Spatial and Temporal Gait Characteristics in Patients Admitted to a Neuro-Rehabilitation Department with Age-Related White Matter Changes: A Gait Analysis and Clinical Study

Background: Patients with age-related white matter changes (ARWMC) frequently present a gait disorder, depression and cognitive impairment. Our aims are to define which alterations in the gait parameters are associated with motor or neuro-psychological impairment and to assess the role of motor, mood or cognitive dysfunction in explaining the variance of the gait parameters. Methods: Patients with gait disorders admitted to a Neuro-rehabilitation Department, affected by vascular leukoencephalopathy who had ARWMC confirmed by a brain MRI, were consecutively enrolled, classified by a neuroradiological scale (Fazekas 1987) and compared to healthy controls. We excluded subjects unable to walk i…

Therapy of ATTR Cardiac Amyloidosis: Current Indications

Transthyretin cardiac amyloidosis is a restrictive cardiomyopathy caused by extracellular deposition in the heart of amyloid fibrils derived from plasma transthyretin (ATTR), either in its hereditary (ATTRh) or acquired (ATTRwt) forms. Cardiac amyloidosis has a very poor prognosis if therapy is not started promptly. Therefore, it is very important to recognize cardiac amyloidosis early in order to immediately start a treatment capable of modifying the prognosis. Treatment of cardiac amyloidosis is not easy, often requiring a multidisciplinary team. New RNA-interfering drugs (such as patisiran) have been devised and are effective in the treatment of ATTRh amyloidosis. Tafamidis (a stabilizer…

Social distancing in chronic migraine during the covid-19 outbreak: Results from a multicenter observational study

Background: The restrictions taken to control the rapid spread of COVID-19 resulted in a sudden, unprecedented change in people’s lifestyle, leading to negative consequences on general health. This study aimed to estimate the impact of such changes on migraine severity during 2020 March–May lockdown. Methods: Patients affected by migraine with or without aura, diagnosed by expert physicians, completed a detailed interview comprehensive of: assessment of migraine characteristics

Paradoxical embolism through a patent foramen ovale from central venous catheter thrombosis: A potential cause of stroke

Paradoxical embolism refers to a potential condition in which an embolus arising from a venous source crosses into the systemic circulation through a right-to-left cardiac shunt causing an arterial embolism. A 39-year-old woman carrier of a central venous catheter (CVC) without evident risk factors for stroke, developed an acute right homonymous hemianopia during hemodialysis. On neuroimaging, an infarct in the territory of the left posterior cerebral artery was demonstrated. Transesophageal echocardiography revealed a patent foramen ovale (PFO) and a large fluctuating thrombus in the right atrium on the tip of the CVC, thus allowing a diagnosis of ischemic stroke from paradoxical embolism.…

A novel compound heterozygous mutation in PYGM gene associated with McArdle’s disease

McArdle's disease is an autosomal recessive glycogenosis due to mutation in the myophosphorylase gene (PYGM) resulting in a pure myopathy. The clinical onset typically occurs in childhood with cramps, myalgia, and intolerance to physical exercise, although late onset forms are also reported. We describe a case of a 17-year-old male complaining of cramps and myalgia following brief and intense exercise. The patient reported marked improvement in muscle fatigability few minutes after starting aerobic exercise. When he was a child, he had experienced few episodes of vomiting, nausea, and black colored urine following physical activity. Laboratory testings revealed high creatine kinase serum le…

Inflammatory polyradiculoneuropathies: Clinical and immunological aspects, current therapies, and future perspectives

Inflammatory polyradiculoneuropathies are heterogeneous disorders characterized by immune-mediated leukocyte infiltration of peripheral nerves and nerve roots leading to demyelination or axonal degeneration or both. Inflammatory polyradiculoneuropathies can be divided into acute and chronic: Guillain–Barré syndrome and chronic inflammatory demyelinating polyneuropathy and their variants. Despite major advances in immunology and molecular biology have been made in the last years, the pathogenesis of these disorders is not completely understood. This review summarizes the current literature of the clinical features and pathogenic mechanisms of inflammatory polyradiculoneuropathies and focuses…

Brainstem evoked potentials and magnetic resonance imaging abnormalities in differential diagnosis of intracranial hypotension.

Summary Objective To compare brainstem acoustic evoked potentials (BAEP) and magnetic resonance imaging (MRI) in the differential diagnosis of intracranial hypotension (IH), Chiari malformation (CM) and sensorineural hearing loss (SNHL). Methods BAEP were recorded in 18 IH, 18 CM, 20 SNHL patients and 52 controls. MRI were acquired in all IH and CM patients. Results Abnormal BAEP were observed in 94% of IH patients, in 33% of CM and 70% of SNHL patients. After recovery from IH, BAEP abnormalities disappeared. Internal auditory canal (IAC) MRI abnormalities were described in 88% of IH patients. MRI signs of IH were observed in 33–78% in IH patients, but the most frequent MRI sign was 8th ner…

Inherited Neuromuscular Disorders: Which Role for Serum Biomarkers?

Inherited neuromuscular disorders (INMD) are a heterogeneous group of rare diseases that involve muscles, motor neurons, peripheral nerves or the neuromuscular junction. Several different lab abnormalities have been linked to INMD: sometimes they are typical of the disorder, but they usually appear to be less specific. Sometimes serum biomarkers can point out abnormalities in presymtomatic or otherwise asymptomatic patients (e.g., carriers). More often a biomarker of INMD is evaluated by multiple clinicians other than expert in NMD before the diagnosis, because of the multisystemic involvement in INMD. The authors performed a literature search on biomarkers in inherited neuromuscular disord…

Sex differences in neuromuscular disorders

: The prevalence, onset, pathophysiology, and clinical course of many neuromuscular disorders (NMDs) may significantly differ between males and females. Some NMDs are more frequently observed in females, and characterized to show a higher grade of severity during or after the pregnancy. Meanwhile, others tend to have an earlier onset in males and exhibit a more variable progression. Prevalently, sex differences in NMDs have a familiar character given from genetic inheritance. However, they may also influence clinical presentation and disease severity of acquired NMD forms, and are represented by both hormonal and genetic factors. Consequently, to shed light on the distinctive role of biolog…

The role of serum free light chain as biomarker of Myasthenia Gravis

Background and aim: Myasthenia gravis (MG) is a B lymphocyte–mediated disease affecting neuromuscular transmission. The clinical course of MG is unpredictable due to the fluctuating nature and heterogeneity of the disease. Increased levels of free light chains (FLC), which reflect B cell activation, have been detected in different autoimmune disorders. In this study, we evaluated the potential role of FLC as diagnostic and prognostic biomarkers of MG. Materials and methods: 74 MG patients and 52 healthy individuals were included in the study. Serum FLC levels were measured by turbidimetric assay (Freelite, The Binding Site Group Ltd) on the Optilite Analyser System in both groups. In MG pat…

Patisiran Enhances Muscle Mass after Nine Months of Treatment in ATTRv Amyloidosis: A Study with Bioelectrical Impedance Analysis and Handgrip Strength

Background and aims. Hereditary transthyretin amyloidosis with polyneuropathy (ATTRv) is caused by mutations in the TTR gene, leading to misfolded monomers that aggregate generating amyloid fibrils. The clinical phenotype is heterogeneous, characterized by a multisystemic disease affecting the sensorimotor, autonomic functions along with other organs. Patisiran is a small interfering RNA acting as a TTR silencer approved for the treatment of ATTRv. Punctual and detailed instrumental biomarkers are on demand for ATTRv to measure the severity of the disease and monitor progression and response to treatment. Methods. Fifteen patients affected by ATTRv amyloidosis (66.4 ± 7.8 years, six males) …

Clinical and Neurophysiological Follow-Up of Chronic Inflammatory Demyelinating Polyneuropathy Patients Treated with Subcutaneous Immunoglobulins: A Real-Life Single Center Study

Background: chronic idiopathic demyelinating polyneuropathy (CIDP) is an acquired, immune-mediated neuropathy characterized by weakness, sensory symptoms and significant reduction or loss of deep tendon reflexes evolving over 2 months at least, associated with electrophysiological evidence of peripheral nerve demyelination. Recently, subcutaneous immunoglobulins (SCIg) have been introduced in clinical practice as a maintenance therapy for CIDP; nevertheless, electrophysiological and efficacy data are limited. Methods: to evaluate SCIg treatment efficacy, we retrospectively reviewed data from 15 CIDP patients referring to our clinic, receiving SCIg treatment and who performed electrophysiolo…

Neurological vertigo in the emergency room in pediatric and adult age: systematic literature review and proposal for a diagnostic algorithm.

AbstractNeurological vertigo is a common symptom in children and adults presenting to the emergency department (ED) and its evaluation may be challenging, requiring often the intervention of different medical specialties. When vertigo is associated with other specific symptoms or signs, a differential diagnosis may be easier. Conversely, if the patient exhibits isolated vertigo, the diagnostic approach becomes complex and only through a detailed history, a complete physical examination and specific tests the clinician can reach the correct diagnosis. Approach to vertigo in ED is considerably different in children and adults due to the differences in incidence and prevalence of the various c…

Abnormal BAEP and internal auditory canal MRI in intracranial hypotension

Intracranial hypotension (IH) is a treatable condition due to cerebrospinal fluid leak, characterised by variable clinical and MRI findings.1 Positional headache, neck stiffness, hearing changes with subdural fluid collection, enhancement of meninges, engorgement of venous structures and brain sagging are among the most frequent clinical and MRI findings. Typical abnormalities are found in 68%–85% of patients1. Hearing alterations (ranging from misperception to severe hearing loss) are known clinical symptoms of IH.1 The mechanism involves secondary perilymph depression due to patency of the cochlear aqueduct, inducing a compensatory expansion of the endolymphatic compartment, decreasing ba…

Behavioural and biochemical stress responses of Palinurus elephas after exposure to boat noise pollution in tank

This study examined the effects of boat noise on the behavioural and biochemical parameters of the Mediterranean spiny lobster (Palinurus elephas).The experiment was conducted in a tank equipped with a video and audio recording system. 18 experimental trials, assigned to boat noise and control conditions, were performed using lobsters in single and group of 4 specimens. After a 1. h habituation period, we audio- and video-recorded the lobsters for 1. h. During the experimental phase, the animals assigned to the boat groups were exposed to boat noise pollution (a random sequence of boat noises). Exposure to the noise produced significant variations in locomotor behaviours and haemolymphatic …

Hypertrophic pachymeningitis and cerebral venous thrombosis in myeloperoxidase-ANCA associated vasculitis

Hypertrophic pachymeningitis (HP) is a circumscribed inflammatory process that thickens meninges with fibrous adhesions. Among the causes of HP, vasculitis and autoimmune disease should be considered; myeloperoxidase (MPO)-antinuclear cytoplasmatic antibodies (ANCA)-positivity can be the only

The mysterious connection between migraine and dementia: epiphenomenon or causation? Special considerations

Migraine as a Cortical Brain Disorder

Purpose Migraine is an exclusively human chronic disorder with ictal manifestations characterized by a multifaceted clinical complexity pointing to a cerebral cortical involvement. The present review is aimed to cover the clinical, neuroimaging, and neurophysiological literature on the role of the cerebral cortex in migraine pathophysiology. Overview Converging clinical scenarios, advanced neuroimaging data, and experimental neurophysiological findings, indicate that fluctuating excitability, plasticity, and metabolism of cortical neurons represent the pathophysiological substrate of the migraine cycle. Abnormal cortical responsivity and sensory processing coupled to a mismatch between the …

The Pharmacology of Visual Hallucinations in Synucleinopathies

Visual hallucinations (VH) are commonly found in the course of synucleinopathies like Parkinson's disease and dementia with Lewy bodies. The incidence of VH in these conditions is so high that the absence of VH in the course of the disease should raise questions about the diagnosis. VH may take the form of early and simple phenomena or appear with late and complex presentations that include hallucinatory production and delusions. VH are an unmet treatment need. The review analyzes the past and recent hypotheses that are related to the underlying mechanisms of VH and then discusses their pharmacological modulation. Recent models for VH have been centered on the role played by the decoupling …

Viral encephalitis in Parry-Romberg syndrome

A 28-year-old woman was admitted to our clinic for acute onset of headache, aphasia and confusion, followed by a first episode of generalised tonic–clonic seizures. She had a history of left-sided migraine, accompanied by visual aura and right arm dysesthesia since the age of 20 years and

Expression pattern of matrix metalloproteinases-2 and -9 and their tissue inhibitors in patients with chronic inflammatory demyelinating polyneuropathy

Background: Matrix metalloproteinases (MMPs) are a heterogeneous family of endopeptidases that play a role in many physiological functions, including the immune response. An imbalance between the activity of MMPs and their physiological tissue inhibitors (TIMPs) has been proposed in the pathophysiology of different autoimmune disorders. We aimed to assess the plasmatic levels of MMP-2, MMP-9, and their inhibitors TIMP-1 and -2 in patients with chronic inflammatory demyelinating polyneuropathy (CIDP). Subjects and methods: Twenty patients with CIDP and 20 age- and sex-matched healthy controls were enrolled. Plasma concentrations of MMP-2, MMP-9, TIMP-1, and TIMP-2 were determined by the enzy…

Clinico-diagnostic features of neuralgic amyotrophy in childhood

Neuralgic amyotrophy (NA), even known as Personage-Turner's syndrome (PTS), is a neurologic condition, affecting the lower motor neurons of brachial plexus and/or individual nerves or nerve branches, characterized by pain, muscle weakness/atrophy, and sensory symptoms. NA has an acute/subacute onset, after an infection or vaccination; it is more common in male and is rare in the pediatric population. The etiology remains uncertain, being considered heterogeneous and multifactorial. A severe acute neurologic pain around the shoulder girdle is the classic presenting symptom at onset. As the pain subsides, weakness and paresis develop. NA is usually unilateral, but sometimes, a subclinical con…

Effectiveness and Safety of Oral Anticoagulants in Cardiac Amyloidosis: Lights and Shadows

Cardiac amyloidosis (CA) is an infiltrative cardiomyopathy characterized by extracellular deposition of mis-folded proteins called amyloid. Cardiac complications of CA are several: heart failure, aortic valve stenosis, thromboembolism, conduction disorders, atrial fibrillation, and ventricular arrhythmias. Atrial dysfunction is common in CA patients. Several evidences suggest to anticoagulated patients with CA in atrial fibrillation independently from CHA2DS2VaSC score. Considering the high thromboembolic risk in CA patients, anticoagulant therapy should be considered also in CA patients in sinus rhythm, when the atria are enlarged and dysfunctional, and the bleeding risk is low. Unfortunat…

Pancoast's syndrome caused by lymph node metastasis from breast cancer.

Pancoast’s syndrome may be the result of neoplastic, inflammatory or infectious disease. We report an unusual case of Pancoast’s syndrome in a patient with metastatic breast cancer. A 54-year-old woman, affected by metastatic breast cancer, presented for severe shoulder pain, paraesthesia and numbness in the right arm. Despite further multiple lines of systemic chemotherapy, she developed a progressive enlargement of retropectoral, supraclavicular and infraclavicular lymph node metastases, which involved brachial plexus, apex of lung and anterior mediastinum. Physical examination revealed severe weakness of proximal muscles of the right arm. Neuropathic pain was managed with pharmacological…

Significant reduction of physical activity in patients with neuromuscular disease during COVID-19 pandemic: the long-term consequences of quarantine

Abstract Background Quarantine was the measure taken by governments to control the rapid spread of COVID-19. This restriction resulted in a sudden change in people’s lifestyle, leading to an increase in sedentary behavior and a related decrease in the practice of physical activity (PA). However, in neuromuscular diseases patients need to perform regular PA to counteract the negative consequences of the disease. Hence, the aim of this study was to estimate the levels of PA, measured as energy expenditure (MET–minute/week), among patients with neuromuscular disease (NMD) before and during the last week of quarantine. Methods A total of 268 Italian subjects, living in Sicily, completed an adap…

Comparative analysis of biochip mosaic-based indirect immunofluorescence with enzyme-linked immunosorbent assay for diagnosing myasthenia gravis

Background: The detection of anti-acetylcholine receptor (AChR) and anti-muscle-specific tyrosine kinase (MuSK) antibodies is useful in myasthenia gravis (MG) diagnosis and management. BIOCHIP mosaic-based indirect immunofluorescence is a novel analytical method, which employs the simultaneous detection of anti-AChR and anti-MuSK antibodies in a single miniature incubation field. In this study, we compare, for the first time, the BIOCHIP MG mosaic with conventional enzyme-linked immunosorbent assay (ELISA) in the diagnosis of MG. Methods: A total of 71 patients with MG diagnosis were included in the study. Anti-AChR and anti-MuSK antibodies were measured separately by two different ELISA an…

Fetal variant of posterior cerebral artery: just a physiologic variant or a window for possible ischemic stroke?

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Diagnostic and therapeutic aspects of hemiplegic migraine

Hemiplegic migraine (HM) is a clinically and genetically heterogeneous condition with attacks of headache and motor weakness which may be associated with impaired consciousness, cerebellar ataxia and intellectual disability. Motor symptoms usually last <72 hours and are associated with visual or sensory manifestations, speech impairment or brainstem aura. HM can occur as a sporadic HM or familiar HM with an autosomal dominant mode of inheritance. Mutations in CACNA1A, ATP1A2 and SCN1A encoding proteins involved in ion transport are implicated. The pathophysiology of HM is close to the process of typical migraine with aura, but appearing with a lower threshold and more severity. We review…

Impact of COVID-19 in AChR Myasthenia Gravis and the Safety of Vaccines: Data from an Italian Cohort.

Background and aims. Patients with Myasthenia gravis (MG) are considered vulnerable as they may present with respiratory muscle weakness and because they are on immunosuppressive treatment; thereby, COVID-19 may have a detrimental effect on these patients. Vaccines against COVID-19 are currently available and it has been shown as they can prevent severe COVID-19 in vulnerable patients. Notwithstanding their efficacy, vaccine hesitancy has not been completely dispelled in the general population. Unfortunately, there is limited data about the safety of these vaccines in MG patients. The aims of this study are to evaluate the impact of COVID-19 in a MG cohort, the adherence to COVID-19 vaccina…

Novel missense mutation in the ATP1A2 gene associated with atypical sporapedic hemiplegic migraine

Hemiplegic migraine (HM) is a rare subtype of migraine with aura in which attacks include transient motor weakness or hemiparesis that can last several days. HM is linked to mutations in three different genes, CACNA1A, ATP1A2 and SCN1A, which encode for ion transporters. The clinical spectrum includes atypical symptoms such as impaired consciousness, epileptic seizures, permanent cerebellar ataxia or mental retardation. We describe a novel mutation found in the ATP1A2 gene in a patient with late-onset HM. His attacks were characterised by motor weakness associated with altered mental status, diplopia and ataxia. He also showed up MRI abnormalities and incomplete response to prophylactic the…

“Accent issue”: foreign accent syndrome following ischemic stroke

Background: Foreign accent syndrome (FAS) is arare syndrome associated with altered speech rhythm and prosody, which listeners perceive as foreign; cerebrovascular accidents, tumors and multiple sclerosis are reported as possible causes of FAS. The pathophysiology of FAS is not yet understood. Case presentation: A 68-year-old Italian man was admitted to the EmergencyDepartment for non-fluent aphasia and dysarthria. Computed tomography (CT) scan did not show abnormalities; the patient was treated with systemic thrombolysis. A repeated brain CT and magnetic resonance imaging (MRI) confirmed an infarct in the left primary motor cortex and mild extension to cortico-subcortical frontal regions. …

Cryptogenic stroke and atrial fibrillation in a real-world population: the role of insertable cardiac monitors

AbstractThe incidence of atrial fibrillation (AF) in cryptogenic stroke (CS) patients has been studied in carefully controlled clinical trials, but real-world data are limited. We investigated the incidence of AF in clinical practice among CS patients with an insertable cardiac monitor (ICM) placed for AF detection. Patients with CS admitted to our Stroke Unit were included in the study; they received an ICM and were monitored for up to 3 years for AF detection. All detected AF episodes of at least 120 sec were considered. From March 2016 to March 2019, 58 patients (mean age 68.1 ± 9.3 years, 67% male) received an ICM to detect AF after a CS. No patients were lost to follow-up. AF was detec…

Tumour-like presentation of atypical posterior reversible encephalopathy syndrome with prominent brainstem involvement

Typical posterior reversible encephalopathy syndrome (PRES) is a clinical-neuroradiological entity characterised by bilateral white matter oedema, which is usually symmetrical and totally reversible in 2–3 weeks. A 46-year-old man presented with a persistent headache and visual blurring in the right eye. On admission, the clinical examination revealed minimal unsteadiness of gait and elevated blood pressure. A brain MRI showed a hyperintense signal on T2-weighted sequences in the whole brainstem, extended to the spinal cord (C2–C6), the left insula and the right cerebellum. When his blood pressure was controlled, his symptoms gradually improved. The follow-up MRI scan at 3 weeks revealed a …

Adherence and Reactogenicity to Vaccines against SARS-COV-2 in 285 Patients with Neuropathy: A Multicentric Study

Background: The safety of the new vaccines against SARS-CoV-2 have already been shown, although data on patients with polyneuropathy are still lacking. The aim of this study is to evaluate the adherence to SARS-CoV-2 vaccination, as well as the reactogenicity to those vaccines in patients affected by neuropathy. Methods: A multicentric and web-based cross-sectional survey was conducted among patients affected by neuropathy from part of South Italy. Results: Out of 285 responders, n = 268 were included in the final analysis and n = 258 of them (96.3%) were fully vaccinated. Adherence to vaccination was higher in patients with hereditary neuropathies compared to others, while it was lower in …

A Critical Review of Alien Limb-Related Phenomena and Implications for Functional Magnetic Resonance Imaging Studies

Consensus criteria on corticobasal degeneration (CBD) include alien limb (AL) phenomena. However, the gist of the behavioral features of AL is still “a matter of debate.” CBD-related AL has so far included the description of involuntary movements, frontal release phenomena (frontal AL), or asomatognosia (posterior or “real” AL). In this context, the most frequent symptoms are language and praxis deficits and cortical sensory misperception. However, asomatognosia requires, by definition, intact perception and cognition. Thus, to make a proper diagnosis of AL in the context of CBD, cognitive and language dysfunctions must be carefully verified and objectively assessed. We reviewed the current…

New-onset headache following COVID-19: An Italian multicentre case series

Objective: To describe the characteristics of patients with new-onset headache following SARS-CoV-2 infection. Background: SARS-CoV-2 infection leads to several neurological manifestations, and headache is a frequent and disabling symptom, both exacerbating pre-existing headache syndromes and causing new-onset ones. Methods: Patients with new-onset headache after SARS-CoV-2 infection with consent to participate were included, while those ones with previous headaches were excluded. The temporal latency of headache after infection, pain characteristics, and concomitant symptoms were analysed. Moreover, the efficacy of acute and preventive medications was explored. Results: Eleven females (med…

Frequency and Correlates of Mild Cognitive Impairment in Myasthenia Gravis

Background: Antibodies against acetylcholine receptors (AChRs) can also target nicotinic AChRs that are present throughout the central nervous system, thus leading to cognitive dysfunctions in patients with myasthenia gravis (MG). However, the presence of cognitive impairment in MG is controversial, and the factors that may influence this risk are almost completely unknown. In this study, the frequency of mild cognitive impairment (MCI) in MG, as well as the clinical, immunological, and behavioral correlates of MCI in MG were evaluated. Methods: A total of 52 patients with MG underwent a comprehensive assessment including motor and functional scales, serological testing, and neuropsychologi…

Atypical radiological presentation of multiple cystic brain metastases from lung cancer simulating neurocysticercosis.

Brain metastases (BMs) are usually characterised by vasogenic oedema and mass effect, but cystic appearance can rarely occur, mimicking parasitosis, such as neurocysticercosis (NCC). A woman in her mid-50s was admitted for dizziness and upper left extremity paresis. Neuroimaging showed multiple cystic lesions consistent with multiple stages of NCC evolution, and empiric albendazole was started, without any clinical improvement. A whole-body CT revealed a pulmonary lesion in the right superior lobe. Pathological analysis from brain specimen demonstrated a clear cell lung carcinoma. The patient gradually worsened and died 4 months after the diagnosis. In conclusion, multiple cystic BMs are an…

Rituximab in AChR subtype of myasthenia gravis: systematic review

Myasthenia gravis (MG) is a chronic autoimmune disorder of the neuromuscular junction characterised by an autoantibody against acetylcholine receptor (AChR-Ab), autoantibody against muscle-specific kinase (MuSK-Ab), lipoprotein-related protein 4 or agrin in the postsynaptic membrane at the neuromuscular junction. Many patients are resistant to conventional treatment and effective therapies are needed. Rituximab (RTX) is a monoclonal antibody directed against CD20 antigen on B cells which has been successfully employed in anti-MuSK-Ab+MG, but the efficacy in anti-AChR-Ab+MG is still debated. The purpose of this systematic review was to describe the best evidence for RTX in the acetylcholine …

Migraine and Sport in a Physically Active Population of Students: Results of a Cross‐Sectional Study

Abstract Objective: In this study, we explored the relationship between migraine and sport in a physically active population of students, analyzing the risk of migraine among sporty students. Background: The relationship between sport and migraine is controversial; moreover, several studies report on sport as a migraine trigger, but there is evidence that physical activity could have a relevant role in migraine prevention. Methods: A cross-sectional survey was conducted using the validated ID-migraine questionnaire including specific demo-anthropometric (gender, age, weight, height) and sports variables on a potentially active student population of the University of Palermo. Evaluation in p…

Posterior variant of alien limb syndrome with sudden clinical onset as self-hitting associated with thalamic stroke

We present a case of sudden postischaemic onset of alien limb syndrome, with unintentional self-injury. Alien limb syndrome is an uncommon neurological disorder featured by uncontrolled and involuntary movements of a limb. Three variants of alien limb syndrome have been described: the anterior, featured by grasping of surrounding objects, the callosal, presenting with intermanual conflict, and the posterior, associated with involuntary levitation of the limb. Our patient suffered from an acute presentation of the posterior variant of the alien limb syndrome, resulting from an isolated thalamic stroke which was documented using 24-h computed tomography brain scan. Only one previous case of a…

Sleep and Chronobiology as a Key to Understand Cluster Headache

The cluster headache is a primary headache characterized by attacks of unilateral pain associated with ipsilateral cranial autonomic features. These attacks recur in clusters during the years alternating with periods of complete remission, and their onset is often during the night. This annual and nocturnal periodicity hides a strong and mysterious link among CH, sleep, chronobiology and circadian rhythm. Behind this relationship, there may be the influence of genetic components or of anatomical structures such as the hypothalamus, which are both involved in regulating the biological clock and contributing even to the periodicity of cluster headaches. The bidirectional relationship manifest…

Clinical presentation of strokes confined to the insula: a systematic review of literature

Abstract Background and purpose The insular cortex serves a wide variety of functions in humans, ranging from sensory and affective processing to high-level cognition. Hence, insular dysfunction may result in several different presentations. Ischemic strokes limited to the insular territory are rare and deserve a better characterization, to be quickly recognized and to receive appropriate treatment (e.g. thrombolysis). Methods We reviewed studies on patients with a first-ever acute stroke restricted to the insula. We searched in the Medline database the keywords “insular stroke” and “insular infarction”, to identify previously published cases. Afterwards, the results were divided depending …

Unusual Presentation of Bilateral Carotid Artery Dissection: The Importance of Reasoning Outside the Box

A bilateral internal carotid artery dissection presenting with atypical symptoms of cerebral hypoperfusion has been rarely reported, especially in the absence of obvious precipitating factors. A middle-aged woman presented to the emergency department with a 2-day-history of progressive left arm numbness and weakness, confusion, disorientation and clumsiness worsened by upright position. A cerebral hypoperfusion condition was hypothesized and confirmed by a CT angiography, which showed bilateral internal carotid dissection with uncertain etiology. Screening for predisposing conditions to spontaneous carotid arteries dissection was basically negative. Regarding potential precipitating factors…

Machine Learning for Early Diagnosis of ATTRv Amyloidosis in Non-Endemic Areas: A Multicenter Study from Italy

Background: Hereditary transthyretin amyloidosis with polyneuropathy (ATTRv) is an adult-onset multisystemic disease, affecting the peripheral nerves, heart, gastrointestinal tract, eyes, and kidneys. Nowadays, several treatment options are available; thus, avoiding misdiagnosis is crucial to starting therapy in early disease stages. However, clinical diagnosis may be difficult, as the disease may present with unspecific symptoms and signs. We hypothesize that the diagnostic process may benefit from the use of machine learning (ML). Methods: 397 patients referring to neuromuscular clinics in 4 centers from the south of Italy with neuropathy and at least 1 more red flag, as well as undergoin…

A Stage-Based Approach to Therapy in Parkinson’s Disease

Parkinson’s disease (PD) is a neurodegenerative disorder that features progressive, disabling motor symptoms, such as bradykinesia, rigidity, and resting tremor. Nevertheless, some non-motor symptoms, including depression, REM sleep behavior disorder, and olfactive impairment, are even earlier features of PD. At later stages, apathy, impulse control disorder, neuropsychiatric disturbances, and cognitive impairment can present, and they often become a heavy burden for both patients and caregivers. Indeed, PD increasingly compromises activities of daily life, even though a high variability in clinical presentation can be observed among people affected. Nowadays, symptomatic drugs and non-phar…

Clinical Correlates of Functional Motor Disorders: An Italian Multicenter Study

Background\ud Functional motor disorders (FMDs) are abnormal movements that are significantly altered by distractive maneuvers and are incongruent with movement disorders seen in typical neurological diseases.\ud \ud Objective\ud The objectives of this article are to (1) describe the clinical manifestations of FMDs, including nonmotor symptoms and occurrence of other functional neurological disorders (FND); and (2) to report the frequency of isolated and combined FMDs and their relationship with demographic and clinical variables.\ud \ud Methods\ud For this multicenter, observational study, we enrolled consecutive outpatients with a definite diagnosis of FMDs attending 25 tertiary movement …

Use of drugs for attrv amyloidosis in the real world: How therapy is changing survival in a non-endemic area

Background: Over the past decade, three new drugs have been approved for the treatment of hereditary amyloid transthyretin (ATTRv) polyneuropathy. The aim of this work was to analyze whether current therapies prolong survival for patients affected by ATTRv amyloidosis. Methods: The study was conducted retrospectively, analyzing the medical records of 105 patients with genetic diagnoses of familial amyloidotic polyneuropathy followed at the two referral centers for the disease in Sicily, Italy. Of these, 71 received disease-modifying therapy, while 34 received only symptomatic treatment or no therapy. Results: The most used treatment in our patient cohort was tafamidis, followed by liver tra…

Hirayama disease: Nosological classification and neuroimaging clues for diagnosis

Hirayama disease (HD) is a rare, benign, and nonprogressive motor neuron disease (MND) affecting the upper limbs. It usually presents with weakness and amyotrophy in a single upper extremity with an insidious onset between adolescence and the third decade of life. Since its description in 1959, HD has been known under several names and eponyms in Europe and in Asian countries probably due to its heterogeneous clinical features. Thus, the unclear nosological classification makes challenging the differential diagnosis between HD and other neuromuscular conditions, such as MNDs. However, apart from the nosological difficulties and the lack of evidence-based guideline for diagnosis, the neuroim…

Lateralized periodic discharges in insular status epilepticus: A case report of a periodic EEG pattern associated with ictal manifestation

Highlights • Focal status epilepticus has to be considered in the differential diagnosis of patients presenting with aphasia, even in the absence of previous history of epilepsy. • Aphasia can be a rare presenting sign of insular lobe epilepsy. • Lateralized periodic discharges could represent an EEG ictal pattern.

Data of safety in a single-center alemtuzumab treated population

Alemtuzumab is approved for highly active MS and, in Europe, can be employed after other disease-modifying treatments (DMTs) as an escalation approach or first therapeutic option. The occurrence of secondary autoimmune adverse events and infections differs depending on the employed approach.In the manuscript entitled “Alemtuzumab treatment of multiple sclerosis in real-world clinical practice: report from a single Italian center” by di Ioia M. and collaborators, efficacy and safety data of alemtuzumab were evaluated in a real-world MS population. The aim of the article is to describe in detail the unexpected serious adverse events which occurred in this cohort during and after the administr…

The predictive power of transcranial sonography in movement disorders: a longitudinal cohort study.

Transcranial sonography (TCS) is a noninvasive, easily performed, and commonly available neuroimaging technique useful for the study of brain parenchyma in movement disorders. This tool has been increasingly used in the diagnosis of Parkinson’s disease and atypical parkinsonism. The aim of the study was to evaluate the applicability of this technique as supportive tool in the early diagnosis of movement disorders. We performed TCS on 315 individuals which were diagnosed as healthy controls or affected by idiopathic Parkinson’s disease, monogenetic subtypes of Parkinson’s disease, atypical parkinsonism, and Dementia with Lewy bodies. Five TCS diagnostic patterns were defined on the basis of …

Advances on Cellular Clonotypic Immunity in Amyotrophic Lateral Sclerosis.

Amyotrophic lateral sclerosis (ALS) is a fatal neuromuscular disease, characterized by the progressive degeneration of the upper and lower motor neurons in the cortex and spinal cord. Although the pathogenesis of ALS remains unclear, evidence concerning the role of the clonotypic immune system is growing. Adaptive immunity cells often appear changed in number, or in terms of their activation profiles, both peripherally and centrally; however, their role in ALS appears conflictive. Data from human and animal model studies, which are currently reported in the literature, show that each subset of lymphocytes and their mediators may mediate a protective or toxic mechanism in ALS, affecting both…

The Mitochondrial tRNASer(UCN) Gene: A Novel m.7484A>G Mutation Associated with Mitochondrial Encephalomyopathy and Literature Review

Mitochondrial tRNASer(UCN) is considered a hot-spot for non-syndromic and aminoglycoside-induced hearing loss. However, many patients have been described with more extensive neurological diseases, mainly including epilepsy, myoclonus, ataxia, and myopathy. We describe a novel homoplasmic m.7484A>G mutation in the tRNASer(UCN) gene affecting the third base of the anticodon triplet in a girl with profound intellectual disability, spastic tetraplegia, sensorineural hearing loss, a clinical history of epilepsia partialis continua and vomiting, typical of MELAS syndrome, leading to a myoclonic epilepticus status, and myopathy with severe COX deficiency at muscle biopsy. The mutation was also …

Motor Conduction Studies and Handgrip in Hereditary TTR Amyloidosis: Simple Tools to Evaluate the Upper Limbs

PurposeHereditary transthyretin amyloidosis with polyneuropathy (ATTRv) is caused by mutations in the TTR gene, leading to misfolded monomers that aggregate generating amyloid fibrils. The clinical phenotype is heterogeneous, and characterized by a multisystemic disease affecting the sensorimotor and autonomic functions along with other organs.Materials and MethodsAll the patients were assessed by complete neurological assessment, neurophysiological evaluation, of the median nerve, and handgrip analysis. The data are presented as means and standard deviations. Parametric and non-parametric assessments have been performed to identify differences between groups. Pearson's correlation has been…

Recurrent stereotyped TIAs: atypical Bow Hunter’s syndrome due to compression of non-dominant vertebral artery terminating in PICA

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Methylprednisolone-induced hepatotoxicity in a 16-year-old girl with multiple sclerosis.

Multiple sclerosis (MS) is a chronic inflammatory disease with demyelination of the central nervous system. High-dosage corticosteroids are the first-line therapy in the acute relapsing of MS. We report a case of severe high-dose methylprednisolone-induced acute hepatitis in a patient with a new diagnosis of MS. A 16-year-old girl was admitted for urticaria, angioedema, nausea and vomiting a month later she had been diagnosed with MS and treated with high-dosage methylprednisolone. Laboratory investigations showed hepatic insufficiency with grossly elevated liver enzymes. A liver biopsy showed focal centrilobular hepatocyte necrosis with interface hepatitis. Methylprednisolone-induced hepat…

Metalloproteinases and Tissue Inhibitors in Generalized Myasthenia Gravis. A Preliminary Study

Introduction: Matrix metalloproteinases (MMPs) and tissue inhibitors of metalloproteinases (TIMPs) have recently been proposed as promising biomarkers in different immune-mediated disorders. We evaluated the plasma levels of MMP-9 and MMP-2 and their tissue inhibitors TIMP-1 and TIMP-2 in a patients’ cohort with generalized myasthenia gravis (MG). Methods: Plasma concentrations of MMP-9, MMP-2, TIMP-1 and TIMP-2 were evaluated in 14 patients with generalized MG and 13 age- and sex-matched healthy controls. The severity of disease was assessed by the modified Osserman classification. Results: Compared to the healthy subjects, MG patients had increased plasma concentrations of MMP-9, but redu…

Immunological Aspects of Von Hippel-Lindau Disease: A Focus on Neuro-Oncology and Myasthenia Gravis

Von Hippel-Lindau (VHL) disease is an autosomal dominant condition that predisposes affected individuals to a variety of malignant and benign neoplasms. The pathogenetic turning point of this illness is the accumulation of hypoxia-inducible factor (HIF)-1α, a transcription factor of several genes involved in oncogenesis, angiogenesis, tissue regeneration, metabolic regulation, hematopoiesis, and inflammatory responses. From an oncological perspective, increased awareness of the molecular pathways underlying this disease is bringing us closer to the development of specific and targeted therapies. Meanwhile, on the surgical side, improved understanding can help to better identify the patients…

Sound-Induced Flash Illusions Support Cortex Hyperexcitability in Fibromyalgia

Objectives. Fibromyalgia (FM) is characterized by spontaneous chronic widespread pain in combination with hyperalgesia to pressure stimuli. Sound-induced flash illusions (SIFIs) reflect cross-modal interactions between senses allowing to assess a visual cortical hoerexcitability (VCH) by evaluating the fission and fusion illusions disruption. The aims of the present study were to explore whether SIFIs are perceived differently in patients with fibromyalgia as compared to healthy controls (HCs) and how migraine affects fission and fusion illusions in fibromyalgia. Methods. A single flash (F) accompanied by 0 to 4 beeps (B) was presented to induce the fission illusion while multiple flash (i.…

Interictal Heart Rate Variability Analysis Reveals Lateralization of Cardiac Autonomic Control in Temporal Lobe Epilepsy.

International audience; Purpose: The temporal lobe, a critical hub for cognition, also plays a central role in the regulation of autonomic cardiovascular functions. Lesions in this area are usually associated with abnormalities in the regulation of heart rate (HR) and blood pressure (BP). The analysis of the heart rate variability (HRV) is useful to evaluate the cardiac parasympathetic nervous system activity. This study aims at comparing HRV changes occurring in two groups of patients suffering from Temporal Lobe Epilepsy (TLE). To that aim, we evaluated patients differentiated by the right or left location of the epileptic foci. Materials and Methods: Fifty-two adult patients with a diagn…

Misdiagnosis and pitfalls in Panayiotopoulos syndrome

Abstract Panayiotopoulos syndrome (PS) is a frequent (6% among children of 1–15 years) and benign epileptic syndrome, characterized by predominantly autonomic symptoms (emesis, pallor, flushing, cyanosis, mydriasis/miosis, cardiorespiratory and thermoregulatory alterations, incontinence of urine and/or feces, hypersalivation, and modifications of intestinal motility) associated with simple motor focal seizures, which can be followed by secondary generalization. Panayiotopoulos syndrome can be extremely insidious, because it can mimic several condition, such as gastroenteritis, gastroesophageal reflux disease, encephalitis, syncope, migraine, sleep disorders, or even metabolic diseases. This…

Late onset of dropped head syndrome following mantle radiation therapy for Hodgkin lymphoma.

Dropped head syndrome (DHS) is a rare condition, characterised by weakness of the cervical paraspinal muscles with sagging of the head. It is usually seen in association with neurological disorders and rarely can follow radiotherapy. We report a case of a 54-year-old man survivor of Hodgkin lymphoma (HL), who developed DHS 28 years after radiotherapy. He was referred to our department due to progressive weakness and atrophy of cervical paraspinal and shoulder girdle musculature. Physical and neurophysiological examination, electromyography and MRI confirmed the diagnosis of DHS. In the following years, there was no progression of symptoms.

Median-to-Ulnar Nerve Communication in Carpal Tunnel Syndrome: An Electrophysiological Study

The median-to-ulnar communicating branch (MUC) is an asymptomatic variant of the upper limb innervation that can lead to interpretation errors in routine nerve conduction studies. The diagnosis of carpal tunnel syndrome (CTS) or ulnar nerve lesions can be complicated by the presence of MUC. In this study, we describe electrophysiological features of MUC in CTS patients presenting to our clinic. We enrolled MUB cases from consecutive CTS patients referred to our laboratory between the years 2014 and 2019. MUC was present in 53 limbs (36 patients) from the studied population. MUC was bilateral in 53% of patients. MUC type II was the most common subtype (74%), followed by types III and I