU  - Zech, M.
AU  - Jech, R.*
C1  - 66613
C2  - 53245
TI  - Correction: A case of novel DYT6 dystonia variant with serious complications after deep brain stimulation therapy: A case report.
JO  - BMC Neurology
VL  - 22
IS  - 1
PY  - 2022
ER  - 

TY  - JOUR
AB  - Backround: Median overall survival (OS) after diagnosis of glioblastoma (GBM) remains 15 months amongst patients receiving aggressive surgical resection, chemotherapy and irradiation. Treatment of patients with a poor preoperative Karnofsky Performance Status Scale (KPSS) is still controversial. Therefore, we retrospectively assessed the outcome after surgical treatment in patients with a KPSS of ≤60%. Methods: We retrospectively included patients with a de-novo glioblastoma WHO °IV and preoperative KPSS ≤60%, who underwent surgery at two neurosurgical centres between September 2006 and March 2016. We recorded pre- and postoperative tumour volume, pre- and postoperative KPSS, OS, age and MGMT promoter status. Results: One hundred twenty-three patients (58 females/65 males, mean age 67.4 ± 13.4 years) met the inclusion criteria. Seventy-five of the 123 patients (61%) underwent surgical resection. 48/123 patients (39%) received a biopsy. The median preoperative and postoperative tumour volume of all patients was 33.0 ± 31.3 cm3 (IR 15.0–56.5cm3) and 3.1 ± 23.8 cm3 (IR 0.2–15.0 cm3), respectively. The median KPSS was 60% (range 20–60%) preoperatively and 50% (range 0–80%) postoperatively. Patients who received a biopsy showed a median OS for patients who received a biopsy only was 3.0 months (95% CI 2.0–4.0 months), compared to patients who had a resection and had a median OS of 8 months (95% CI 3.1–12.9 months). Age (p < 0.001, HR: 1.045 [95% CI 1.022–1.068]), postoperative tumour volume (p = 0.02, HR: 1.016 [95% CI 1.002–1.029]) and MGMT promotor status (p = 0.016, HR: 0.473 [95% CI 0.257–0.871]) were statistically significant in multivariate analysis. In subgroup analyses only age was shown as a significant prognostic factor in multivariate analyses for patients receiving surgery (p < 0.001, HR: 1.046 [95% CI 1.022–1.072]). In the biopsy group no significant prognostic factors were shown in multivariate analysis. Conclusion: GBM patients with a preoperative KPSS of ≤60% might profit from surgical reduction of tumour burden.
AU  - Barz, M.*
AU  - Gerhardt, J.*
AU  - Bette, S.*
AU  - Aftahy, A.K.*
AU  - Huber, T.*
AU  - Combs, S.E.
AU  - Ryang, Y.M.*
AU  - Wiestler, B.*
AU  - Skardelly, M.*
AU  - Gepfner-Tuma, I.*
AU  - Behling, F.*
AU  - Schmidt-Graf, F.*
AU  - Meyer, B.*
AU  - Gempt, J.*
C1  - 63568
C2  - 51591
CY  - Campus, 4 Crinan St, London N1 9xw, England
TI  - Prognostic value of tumour volume in patients with a poor Karnofsky performance status scale – a bicentric retrospective study.
JO  - BMC Neurology
VL  - 21
IS  - 1
PB  - Bmc
PY  - 2021
ER  - 

TY  - JOUR
AB  - BACKGROUND: Action myoclonus-renal failure syndrome is a hereditary form of progressive myoclonus epilepsy associated with renal failure. It is considered to be an autosomal-recessive disease related to loss-of-function mutations in SCARB2. We studied a German AMRF family, additionally showing signs of demyelinating polyneuropathy and dilated cardiomyopathy. To test the hypothesis whether isolated appearance of individual AMRF syndrome features could be related to heterozygote SCARB2 mutations, we screened for SCARB2 mutations in unrelated patients showing isolated AMRF features. METHODS: In the AMRF family all exons of SCARB2 were analyzed by Sanger sequencing. The mutation screening of unrelated patients with isolated AMRF features affected by either epilepsy (n= 103, progressive myoclonus epilepsy or generalized epilepsy), demyelinating polyneuropathy (n= 103), renal failure (n= 192) or dilated cardiomyopathy (n= 85) was performed as high resolution melting curve analysis of the SCARB2 exons. RESULTS: A novel homozygous 1bp deletion (c.111delC) in SCARB2 was found by sequencing three affected homozygous siblings of the affected family. A heterozygous sister showed generalized seizures and reduction of nerve conduction velocity in her legs. No mutations were found in the epilepsy, renal failure or dilated cardiomyopathy samples. In the polyneuropathy sample two individuals with demyelinating disease were found to be carriers of a SCARB2 frameshift mutation (c.666delCCTTA).CONCLUSIONS: Our findings indicate that demyelinating polyneuropathy and dilated cardiomyopathy are part of the action myoclonus-renal failure syndrome. Moreover, they raise the possibility that in rare cases heterozygous SCARB2 mutations may be associated with PNP features.
AU  - Hopfner, F.
AU  - Schormair, B.
AU  - Knauf, F.
AU  - Berthele, A.*
AU  - Tölle, T.R.*
AU  - Baron, R.*
AU  - Maier, C.*
AU  - Treede, R.D.*
AU  - Binder, A.*
AU  - Sommer, C.*
AU  - Maihoefner, C.*
AU  - Kunz, W.*
AU  - Zimprich, F.*
AU  - Heemann, U.*
AU  - Pfeufer, A.
AU  - Näbauer, M.*
AU  - Kääb, S.*
AU  - Nowak, B.*
AU  - Gieger, C.
AU  - Lichtner, P.
AU  - Trenkwalder, C.*
AU  - Oexle, K.*
AU  - Winkelmann, J.
C1  - 5620
C2  - 29099
TI  - Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features.
JO  - BMC Neurology
VL  - 11
IS  - 1
PB  - BioMed Central
PY  - 2011
ER  - 

TY  - JOUR
AB  - The number of individuals at risk for dementia will probably increase in ageing societies as will the array of preventive and therapeutic options, both however within limited economic resources. For economic and medical purposes valid instruments are required to assess disease processes and the efficacy of therapeutic interventions for different forms and stages of illness. In principal, the impact of illness and success of an intervention can be assessed with biomedical variables, e.g. severity of symptoms or frequency of complications of a disease. However, this does not allow clear judgement on clinical relevance or comparison across different diseases. DISCUSSION: Outcome model variables such as quality of life (QoL) or health care resource utilization require the patient to appraise their own well-being or third parties to set preferences. In Alzheimer's disease and other dementias the evaluation process performed by the patient is subject to the disease process itself because over progress of the disease neuroanatomical structures are affected that mediate evaluation processes. SUMMARY: Published research and methodological considerations thus lead to the conclusion that current QoL-instruments, which have been useful in other contexts, are ill-suited and insufficiently validated to play a major role in dementia research, decision making and resource allocation. New models integrating biomedical and outcome variables need to be developed in order to meet the upcoming medical and economic challenges.
AU  - Riepe, M.W.*
AU  - Mittendorf, T.*
AU  - Förstl, H.*
AU  - Frölich, L.*
AU  - Haupt, M.*
AU  - Leidl, R.
AU  - Vauth, C.*
AU  - von der Schulenburg, M.G.*
C1  - 1496
C2  - 26673
SP  - 47
TI  - Quality of life as an outcome in Alzheimer's disease and other dementias - obstacles and goals.
JO  - BMC Neurology
VL  - 9
PB  - Biomed Central Ltd
PY  - 2009
ER  -