Deutsche Zeitschrift für Nervenheilkunde

Monitoring disease burden is an unmeet need in multiple sclerosis (MS). Identifying patients at high risk of disability progression will be useful for improving clinical-therapeutic decisions in clinical routine. To evaluate the role of visual field testing in non-optic neuritis eyes (non-ON eyes) as a biomarker of disability progression in MS. In 109 patients of the MS-VisualPath cohort, we evaluated the association between visual field abnormalities and global and cognitive disability markers and brain and retinal imaging markers of neuroaxonal injury using linear regression models adjusted for sex, age, disease duration and use of disease-modifying therapies. We evaluated the risk of disability progression associated to have baseline impaired visual field after 3 years of follow-up. Sixty-two percent of patients showed visual field defects in non-ON eyes. Visual field mean deviation was statistically associated with global disability; brain (normalized brain parenchymal, gray matter volume and lesion load) and retinal (peripapillary retinal nerve fiber layer thickness and macular ganglion cell complex thickness) markers of neuroaxonal damage. Patients with impaired visual field had statistically significative greater disability, lower normalized brain parenchymal volume and higher lesion volume than patients with normal visual field testing. MS patients with baseline impaired VF tripled the risk of disability progression during follow-up [OR = 3.35; 95 % CI (1.10–10.19); p = 0.033]. The association of visual field impairment with greater disability and neuroaxonal injury and higher risk of disability progression suggest that VF could be used to monitor MS disease burden.

In Fortführung der Untersuchungen von Speckmann u. Kleinbaum (Bd. 167 dieser Z.) wurde bestätigt, daß die Hyperalgesie der Headschen Zonen bei inneren Erkrankungen — beurteilt mit dem statistischen Flächenschwellenverfahren nach Franz und der Prüfung auf Funktionswandel nach Stein — nur durch Antihistamine in kleinen Dosen electiv abgeschwächt oder sogar ausgelöscht werden kann. Acetylcholin, Atropin und Adrenalin beeinflußten dagegen die Hyperalgesie gar nicht, während Novocain, Pendiomid i.v. und Aspirin per os einen mehr oder weniger ausgeprägten allgemein hypästhetischen und hypalgetischen Effekt auch auf die gesunde Haut hatten. Unter Berücksichtigung der von Gaddum vertretenen Auffassung bedeuten diese Untersuchungsergebnisse eine weitere Bestätigung des von Speckmann u. Kleinbaum gezogenen Schlusses, daß Substanzen mit histaminartiger Wirkung bei dem nervösen Auslösungsvorgang der Headschen Zonen eine ausschlaggebende Bedeutung zukommt. Neuere Theorien über die Entstehung der Headschen Zonen werden kurz besprochen und unter Hinweis auf die Arbeiten von Kwiatkowski, U. S. v. Euler u. a. erwogen, ob dabei möglicherweise echte histaminergische Nerven beteiligt sind.

The aim of this study is to support the use of biomarkers in the diagnosis of mild cognitive impairment (MCI) due to Alzheimer’s disease (AD) according to the revised NIA-AA diagnostic criteria. We compared clinical features and conversion to AD and other dementias among groups of MCI patients with different abnormal biomarker profiles. In this study, we enrolled 58 patients with MCI, and for each of them AD biomarkers (CSF Abeta42 and tau, temporoparietal hypometabolism on 18F-FDG PET, and hippocampal volume) were collected. Patients were divided into three groups: (i) no abnormal biomarker, (ii) AD biomarker pattern (including three subgroups of early = only abnormal Abeta42, intermediate = abnormal Abeta42 and FDG PET or tau, and late = abnormal Abeta42, FDG PET or tau, and HV), and (iii) any other biomarker combination. MCI patients with AD biomarker pattern had lower behavioural disturbances than patients with any other biomarker combination (p < 0.0005). This group also showed lower performance on verbal and non-verbal memory than the other two groups (p = 0.07 and p = 0.004, respectively). Within the three subgroups with AD biomarker patterns we observed a significant trend toward a higher rate of conversion to dementia (p for trend = 0.006). With regard to dementia conversion, 100 % of patients with an AD biomarker pattern developed AD, but none of the patients with no abnormal biomarker and 27 % of patients with any other biomarker combination (p = 0.002) did so. We also described some clinical cases representative for each of these three groups. The results of this study provide evidence in favour of the use of biomarkers for the diagnosis of MCI due to AD, in line with recently published research criteria.

Status epilepticus (SE) can occur in persons with or without epilepsy and is associated with high morbidity and mortality. This survey aimed to record self-reported frequency of SE in persons with epilepsy, its association with clinical characteristics and patient level of information on SE and rescue medication. 251 persons with epilepsy at a tertiary epilepsy center were included in the study. 87 (35%) had a history of SE defined as seizure duration of more than 5 min. These patients were less likely to be seizure-free, and had a higher number of present and past anti-seizure medication. Female sex, cognitive disability, younger age at epilepsy onset, defined epilepsy etiology, and focal epilepsy were associated with a history of SE. On Cox regression analysis, female sex, defined etiology and focal classification remained significant. 67% stated that they had information about prolonged seizures, and 75% knew about rescue medication. 85% found it desirable to receive information about SE at the time of initial diagnosis of epilepsy, but only 16% had been offered such information at the time. SE is frequent among persons with epilepsy and there remain unmet needs regarding patient education.

DNA of 35 patients with Duchenne muscular dystrophy (DMD) from 27 unrelated families from the northern part of GDR, Czechoslovakia and Hungary were analysed by means of 9 genomic probes and cDNA probes Cf 23a and Cf 56a, which detect exons of the central part of the DMD gene. Of the unrelated DMD patients, 63% have deletions for one or more intragenic and/or cDNA probes and 33% have deletions for genomic probes, mostly for pERT 87 (15%) and P 20 (15%). 48% of the DMD patients have deletions for one or more exon regions detected by Cf 56a and Cf 23a. The deletions were mapped. The genomic probe P 20 and the distal part of the cDNA probe Cf 23a detected the same part in the centre of the DMD gene. The deletions are heterogeneous in size and extent. In patients of the same family, identical deletions were detected in the DMD gene. The detection of deletions is useful for prenatal diagnosis and carrier detection.

This study aimed to investigate the incidence of myotonic dystrophy type 1 (DM1) and the status of multi-organ involvement. This was a nationwide, population-based, cohort study using data from the Korean National Health Claims database. All patients with DM1 from the entire population aged ≤ 80 years were included. To identify possible systemic diseases along with DM1, we searched for concurrent codes for systemic diseases. To assess the recent status of systemic evaluation, concurrent codes for various diagnostic and treatment modalities were collected. Cumulative incidence during 2016–2019 was first evaluated then systemic evaluation for those patients was assessed during 2010–2019. A total of 387 patients (47.8% men) during the recent 4-year study period (2016–2019) were diagnosed with DM1. The cumulative incidence in the general population was 0.77 (95% confidence interval: 0.76–0.77) per 100,000 persons. In newly developed incidental cases, cardiac involvement developed in 51.2%, pneumonia in 30.7%, diabetes in 26.9%, brain involvement in 18.1%, cataract in 13.7%, and cancers in 5.4% of total patients. Electrocardiography was performed in 93.8%, Holter in 33.9%, and echocardiography in 31.3% of the total patients for cardiac evaluation. The incidence estimates of DM1 in the Asian population were lower than those of Caucasians. This study provides the real situation of screening and treatment for systemic diseases related to DM1. These detailed estimates could promote an understanding of the current disease status and allow for appropriate planning within the healthcare system.

In 15 patients with symptomatic hydrocephalus, pressure-induced morphological changes of the brain and the function of callosal and corticospinal fibres were studied. Morphometry of the corpus callosum (CC) was performed on midsagittal MR images. Focal transcranial magnetic stimulation of the motor cortex was used to assess simultaneously excitatory motor responses in contralateral hand muscle (corticospinally mediated effect) and inhibition of tonic EMG activity in ipsilateral hand muscles (transcallosal inhibition (TI) of the contralateral motor cortex). Before a shunt operation, the midsagittal area of the CC was reduced by 34% on average. The height and, to a lesser degree the length, of the CC were increased before the shunt operation. Thresholds and central motor latencies of corticospinally mediated responses were normal, response amplitudes were smaller than in normal subjects. Motor thresholds increased from 38, SD 5 to 52, SD 8% (P<0.01) within 7 days after ventricular drainage, reflecting the increase in the distance between stimulation coil and brain. The threshold increase paralleled a restoration of normal anatomical conditions within 7 days after shunt operation and the improvement of motor symptoms and might be a predictor of successful decompression. Transcallosal inhibition could be elicited in all patients. The measurements of TI lay within the normal range except the duration, which was prolonged in 73% of 15 patients before shunt operation as a probable indicator of an increased dispersion of callosal conduction. The normalization of the area and shape of the CC after shunt operation and the normal corticospinal and callosal conduction times exclude degeneration, demyelination or functional block of a large proportion of callosal or corticospinal tract fibres or a substantial loss of nerve cells in motor cortex.