Neurological research and practice最新文献

Background: Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations in the α-galactosidase A (GLA) gene, leading to an increased risk for white matter lesion (WML), stroke and cerebral microbleeds. Utilizing MRI data from the prospective observational FAMOUS study we assessed MRI characteristics of FD and treatment effects of migalastat.

Methods: 19 patients with pathogenic (PV) and 14 patients with likely benign genetic variants (LBV: p.A143T, p.D313Y, and p.S126G) underwent MRI at baseline and 24 month-follow up under migalastat treatment. WML load, using Fazekas and Scheltens scores, basilar artery diameter (BAD), and the occurrence of strokes and cerebral microbleeds were assessed. Patients were compared by variant type (PV/LBV) and presence of arterial hypertension.

Results: WML load was low to moderate and remained stable. Four PV patients showed progress by visual examination. WML load was similar between PV and LBV groups. Patients with arterial hypertension had a higher Scheltens score. PV patients had higher BAD. No patient showed cerebral microbleeds. One PV patient with coincident multiple sclerosis demonstrated a positive central vein sign.

Conclusion: Our data suggest that microangiopathic lesion load remains relatively stable under migalastat. Antihypertensive therapy may be important to reduce WML in FD. Further studies are needed to assess the cerebral effect of migalastat therapy.

Background: Acute spontaneous intracerebral hemorrhage (ICH) is a life-threatening neurological emergency that afflicts more than 3 million people worldwide each year and has the highest mortality and morbidity of all stroke types. Acute care of ICH patients is targeted towards reducing secondary brain injury by preventing hematoma expansion and alleviating elevated intracranial pressure (ICP) from hydrocephalus, midline shift, brain compression and perihematomal edema.

Aim: To provide a practical standard operating procedure (SOP) for the initial evaluation and management of acute spontaneous ICH patients.

Method: This SOP was developed using the latest clinical guidelines and relevant studies on the management of ICH patients along with the authors' own experience and judgment.

Results: Emergent care of ICH patients begins with stabilizing vital functions, rapid systolic blood pressure lowering and simultaneous reversal of any coagulopathy. Code ICH is a novel proposal to incorporate time-based bundled care to ensure timely institution of these therapies within 60 min of presentation. Clinical signs of elevated ICP and herniation should warrant prompt hyperosmolar therapy and emergent ventricular drainage for hydrocephalus. Emergent craniotomy or decompressive craniectomy for mass effect can be a lifesaving measure but may not improve functional outcomes. Early minimally invasive surgical interventions to promote clearance of intraventricular and parenchymal hemorrhage hold promise in not only improving survival but also promoting long-term functional improvement. Most importantly, early therapeutic nihilism must be avoided, and prognostication should be delayed for the first few days to allow time for recovery.

Conclusion: Avoiding early pessimism and promoting emergent aggressive bundled care for ICH patients can promote favorable outcomes. Minimally invasive surgical interventions to promote prompt blood clearance should be considered to improve long-term recovery.

Background: Paraneoplastic Lambert-Eaton myasthenic syndrome (pLEMS) is well-established in small-cell lung cancer (SCLC), but data on other malignancies are limited. We aimed to define the clinical phenotype of pLEMS in non-SCLC cancers (non-SCLC-pLEMS) relative to SCLC-associated LEMS (SCLC-pLEMS) and autoimmune LEMS (aiLEMS).

Methods: Retrospective analysis was conducted to compare patients with SCLC-pLEMS, aiLEMS and non-SCLC-pLEMS from the European LEMS registry, and further non-SCLC-pLEMS cases were identified by a systematic review following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines.

Results: The registry included 72 aiLEMS, 12 SCLC-pLEMS, and 11 non-SCLC-pLEMS patients. LEMS preceded cancer diagnosis in 33% of SCLC-pLEMS (median 2 months) and 30% of non-SCLC-pLEMS (median 15 months), was concurrent in 25% and 30% and followed tumor diagnosis in the remainder. At study enrollement, Quantitative Myasthenia Gravis (QMG) scores were higher in SCLC-pLEMS (median 12, range 1-24) with recent tumor therapy initiation (median 3 months), and lower in non-SCLC-pLEMS (median 6, range 0-19), with longer (median 12 months) or completed tumor therapy, and aiLEMS (median 5, range 0-23). During follow-up, QMG improved with tumor therapy, and worsened with recurrence/progression in pLEMS groups. After completion of cancer treatment, QMG values in SCLC-pLEMS (median 6, range 0-19) and non-SCLC-pLEMS (median 5, range 1-22) were comparable to each other and to aiLEMS (median 7, range 0-29). Ataxia was significantly more frequent in SCLC-pLEMS (64%) and non-SCLC-pLEMS (55%) than in aiLEMS (19%, p = 0.006 and p = 0.024). Another 115 literature-reported non-SCLC-pLEMS cases were identified (total n = 126, comprising 137 tumors). Most common were non-small cell lung cancer (NSCLC) (n = 25, 18%), Merkel cell carcinoma (n = 18, 13%) and lymphoproliferative disorders (n = 15, 11%). In 52 literature-reported LEMS patients with outcome data, 88% partially or fully recovered after tumor therapy, leaving the paraneoplastic origin uncertain in many.

Conclusions: Our results suggest that, beyond SCLC, other tumors can trigger pLEMS. Compared with aiLEMS, non-SCLC-pLEMS and SCLC-pLEMS showed a higher frequency of ataxia, and LEMS severity tended to reflect tumor treatment status, while disease severity becomes comparable across subtypes after cancer therapy. The frequent improvement of symptoms with tumor-directed treatment supports extended screening beyond SCLC and timely management.

Background: Telemedicine is well established in acute stroke care and significantly contributes to widespread access to treatment. In intensive care, telemedicine is increasingly used to reduce mortality and complications. The German Society of Anesthesiology and Intensive Care Medicine (DGAI) also recommends telemedical consultations for neurological indications.

Methods: The aim of this survey was to assess structure, usage and need for telemedicine consultations for non-neurologically managed intensive care units and to determine whether there is a need to expand telemedicine stroke networks to include neurointensive care. A national cross-sectional survey was conducted, targeting all 22 German telemedicine stroke networks. The survey included 27 questions on structural aspects of intensive care units, the utilization of telemedical consultations and experiences with tele-neurointensive diagnostics and therapy. Additionally, a sub-study was conducted in six spoke hospitals within the telemedicine stroke network East Saxony (SOS-TeleNET).

Results: Of the 22 networks contacted, 17 (77%) responded. Of these, 11 (65%) regularly received consultation requests from intensive care units, most of which were handled by teleneurologists. The most common indications consisted of ischemic and hemorrhagic strokes, epileptic seizures as well as prognosis assessment and therapy goal adjustments. Several networks indicated interest in expanding telemedicine services for neurological care in intensive care units.

Conclusions: The survey highlights a notable need for telemedicine neurointensive care consultations. Expanding telemedicine infrastructure in this field could contribute to improving the quality of care.

As the global incidence of neurodegenerative disorders rises at a rate beyond what can be attributed solely to population aging, the role of modifiable risk factors has come into research spotlight to inform preventive strategies. While many lifestyle interventions can be implemented at an individual level, addressing environmental pollutants that drive neurodegeneration requires a collective effort involving both public and political engagement. This narrative review summarizes current evidence on the role of selected environmental toxins-pesticides, solvents, air pollution, and heavy metals-in the development of Parkinson's Disease, Alzheimer's Disease, and Amyotrophic Lateral Sclerosis. Drawing from epidemiological and experimental studies, we highlight associations between these exposures and neurodegeneration, as well as potential converging pathophysiological mechanisms such as neuroinflammation and proteinopathy. Understanding these links may help inform public health measures aimed at reducing the burden of these diseases.

Background: Despite current guidelines recommending against intravenous thrombolysis (IVT) in acute ischemic stroke (AIS) patients with direct oral anticoagulants (DOAC) within prior 48 h, latest real-world data indicate no increased bleeding risk. However, these observations are based mainly on alteplase (rt-PA), whereas data for tenecteplase (TNK) are scarce.

Methods: We retrospectively compared data from our stroke registry of AIS-patients with DOAC (intake within the last 48 h), who received IVT either with rt-PA or TNK without prior antagonization. The primary outcome was the rate of symptomatic intracranial hemorrhage (sICH) per SITS-Most criteria. Secondary outcomes included the rate of any ICH or major bleeding, rate of mortality, neurological and functional outcome at discharge.

Results: 82 AIS-patients were included, with 42 patients receiving TNK und 40 patients receiving rt-PA. Median age was 83 y for TNK patients and 82 y for rt-PA patients. Median NIHSS score at admission for TNK was 9 points for both groups (p = 0.61). Median drug-specific DOAC plasma level was 49 ng/mL for TNK versus 24 ng/mL for rt-PA (p = 0.04). We found no statistically significant increased risk for neither sICH (TNK 2.4% vs. rt-PA 2.5%; p = 1), nor for other safety outcomes for TNK-treated patients compared with rt-PA. The rate of excellent functional outcome (TNK 61.9% vs. rt-PA 52.5%) was similar among both groups. High drug-specific DOAC plasma levels were not related to an increased rate of hemorrhagic complications in our cohort.

Conclusion: We report no increased rate of (s)ICH for TNK based IVT compared with rt-PA in AIS-patients with DOAC, indicating a similar safety profile. Moderate to high drug-specific DOAC levels were no surrogates for hemorrhagic complications, supporting the implementation of specific Standard Operating Procedures for IVT in DOAC-treated patients. Contrary to previous studies, we did not observe an increased rate of early recanalization of LVO in TNK-treated patients in this small single-center cohort.

Trial registration: n/A.

Background: Hyper-Reflective foci (HRF) increased in the inner retina (IR) of patients with Multiple Sclerosis (pwMS).

Objective: To evaluate the risk of therapeutic failure, based on HRF count at baseline.

Methods: Fifty-seven pwMS were included in this retrospective, cohort, single-centre study. All patients were enrolled at clinical onset and were treatment-naive, with no evidence of optic nerve involvement. Patient were divided at baseline based on the MS treatment in platform-therapy pwMS (PTpwMS) and as High efficacy therapy pwMS (HETpwMS). Then, all PTpwMS were followed up (87.6±31.2 months) to evaluate the time to therapeutic switch for lack of efficacy on outcomes. HRF count was expressed as the sum of both eyes in Ganglion Cell-Inner Plexiform Layer (GCIP), Inner Nuclear Layer (INL) and Inner Retina (IR, GCIP + INL).

Results: Survival analysis confirmed an increased risk of therapeutic switch in those patients with a higher HRF-INL count (Log-Rank p < 0.0001, H.R. 7.9, _95%CI 2.6-24.5). PTpwMS switching during the follow up had significantly higher HRF count in INL compared to not-switching (45.80 ± 10.32vs 31.75 ± 6.27, p < 0.05).

Conclusions: HRF might be a useful marker to predict the risk of acute demyelination in MS and might give help Neurologist in therapeutic decision.