Alessandro Pincherle

Hôpitaux Robert Schuman · Neurology

Background Neurological COVID-19 disease has been reported widely, but published studies often lack information on neurological outcomes and prognostic risk factors. We aimed to describe the spectrum of neurological disease in hospitalised COVID-19 patients; characterise clinical outcomes; and investigate factors associated with a poor outcome. Me...

Along with the propagation of COVID-19, emerging evidence reveals significant neurological manifestations in severely infected COVID-19 patients. Among these patients admitted to the intensive care unit (ICU), behavioral unresponsiveness may occur frequently, yet, there are still only a few cases reported and with rare descriptions of their motor b...

An accurate evaluation and detection of awareness after a severe brain injury is crucial to a patient’s diagnosis, therapy, and end-of-life decisions. Misdiagnosis is frequent as behavior-based assessments often overlook subtle signs of consciousness. This study aimed to identify brain MRI characteristics of patients with residual consciousness aft...

Bedside assessment of consciousness and awareness after a severe brain injury might be hampered by confounding clinical factors (i.e., pitfalls) interfering with the production of behavioral or motor responses to external stimuli. Despite the use of validated clinical scales, a high misdiagnosis rate is indeed observed. We retrospectively analyzed...

Coronavirus disease 2019 (COVID-19) requires admission to intensive care (ICU) for the management of acute respiratory distress syndrome in about 5% of cases. Although our understanding of COVID-19 is still incomplete, a growing body of evidence is indicating potential direct deleterious effects on the central and peripheral nervous systems. Indeed...

Background Occipital nerve blocks are commonly used in the treatment of different types of refractory headaches. The procedure is considered safe, and serious complications have rarely been described. Case presentation We report a serious complication of occipital nerve blockade secondary to the penetration of local anesthetic and non-steroidal an...

Objective To investigate the functional and cognitive outcomes during early intensive neurorehabilitation and to compare the recovery patterns of patients presenting with cognitive motor dissociation (CMD), disorders of consciousness (DOC) and non-DOC. Methods We conducted a single center observational cohort study of 141 patients with severe acqu...

Background: Neurosensory stimulation is effective in enhancing the recovery process of severely brain-injured patients with disorders of consciousness. Multisensory environments are found in nature, recognized as beneficial to many medical conditions. Recent advances detected covert cognition in patients behaviorally categorized as un- or minimall...

Disorders of consciousness (DOC) are a common consequence of severe brain injuries, and clinical evaluation is critical to provide a correct diagnosis and prognosis. The revised Motor Behavior Tool (MBT‐r) is a clinical complementary tool aiming to identify subtle motor behaviors that might reflect residual cognition in DOC. In this prospective stu...

To investigate whether a motor attempt EEG paradigm coupled with functional electrical stimulation can detect command following and, therefore, signs of conscious awareness in patients with disorders of consciousness, we recorded nine patients admitted to acute rehabilitation after a brain lesion. We extracted peak classification accuracy and peak...

Objective Myotonic dystrophy type 1 (DM1) is a hereditary myopathy characterized by an autosomal dominant inheritance with important cardiovascular and autonomic deregulation. DM1 patients have a high prevalence of obstructive sleep apnea (OSA), but the effects of this comorbidity on cardiovascular autonomic control (CAC) are unknown. The present s...

Background: The prion diseases are characterized by sleep disruption, with FFI typically characterized also by severe autonomic dysfunction and sympathetic hyperactivity. We report the results of an extensive neurophysiological and autonomic assessment in a CJD patient carrying the D178 mutation with the uncommon homozygosity for valine at codon 12...

The most relevant neurological sleep disorders are: Obstructive sleep apnea syndrome (OSAS) is the most common sleep-related breathing disorder and an identifiable cause of hypertension. OSAS may also be associated with metabolic dysregulation. Parasomnias (undesirable motor and behavioral phenomena occurring during sleep) may be:Non-REM-related di...

Prion diseases include sporadic, acquired and genetic forms linked to mutations of the prion protein (PrP) gene (PRNP). In subjects carrying the D178N PRNP mutation, distinct phenotypes can be observed, depending on the methionine/valine codon 129 polymorphism. We present here a 53-years-old woman with D178N mutation in the PRNP gene, and homozygos...

Snoring is caused by vibrating anatomical structures in the upper aerodigestive tract. It can be treated surgically and non-surgically, although resective procedures are associated with high postoperative morbidity and failure rate. We describe a new non-resective surgical procedure called the velo-uvulo-pharyngeal lift in which the soft palate is...

The aim of this study was to estimate the prevalence and nature of sleep breathing disorders in Myotonic dystrophy type 1 (DM1). We wanted to determine whether there is a relationship between sleep breathing disorders and clinical parameters such as pulmonary function, degree of neuromuscular impairment, daytime sleepiness, and fatigue. This will h...

Introduzione. La sindrome delle apnee ostruttive nel sonno (OSAS) colpisce il 2-5% della popolazione generale e costituisce un fattore di rischio per lo sviluppo di patologie cardiovascolari, cerebrovascolari e metaboliche. Trattamento d’elezione per le apnee ostruttive nel sonno è l’utilizzo del dispositivo CPAP (Continous Positive Airway Pressure...

Atypical patterns of language activation in functional MRI (fMRI) are not unusual, particularly in patients with severe epilepsy. Still, the functional significance of these activations is under debate. We describe a case of a right-handed patient affected by drug-refractory right temporal lobe epilepsy in whom pre-surgical fMRI showed bilateral la...

Peri-insular hemispherotomy is a disconnective procedure that enables functional isolation of single or multiple epileptogenic regions largely involving one hemisphere. This report is based on a consecutive series of 13 pediatric patients affected by refractory hemispheric epilepsy studied and operated on at the Neurological Institute "C. Besta" of...

A familial form of Creutzfeldt-Jakob disease (CJD) is linked to the D178N/V129 prion protein (PrP) mutation. Tg(CJD) mice expressing the mouse homolog of this mutant PrP synthesize a misfolded form of the mutant protein, which is aggregated and protease resistant. These mice develop clinical and pathological features reminiscent of CJD, including m...

Mutations in the epsilon-sarcoglycan (SGCE) gene have been associated with DYT11 myoclonus-dystonia syndrome (MDS). The aim of this study was to characterize myoclonus in 9 patients with DYT11-MDS presenting with predominant myoclonus and mild dystonia by means of neurophysiological techniques. Variously severe multifocal myoclonus occurred in all...

Focal negative motor (akinetic) seizures are rare ictal events that are diagnostically challenging because they are difficult to differentiate from postictal Todd paresis, transient ischemic attacks, migraine events, and psychogenic episodes. We describe a 45-year-old man in whom, after surgical drainage of a right frontoparietal subdural hematoma,...

A limited number of cases of adult-onset Rasmussen's encephalitis (A-RE) have been reported, but the features of the syndrome are still unclear. The aim of this study was to verify the clinical features of A-RE, and outline a noninvasive approach that may allow its early diagnosis and treatment. Retrospective evaluation of extensive noninvasive wor...

We amplified sequences of the Chlamydia pneumoniae (CP) major-outer membrane protein in the cerebrospinal fluid (CSF) from 23 of 107 (21.5%) relapsing-remitting or secondary progressive multiple sclerosis (MS) patients and two of 77 (2.6%) patients with other neurological diseases (OND) (P = 0.00022). CP+ patients showed magnetic resonance imaging...

Synaptic neural (and neural system) functions are peculiarly sensitive to neuroactive compounds. Pharmacological interference/modulation is readily reflected by modifications in the organization of central nervous system (CNS), electrophysiologic signals occurring spontaneously in response to sensory stimulation (stimulus-related or evoked response...

Previous studies showed that MTX therapy is effective in reducing the progression of disability and MRI activity in patients with SPMS. The aim of this open, uncontrolled study was to evaluate the clinical efficacy, safety, and tolerability of MTX in SPMS. Forty SPMS patients (pts.) (25F, 15M; mean age 42 years; mean EDSS 6 - range 3.5-7.5), with a...

Many studies have demonstrated in animals that 3,4-methtylenedioxymethamphetamine (MDMA-Ecstasy) is toxic to the serotoninergic and dopaminergic systems. Moreover, acute inflammatory cerebral involvement has been reported in heavy MDMA abusers. Dopaminergic toxicity due to recreational Ecstasy use has been recently hypothesized in humans as a cause...

To assess the relevance of Chlamydiae pneumoniae (CP) infection in multiple sclerosis (MS), we evaluated the presence of CP-free DNA and antibodies in serum and in cerebrospinal fluid (CSF) from 116 Italian patients (106 relapsing-remitting, 8 secondary progressive, and 2 primary progressive; 78 F, 38 M, mean age 35.2, SD±11) affected by definite M...