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Cerebral amyloid angiopathy (CAA) is a small vessel disease, causing spontaneous intracerebral hemorrhage (ICH) in the elderly. It is strongly associated with Alzheimer disease (AD), as most CAA patients show deposition of Aβ—i.e. the basic component of parenchymal Alzheimer amyloid deposits—in the cerebral vessels. Iatrogenic early-onset CAA has been recently identified in patients with a history of traumatic brain injury or other cerebral as well as extra-cerebral lesions that led to neurosurgery or other medical procedures as intravascular embolization by cadaveric dura mater extracts many years before the first ICH event. In those patients, a transmission of Aβ seeds from neurosurgical instruments or from cadaveric dura mater exposure was suggested. We report a 51-year-old woman with unremarkable family history who presented abruptly with aphasia and right hemiparesis. A cerebral left lobar haemorrhagic stroke was documented by neuroimaging. Accurate anamnesis revealed a neurosurgical procedure with cadaveric dura mater graft at the age of 2 years for an arachnoid cyst. The neuropathological examination of the cerebral parietal biopsy showed severe amyloid angiopathy in many leptomeningeal and cortical vessels, as well as abundant parenchymal Aβ deposits, neurofibrillary tangles and neuropil threads. The mechanism involved in the human-to-human transmission of the Aβ proteinopathy remains to be clarified. In our patient the cadaver derived dura used for grafting is a very strong candidate as the source of the transmission. A systematic monitoring of individuals who have had neurosurgical procedures in early life, especially those involving cadaveric dural grafts, is required to determine the ratio of those affected by CAA many years later and unaffected. Moreover, our report confirms that in addition to vascular and parenchymal Aβ pathology, neurofibrillary changes indistinguishable from AD may develop in specific conditions with long latency period from the neurosurgical or embolization procedure.

Introduction Mutations of the skeletal muscle sodium channel gene SCN4A are associated with several neuromuscular disorders including hyper/hypokaliemic periodic paralysis, paramyotonia congenita and sodium channel myotonia. These disorders are distinguished from dystrophic myotonias by the absence of progressive weakness and extramuscular systemic involvement. Methods We present an Italian family with 2 subjects carrying a p.Asn1180Ile mutation in SCN4A gene showing a peculiar clinical picture characterized by the association of myopathic features and myotonia. Results The clinical, electromyographic and histological findings of these patients are reported. The possible pathogenicity of the mutation was tested by three different software, all giving positive results. Discussion This is the first report of a dominant, heterozygous mutation in SCN4A causing a complex phenotype of non-congenital myopathy and myotonic syndrome. We suggest that, in patients with myotonia and myopathy not related to dystrophic myotonias, the sequence analysis of SCN4A gene should be performed.

Headache has been consistently reported as the most common symptom of cerebral venous thrombosis and as the most frequent presenting feature. It is often the heralding symptom, preceding other manifestations of the disease by days or even weeks. This aspect highlights the importance of recognizing headache due to cerebral venous thrombosis, as early recognition of the disease can lead to a rapid diagnosis with appropriate imaging techniques and as early treatment with heparin can dramatically change the course of the disease and alter the prognosis. Unfortunately, although common, the headache has no specific features, and the clinical presentation of CVT is highly variable, making the correct diagnosis in the emergency setting a challenging task for clinicians, even in the case of highly specialized ones such as neurologists. In this review, we will briefly summarize the epidemiology and physiopathology of CVT, and then we will discuss in more details the causes, features, and course of headache, focusing on its relevance for differential diagnosis and on red flags that should suggest the possibility of CVT as the cause of the headache.

The sudden worldwide outbreak of Coronavirus Disease 2019 (COVID-19) has certainly provided new challenges in the management of acute ischaemic stroke, and the risk-benefit ratio of intravenous thrombolysis in COVID-19 positive patients is not well known. We describe four COVID-19 patients treated with intravenous thrombolysis for acute ischaemic stroke. Although rt-PA administration is the main therapeutic strategy, our patients experienced unpredictable complications and showed atypical features: the overall mortality was very high. In conclusion, in this article, we provide information about these cases and discuss the possible explanation behind this trend.

The above article was published online with inverted given and family names. The correct presentation has been corrected above.

XLVI CONGRESSO NAZIONALE 10-13 OTTOBRE 2015 – GENOVA Caso clinico Donna di 51 anni di eta All'eta di 17 anni asportazione di medulloblastoma cerebellare, seguito da radioterapia cranio-spinale con esito di sindrome atassica non condizionante la autonomia motoria. All'eta di 46 anni comparsa di intensa cefalea, stato confusionale e lieve iperpiressia per cui viene ricoverata ed esegue esame liquorale con reperti di normalita al chimico fisico e alle indagini virologiche e colturali, EEG con riscontro di attivita lenta centro-parietale sinistra, RMN encefalo con esiti chirurgici. Veniva trattata con antibioticoterapia con regressione della febbre e graduale miglioramento neurologico in alcuni giorni  All'eta di 51 anni comparsa di cefalea, stato confusionale ed afasia espressiva. Successiva comparsa di emiparesi brachio-crurale destra ad andamento fluttuante ed una crisi parziale motoria destra con secondaria generalizzazione. Accertamenti eseguiti:  Esame liquorale: lieve iperproteinorrachia (67 mg/dl) con cellularita e glicorrachia nella norma. Indagini colturali, virologiche (PCR per HSV 1-2, VZV, CMV, EBV, Enterovirus, Adenovirus) e citologico negative. EEG: rallentamento diffuso sull'emisfero cerebrale sinistro RMN encefalo con gadolinio: alterazione di segnale a carico della corteccia parieto-temporale sinistra con intenso enhancement giriforme corticale dopo contrasto (figura) La paziente veniva trattata con antivirali, antibiotici e antiepilettici. Durante la degenza parziale miglioramento dell'afasia espressiva. A distanza di 5 mesi completo recupero dell'espressione e della comprensione verbale. La Risonanza magnetica di controllo a 5 mesi mostra una completa regressione delle alterazioni precedentemente riscontrate. Introduzione La SMART syndrome (Stroke-like Migraine Attacks after radiation therapy) e una entita clinica caratterizzata da episodi recidivanti complessi di segni e sintomi neurologici attribuibili a disfunzione corticale unilaterale in pazienti con una storia pregressa di radioterapia encefalica. I sintomi clinici includono cefalea, crisi comiziali, deficit visuospaziali, emiparesi, afasia, emisindrome sensitiva. Il pattern neuroradiologico tipico della SMART alla risonanza magnetica nucleare e quello di un diffuso enhancement corticale unilaterale con risparmio della sostanza bianca. Sono stati riportati in letteratura 32 casi di SMART syndrome in pazienti adulti.

"Abstract. Purpose. Despite advances in therapies that offer improved. survival rates, clinical course of brain tumours leads to a. progressive functional deterioration in patients with. modifications in their psychological reaction to the. disease. Patients with brain tumours are rarely assessed. for quality of life and psychological variables, and even. fewer studies have assessed patients who have experienced. a recurrence of brain tumours. Therefore, the aim. of the present study is to investigate the patients with. recurrent brain tumours and their reaction to the illness.. Method We enrolled 81 patients with recurrent CNS. tumours. Karnofsky Performance Status scale (KPS) was. used to evaluate functional status of patients; the multidimensional. aspect of quality of life was assessed through. “Functional Assessment of Cancer Therapy-Brain” (FACTBr),. “Hospital Anxiety and Depression Scale” and “Psychological. Distress Inventory”. These were all used as tests. of psychological well-being.. Results Distress and almost all mean FACT-Br subscale. scores seemed to be significantly lower in patients, in. comparison with normative data. Surprisingly, the emotional. well-being mean score was significantly higher in our. recurrence sample than in patients with brain tumours at first. diagnosis. Anxiety seemed not to be influenced by a relapse. diagnosis; instead, depression was higher and differed. significantly from normative data. Low correlation between. KPS and FACT-Br total and some sub-scores was found.. Conclusions Apparent dissociation between patients' judgment. on their quality of life (bad except for emotional) and. their reported distress (low) is the most intriguing finding,. suggesting highly preserved coping strategies in the. emotional sphere, despite intact judgment and disease. awareness."

This study analyzed the subjective facets of quality of life (QoL) and their relation to the type of brain tumor (BT) and phase of disease. Two hundred and ninety-one patients with pinealoblastoma, medulloblastoma, low-grade glioma, anaplastic astrocytoma, or glioblastoma were evaluated. With respect to 110 healthy controls, patients in the phases of radiotherapy/chemotherapy, stable disease, or tumor recurrence were significantly more anxious and depressed compared with patients in the early postoperative period. All patients were impaired in mental flexibility and memory, with preservation of abstract reasoning. The Functional Living Index-Cancer (FLIC), previously validated in cancer and BT patients, yielded six subjective factors (disease perception, affective well-being, role and leisure, personal base, nausea, sharing). None of the FLIC factors were predicted by tumor type, which only related to the physical and cognitive performances and mood scores. Affective well-being, role and leisure, and sharing were predicted by the phase of disease. Personal base, including self-perception and confidence, was independent on tumor progression and treatment. To conclude, QoL encompasses different subjective aspects, which vary in relation to the phase of disease and clinical burden. However, some person-related facets appear independent on tumor progression and treatment, indicating individual resources. Knowing this may guide tailored interventions supporting QoL.

Co-occurrence of glioblastomas (GBM) and multiple sclerosis (MS) in the same patient is very uncommon. Less than 50 cases in which MS and gliomas coexisted have been reported [1]. In several cases, development of glioma occurred years after the diagnosis of MS. Generally, the appearance of symptoms and signs of tumor in patients with MS is initially attributed to disease relapses in the relapsing–remitting, or to chronic worsening in the progressive forms; therefore, neuroradiological studies are not always performed with a subsequent delay in correct diagnosis. Even when neuroradiological examinations are performed it may sometimes be difficult to distinguish a tumoral from a demyelinating ‘‘tumor-like’’ lesion and histological confirmation is often required. A 60-year-old man with MS was admitted to our unit in April 2012 complaining marked worsening of right hemiparesis and dysarthria over the preceding 3 weeks. His disease had presented a relapsing–remitting course from 1994 (when diagnosis was formulated in agreement with clinical, cerebrospinal fluid and radiological data) to 2001, when secondary progression occurred (ataxia and spastic paraparesis, followed from 2006 by mild cognitive impairment), with superimposed relapses; the last relapse had occurred in 2006 with right optic nerve involvement. Azathioprine therapy had been started in 2004. Brain MRI showed typical features of long-standing demyelinating disease with thinning of the corpus callosum and widespread T2-weighted hyperintensities in the periventricular zones and in the brainstem; irregular enhancement on T1 post-gadolinium scan was detected, involving the lateral part of the left cerebral peduncle, pons and left superior and inferior cerebellar peduncles. Cerebrospinal fluid examination was repeated, revealing a protein concentration of 81 mg/dL and normal cell count, with negative culture; oligoclonal bands were detected at isoelectrofocusing. Treatment with high-dose intravenous methylprednisolone was performed. However, over the next 6 weeks his clinical conditions showed a rapidly progressing deterioration and the patient complained of tetraparesis, dysphagia and dysarthria. Repeat brain MRI (Fig. 1a–d) showed an increase in the extension of the brainstem lesion, with thick enhancement surrounding a partly cystic-like cavity, and involvement of the left middle cerebellar peduncle. The main diagnostic hypothesis was a high-grade glioma; tumor-like plaque was deemed unlikely due to lack of ‘‘open ring sign’’ in enhancement, and brain abscess unlikely due to the thickness and irregularity of contrast enhancement. MS plaques usually are localized in the periventricular white matter, optic nerves and chiasm, cerebellum, brainstem and spinal cord. On MRI examination, these plaques may show contrast enhancement and only in few cases they show mass effect, raising the possibility of an intracranial neoplasm. Size, localization, mass effect, perilesional oedema and progressive volume increase despite steroidal therapy can be red flags in the differential diagnosis of MS [2]. & Andrea Salmaggi a.salmaggi@ospedale.lecco.it

Glioblastoma multiforme (GBM) is the most aggressive primary human brain tumor. The relatively high amount of T regulatory lymphocytes present in the tumor, contributes to the establishment of an immunosuppressive microenvironment. Samples of peripheral blood were collected from GBM patients and healthy controls and a purified population of Treg (CD4(+)/CD25(bright)) was isolated using flow cytometric cell sorting. Treg migrating capacities toward human glioma cell line conditioned medium were evaluated through an in vitro migration test. Our data show that supernatants collected from GBM cell lines were more attractant to Treg when compared to complete standard medium. The addition of an anti-CCL2 antibody to conditioned medium decreased conditioned medium-depending Treg migration, suggesting that CCL2 (also known as Monocyte Chemoattractant Protein, MCP-1) is implicated in the process. The number of circulating CD4(+)/μL or Treg/μL was similar in GBM patients and controls. Specific Treg markers (FOXP3; CD127; Helios; GITR; CTLA4; CD95; CCR2, CCR4; CCR7) were screened in peripheral blood and no differences could be detected between the two populations. These data confirm that the tumor microenvironment is attractive to Treg, which tend to migrate toward the tumor region changing the immunological response. Though we provide evidence that CCL2 is implicated in Treg migration, other factors are needed as well to provide such effect.