Neurological Research and Practice最新文献

Slow orthostatic tremor is an extremely rare movement disorder with relatively low-frequency tremor (< 13 Hz) in the legs and trunk, which is evoked by standing. There is still much controversy regarding its precise etiology. Here we present a 57 year-old female patient with a slow orthostatic tremor variant who experienced progressive gait disturbances since six years due to isolated trunk tremor. Potential symptomatic causes of tremor and other neurological co-morbidities were excluded through an exenstive clinical, laboratoy and imaging work-up. Subsequently, a combined treatment with propranolol and primidone was started, which resulted in almost complete resolution of the trunk tremor. Given that the slow trunk tremor in this patient almost completely resolved after therapy with a low-dose propranolol and primidone, considered first line drugs for the treatment of essential tremor, this case illustrates that isolated orthostatic trunk tremor may occur as a rare variant of essential tremor.

Background: We sought to determine the utility of PET-MRI in diagnosing Idiopathic Inflammatory Myositis (IIM), and look for association between FDG uptake and clinical, pathological and laboratory parameters.

Methods: A retrospective, observational study was conducted on IIM patients having positive serum autoantibodies and who underwent PET-MRI (3-Tesla SIEMENS Biograph MR scanner) between 2017 and 2021. Thirty patients who underwent PET-MRI to detect systemic metastasis without muscle involvement formed the control group.

Results: In the IIM cohort, female: male sex ratio was 1.73, mean age at diagnosis was 40.33 years, and the mean duration of illness was 7 months. 33.33% of patients had severe limb weakness. Mi2B (43.33%), Mi2A (43.33%), PL-7(10%), PL-12(6.67%), SRP (16.67%), Tif1gamma (3.33%), NxP2 (3.33%), Ro-52(40%), PM-Scl, U1-RNP, ANA (26.67%) were the serum autoantibodies identified. Using SUV max Ratio to quantify FDG uptake, PET-MRI showed a sensitivity of 100% with 93.3% specificity in diagnosing IIM.FDG uptake was maximum in proximal lower limb region followed by proximal upper limb. Multivariate regression analysis showed that the severity of muscle weakness, serum Mi2B antibody positivity and serum creatinine kinase levels had a significant positive correlation with FDG uptake (value of 0.005, 0.043, 0.042, respectively for whole-body FDG uptake). FDG uptake also showed good correlation with histopathological features and muscle MRI, but there was no significant association with treatment response. Three female patients in our cohort had primary malignancy involving the breast, uterus, and cervix.

Conclusions: PET-MRI is a promising diagnostic modality for IIM. PET-MRI reflects the severity of muscle inflammation, showing good association with various clinical/laboratory parameters, histopathology, and muscle MRI. Parameters associated with severe muscle inflammation in PET-MRI-clinical severity of muscle weakness, Mi2B positivity, and serum creatine kinase levels-may be used as clinical/laboratory markers of disease severity in IIM. PET-MRI has the added advantage of detection of systemic malignancy.

Background: Several non-motor symptoms are present in Parkinson's disease (PD), including increasing prevalence rates of cognitive impairment during disease progression. Due to its multifaceted nature, PD management involves pharmacotherapy and non-pharmacotherapies, ideally in a multidisciplinary manner. Evidence regarding the impact of multidisciplinary interventions on motor and non-motor symptoms, as well as its impact on quality of life and daily activities of living, is limited.

Methods: The aim of this real-life exploratory study was to investigate the effectiveness of a three-week clinical multidisciplinary Parkinson complex therapy (Parkinson-Komplexbehandlung, PKB), which is available as standard care for PD in the German health care system. Especially, the effect of neuropsychological attention training of 40 patients with PD was analyzed concerning their impact on motor abilities (UPDRS-III ON state), cognitive profiles and reported depressive symptoms and psychosocial function.

Results: Neuropsychological data showed an improvement in response inhibition after intervention (z = - 2.611, p = 0.009). Additionally, improvements in verbal memory (z = - 2.318, p = 0.020), motor functions (UPDRS-III-score; z = - 5.163, p < 0.001) and reduction in depression symptoms (BDI-II) (z = - 2.944, p = 0.003) were also present.

Conclusions: Patients with PD benefited from this multidisciplinary Parkinson complex therapy in terms of improved cognitive functioning, including attention and verbal learning, motor symptoms and emotional well-being.

Background: Cervical dystonia (CD) is characterized by involuntary contractions of the cervical muscles. Data on long-term effectiveness of deep brain stimulation (DBS) are rare. The aim of this study was to evaluate the longitudinal ten years treatment efficacy of DBS in the globus pallidus internus (GPI).

Methods: A retrospective single-center data analysis was performed on patients with idiopathic CD, who were treated with GPI DBS for at least 10 years. TWSTR severity score and individual sub-items were compared between pre and post DBS surgery (n = 15) over time.

Results: There was a significant and persistent positive effect regarding the severity of TWSTRS between the conditions immediately before and 1, 5, and 10 years after establishment of GPI DBS (mean difference: 6.6-7 ± 1.6). Patients with increasing CD complexity showed a poorer response to established treatment forms, such as injection of botulinum toxin and were thus DBS candidates. Especially a predominant torticollis was significantly improved by DBS.

Conclusion: GPI DBS is an effective procedure especially in severely affected patients with a positive 10-year outcome. It should be considered in more complex CD-forms or predominant torticollis.

Background: This study aims to characterize the impact of apraxia and visuospatial neglect on stroke patients' cognitive and functional outcomes during early rehabilitation. Prior work implies an unfavorable effect of visuospatial neglect on rehabilitation; however, previous findings remain ambiguous and primarily considered long-term effects. Even less is known about the impact of apraxia on rehabilitation outcomes. Although clinicians agree on the significance of the first few weeks after stroke for the course of rehabilitation, studies exploring the impact of neglect and apraxia in this early rehabilitation period remain scarce.

Methods: Based on a screening of 515 hospitalized stroke patients from an early rehabilitation ward, 150 stroke patients (75 left-hemispheric strokes, 75 right hemispheric strokes) fulfilled the inclusion criteria and were enrolled in this observational, longitudinal study. The patients' cognitive and functional statuses were documented at admission to the early rehabilitation ward and discharge. Also, detailed apraxia and neglect assessments were performed at midterm. The predictive values of age and apraxia and neglect severity (as reflected in two components from a principal component analysis of the neglect and apraxia assessments) for cognitive and functional outcomes at discharge were evaluated by multiple regression analyses.

Results: Besides the expected influence of the respective variables at admission, we observed a significant effect of apraxia severity on the cognitive outcome at discharge. Moreover, neglect severity predicted the Early Rehabilitation Barthel Index (Frühreha-Barthel-Index) at discharge. Supplementary moderator analysis revealed a differential effect of neglect severity on the cognitive outcome depending on the affected hemisphere.

Conclusion: Data indicate a strong association between apraxia and visuospatial neglect and early rehabilitation outcomes after stroke.

Background: To mitigate the potential consequences of the coronavirus disease 2019 (COVID-19) pandemic on public life, the German Federal Government and Ministry of Health enacted a strict lockdown protocol on March 16, 2020. This study aimed to evaluate the impact of the COVID-19 pandemic on physical and mental health status and the supply of medical care and medications for people with epilepsy (PWE) in Germany.

Methods: The Epi2020 study was a large, multicenter study focused on different healthcare aspects of adults with epilepsy. In addition to clinical and demographic characteristics, patients were asked to answer a questionnaire on the impact of the first wave of the COVID-19 pandemic between March and May 2020. Furthermore, the population-based number of epilepsy-related admissions in Hessen was evaluated for the January-June periods of 2017-2020 to detect pandemic-related changes.

Results: During the first wave of the pandemic, 41.6% of PWE reported a negative impact on their mental health, while only a minority reported worsening of their seizure situation. Mental and physical health were significantly more negatively affected in women than men with epilepsy and in PWE without regular employment. Moreover, difficulties in ensuring the supply of sanitary products (25.8%) and antiseizure medications (ASMs; 19.9%) affected PWE during the first lockdown; no significant difference regarding these impacts between men and women or between people with and without employment was observed. The number of epilepsy-related admissions decreased significantly during the first wave.

Conclusions: This analysis provides an overview of the general and medical care of epilepsy patients during the COVID-19 pandemic. PWE in our cohort frequently reported psychosocial distress during the first wave of the pandemic, with significant adverse effects on mental and physical health. Women and people without permanent jobs especially reported distress due to the pandemic. The COVID-19 pandemic has added to the mental health burden and barriers to accessing medication and medical services, as self-reported by patients and verified in population-based data on hospital admissions.

Trial registration: German Clinical Trials Register (DRKS), DRKS00022024. Registered October 2, 2020, http://www.drks.de/DRKS00022024.

Autoimmune-mediated neural inflammation can affect both the central and the peripheral nervous system. Recently, antibodies against the peripheral membrane protein flotillin have been described in patients with multiple sclerosis, limbic encephalitis and sensorimotor demyelinating polyneuropathy. Here, we report the case of a 75-year-old male patient presenting with slowly progressive muscle weakness, as well as mild cognitive impairment. MR neurography of the leg showed fascicular enlargement and inflammation of ischiadic nerve fibers, while cerebral MRI showed bilateral hippocampal atrophy. Serological testing revealed positive anti-flotillin-1/2 antibodies in serum (1:100) and CSF (1:1). Assuming autoimmune anti-flotillin antibody-associated neurogenic muscle atrophy, the patient was treated with immunoglobulins, which led to a clinical improvement of muscle weakness. In light of the positive anti-flotillin antibodies and the local CNS immunoglobulin production, the mild cognitive impairment and hippocampal atrophy were interpreted as a cerebral involvement in the sense of a subclinical limbic encephalitis. We conclude that anti-flotillin antibodies can be associated with central and peripheral nervous system autoimmunity and should be considered in diagnostical workup.

Background: Oral anticoagulation (OAC) is the mainstay of secondary prevention in ischemic stroke patients with atrial fibrillation (AF). However, in AF patients with large vessel occlusion stroke treated by endovascular therapy (ET) and acute carotid artery stenting (CAS), the optimal antithrombotic medication remains unclear.

Methods: This is a subgroup analysis of the German Stroke Registry-Endovascular Treatment (GSR-ET), a prospective multicenter cohort of patients with large vessel occlusion stroke undergoing ET. Patients with AF and CAS during ET were included. We analyzed baseline and periprocedural characteristics, antithrombotic strategies and functional outcome at 90 days.

Results: Among 6635 patients in the registry, a total of 82 patients (1.2%, age 77.9 ± 8.0 years, 39% female) with AF and extracranial CAS during ET were included. Antithrombotic medication at admission, during ET, postprocedural and at discharge was highly variable and overall mortality in hospital (21%) and at 90 days (39%) was high. Among discharged patients (n = 65), most frequent antithrombotic regimes were dual antiplatelet therapy (DAPT, 37%), single APT + OAC (25%) and DAPT + OAC (20%). Comparing DAPT to single or dual APT + OAC, clinical characteristics at discharge were similar (median NIHSS 7.5 [interquartile range, 3-10.5] vs 7 [4-11], p = 0.73, mRS 4 [IQR 3-4] vs. 4 [IQR 3-5], p = 0.79), but 90-day mortality was higher without OAC (32 vs 4%, p = 0.02).

Conclusions: In AF patients who underwent ET and CAS, 90-day mortality was higher in patients not receiving OAC.

Registration: https://www.

Clinicaltrials: gov ; Unique identifier: NCT03356392.

Background: With the optimization of medical care structures and the rapid progress in the development of new therapeutic methods, an increase in life expectancy is observed in patients with neuromuscular diseases. This leads to an expansion of the phenotypic spectrum, whereby new or previously less relevant disease manifestations in different organ systems gain more importance. The care of adolescents and young adults with neuromuscular diseases, therefore, requires increasingly close interdisciplinary collaboration within neuromuscular centers.

Research question: How can the transition process from pediatric to adult care be structured so that the individual disciplines are efficiently integrated into the complex treatment and care process, and the patients' quality of life is improved?

Material and methods: A structured transition process was established at the University Hospital in Essen, Germany. Exemplarily, a comparable care concept was developed based on Pompe disease, Duchenne muscular dystrophy, and juvenile myasthenia gravis comprising four elements: (1) With the introduction of cross-department standard operating procedures, the logistical processes, as well as the diagnostic and therapeutic measures, are uniformly coordinated, and the transition process is bindingly defined. (2) To ensure a seamless transition, young patients are seen with their parents during joint consultations before they reach their 17th birthday. This creates an opportunity for patients to get to know the subsequent department structure and build a lasting relationship of trust. (3) A quarterly "transition board" regularly brings together the participating disciplines from pediatric and adult care systems for a case-related interdisciplinary exchange and continuous optimization of the transition process. (4) A cross-department "Transition Database", in which medical findings and parameters are recorded, was implemented as a common information platform and database.

Conclusion: The Essen Transition Model aims to close the gap in care for young patients with neuromuscular diseases during the critical transition from pediatric to adult medicine and to create a successful continuation of treatment in adulthood.

Background: Brain tumor related epilepsy (BTRE) is a common complication of cerebral tumors and its incidence is highly dependent on the type of tumor, ranging from 10-15% in brain metastases to > 80% in low grade gliomas. Clinical management is challenging and has to take into account aspects beyond the treatment of non-tumoral epilepsy.

Main body: Increasing knowledge about the pathophysiology of BTRE, particularly on glutamatergic mechanisms of oncogenesis and epileptogenesis, might influence management of anti-tumor and BTRE treatment in the future. The first seizure implies the diagnosis of epilepsy in patients with brain tumors. Due to the lack of prospective randomized trials in BTRE, general recommendations for focal epilepsies currently apply concerning the initiation of antiseizure medication (ASM). Non-enzyme inducing ASM is preferable. Prospective trials are needed to evaluate, if AMPA inhibitors like perampanel possess anti-tumor effects. ASM withdrawal has to be weighed very carefully against the risk of seizure recurrence, but can be achievable in selected patients. Permission to drive is possible for some patients with BTRE under well-defined conditions, but requires thorough neurological, radiological, ophthalmological and neuropsychological examination.

Conclusion: An evolving knowledge on pathophysiology of BTRE might influence future therapy. Randomized trials on ASM in BTRE with reliable endpoints are needed. Management of withdrawal of ASMs and permission to drive demands thorough diagnostic as well as neurooncological and epileptological expertise.