European Journal of Neurology

BACKGROUND: Gerstmann-Struassler-Scheinker disease is one of the familial prion diseases secondary to mutations in the prion protein gene (PRNP). The clinical phenotype has a diverse spectrum and might show variation among cases with the same genotype. Herein we would like to report a patient with G131V mutation in the PRNP gene, who was initially considered to harbor familial Alzheimer's disease, based on the family history, clinical presentation and imaging findings. METHODS: A case with a G131V mutation in the PRNP gene is reported, and the literature is reviewed...

BACKGROUND: Head down tilt 15° (HDT15°), applied before recanalization, increases collateral flow and improves outcome in experimental ischemic stroke. For its simplicity and low cost, HDT15° holds considerable potential to be developed as an emergency treatment of acute stroke in the pre-hospital setting, where hemorrhagic stroke is the major mimic of ischemic stroke. In this study, we assessed safety of HDT15° in the acute phase of experimental intracerebral hemorrhage. METHODS: Intracerebral hemorrhage was produced by stereotaxic injection of collagenase in Wistar rats...

Endovascular treatment (EVT) has brought a radical change to acute stroke care with tremendous improvement of clinical outcome of patients with large vessel occlusion (LVO). However, EVT also carries risks, the most feared being intracerebral hemorrhage (ICH) after treatment. The risk of secondary ICH after intravenous thrombolysis (IVT) has been attributed to the biological effect of thrombolytic drugs, but also to successful reperfusion in ischemic brain tissue (1). EVT usually does not involve thrombolytic drugs...

Transesophageal echocardiography or TEE is widely established as an important diagnostic tool in the etiologic workup of patients with ischemic stroke. In Austria for example, availability of TEE during weekdays is a mandatory criterion for stroke units. TEE is used for the etiologic workup of patients with presumed cardioembolic stroke. It is particularly useful for the detection of patent foramen ovale, PFO, where it is the diagnostic gold standard. In addition, thrombi in the left atrium, the left atrial appendage or in the aortic arch can be better visualized with it than with conventional transthoracic echocardiography...

BACKGROUND: Hypertension (HTN) is a common comorbidity in multiple sclerosis (MS), and it significantly contributes to adverse outcomes. Unfortunately, the distribution of HTN in persons with MS has not been well-characterized and prior estimates have primarily relied on modest sample sizes. The objective of this study was to robustly describe the distribution of HTN in the MS population in comparison to the non-MS population with considerations for age, sex, and race. To date, this is the largest investigation of its kind...

BACKGROUND: Whether the reported association between migraine with aura (MA) and cardioembolic stroke may be explained by a higher rate of atrial fibrillation (AF) or by other potential cardiac source of cerebral embolism remains to be determined. METHODS: In the setting of a single center, cohort study of consecutive patients with acute brain ischemia stratified by migraine status, we explored the association between AF as well as of patent foramen ovale (PFO) and migraine...

We thank Finsterer and colleagues for their useful comment and for their very useful update on the reported new cases of Guillain-Barré syndrome (GBS) in the context of SARS-Cov-2 infection. As shown by the authors and even more recently by others,1 the number of cases of GBS associated with coronavirus disease 2019 (COVID-19) is continuously increasing since the date of our review (May 17, 2020), but we are pleased to note that the clinical presentation and course does not seem to differ from what observed in our review of the first 18 published cases...

BACKGROUND: The COVID-19 pandemic challenges neurologists in counselling multiple sclerosis (MS) patients with respect to their risk for and by SARS-CoV-2 and in guiding disease-modifying treatment (DMT). The objective was to determine the frequency and distribution of currently known risk factors for COVID-19 mortality in a MS population. METHODS: MS patients with at least one complete case report between January 1st , 2015 and December 31st , 2019 from the Innsbruck MS database (IMSD) were cross-sectionally included...

With interest we read the review article by De Sanctis et al. about 18 patients with Guillain-Barre syndrome (GBS) associated with the SARS-CoV-2 infection (COVID-19) [1]. Acute, inflammatory, demyelinating polyneuropathy (AIDP) was the most frequent subtype of GBS. We have the following comments and concerns.

OBJECTIVES: Rhabdomyolysis is a medical emergency characterized by acute skeletal muscle breakdown with a sudden rise and subsequent fall of serum creatine kinase (CK) levels. Events of rhabdomyolysis are provoked by exposure to external triggers, possibly in combination with an increased genetic susceptibility. We aimed to comprehensively describe external triggers and potentially pathogenic genetic variants possibly implicated in increased rhabdomyolysis susceptibility. METHODS: We performed a retrospective single-center study, including a total of 1302 patients with an acute CK level exceeding 2000 IU/L...

BACKGROUND: Amyotrophic Lateral Sclerosis (ALS) risk increases with age and a linear log-incidence and log-age relationship is interpreted to suggest that five-six factors are involved in disease onset. The factors remain unidentified, except that fewer steps are predicted for those carrying a known ALS-causing mutation. METHODS: Men, those with a psychiatric disorder or cardiovascular disease diagnosis (CVD) have an increased relative-risk of ALS. Using the Danish population registries (ALS diagnosis year 1980-2017) we tested whether these factors would decrease the predicted steps to disease...

BACKGROUND AND PURPOSE: The pharmacologic effects of pioglitazone on the incidence of Parkinson disease (PD) are not clear. No study has examined the interaction between pioglitazone and statin treatment on prevention of PD. This study analyzed the associations between pioglitazone, statins, and the incidence of PD in patients with diabetes mellitus (DM) in Taiwan. METHODS: We used the National Health Insurance (NHI) database from 1996 to 2013. DM and PD were diagnosed according to the International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9-CM) codes...

BACKGROUND: Long-term treatment of myasthenia gravis (MG) includes symptomatic and course-modifying therapies that target the immune system. Recently, both IVIG and subcutaneous immunoglobulin (SCIG) have emerged as viable options for chronic therapy, considering the favourable safety-efficacy profile and possible immunosuppressant sparing properties. We aimed to investigate the outcomes of the long term care of generalized MG with immunoglobulins (Ig). METHODS: This is a retrospective, repeated-measures design study...

BACKGROUND: When switching between MAO-B inhibitors, a 15-day suspension period is a precautionary measure to avoid a serotonin syndrome and hypertensive crises. However, this indication results in a major inconvenience for parkinsonian patients because of the worsening of their clinical condition. In routine clinical practice, neurologists often perform a substitution of these two drugs without solution of continuity, (i.e. overnight), to avoid worsening of fluctuations and prolonged OFF periods...

BACKGROUND: According to current guidelines, aneurysmal subarachnoid haemorrhage (aSAH) patients are mostly managed in intensive care units (ICU) regardless of baseline severity. We assessed the prognostic and economic implications of initial admission of low-grade aSAH patients into a Stroke Unit (SU) compared to initial ICU admission. METHODS: We reviewed prospectively registered data from consecutive aSAH patients with a WFNS grade lower than 3 admitted at a Comprehensive Stroke Center between April-2013 and September-2018...

OBJECTIVE: To estimate health related quality of life (HRQOL) in patients with untreated cavernous malformation of the CNS (CCM). METHODS: We performed a cross-sectional observational study on patients with CCM admitted to our department from 01.11.2017-10.01.2020 using standardized interviews (short-form -36 questionnaire, hospital anxiety and depression score (HADS-A/D), CCM-perception questionnaire). Including criteria was diagnosis of an untreated CCM and information about the diagnosis in a specialized CCM consultation...

At the time of writing, the number of confirmed COVID-19 cases in Italy has dropped off to less than 150 cases per day. Now we can finally take a breath and think back on what we have experienced during the last months in our hospital Papa Giovanni XXIII in Bergamo, Lombardy, the epicentre of the Italian pandemic.

BACKGROUND: Transient ischemic attack (TIA) can occur without self-awareness of symptoms. We aimed to investigate characteristics of patients with tissue-based diagnosis of TIA but having no self-awareness of their symptoms and whose symptoms were witnessed by bystanders. METHODS: We used data from the multicenter registry of 1,414 patients with clinical diagnosis of TIA. For patients without evidence of ischemic lesions on imaging, clinical characteristics were compared between patients with and without self-awareness of their TIA symptoms...

BACKGROUND AND PURPOSE: Gender bias is a known issue in healthcare and academia. We analysed the gender of patients reported in the literature with "man-in-the-barrel syndrome" or equivalent semiological terms. METHODS: A search in PubMed database was conducted using the terms "man-in-the-barrel", "person-in-the-barrel", "woman-in-the-barrel", "brachial diplegia", "flail arm" and "cruciate paralysis"...

BACKGROUND: Better understanding the incidence, predictors and mechanisms of early neurological deterioration (END) following intravenous thrombolysis (IVT) for acute stroke with mild symptoms and isolated internal carotid artery occlusion (iICAo) may inform therapeutic decisions. METHODS: From a multicenter retrospective database we extracted all patients with both NIHSS<6 and iICAo (i.e. not involving the Willis circle) on admission imaging, intended for IVT alone...