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Introduction: Since the initial identification of Miller Fisher syndrome (MFS) and Bickerstaff brainstem encephalitis (BBE),significant milestones have been achieved in understanding these diseases.Discoveries of common serum antibodies (IgG anti-GQ1b), antecedent infections, neurophysiological data, andneuroimaging suggested a shared autoimmune pathogenetic mechanism rather than distinct pathogenesis, leadingto the hypothesis that both diseases are part of a unified syndrome, termed "Fisher-Bickerstaff syndrome". The subsequent identification of atypical anti-GQ1b-positive forms expanded the classification to a broader condition known as "Anti-GQ1b-Antibody syndrome". Methods: An exhaustive literature review was conducted, analyzing a substantial body of research spanning from the initialdescriptions of the syndrome's components to recent developments in diagnostic classification and researchperspectives. Results: Anti-GQ1b syndrome encompasses a continuous spectrum of conditions defined by a common serological profilewith varying degrees of peripheral (PNS) and central nervous system (CNS) involvement. MFS and BBE represent theopposite ends of this spectrum, with MFS primarily affecting the PNS and BBE predominantly involving the CNS.Recently identified atypical forms, such as acute ophthalmoparesis, acute ataxic neuropathy withoutophthalmoparesis, Guillain-Barré syndrome (GBS) with ophthalmoparesis, MFS-GBS and BBE-GBS overlap syndromes,have broadened this spectrum. Conclusion: This work aims to provide an extensive, detailed, and updated overview of all aspects of the anti-GQ1b syndromewith the intention of serving as a stepping stone for further shaping thereof. Special attention was given to therecently identified atypical forms, underscoring their significance in redefining the boundaries of the syndrome. [ABSTRACT FROM AUTHOR]

Bladder cancer is considered a global health concern characterized by significant morbidity and mortality rates. The complex relationship between diet and bladder cancer is examined, with a specific focus on the role of diet in risk, outcomes, and treatment efficacy. Attention is drawn to the burgeoning field of immunotherapy in bladder cancer treatment, and the possible influence of diet on its outcomes is explored. While evidence remains limited, prior studies in other cancer types have suggested a potential connection between diet and immunotherapy response. To address this knowledge gap, the ongoing BLOSSOM study is presented, which aims to investigate the link between dietary factors, lifestyle, and the effectiveness of immunotherapy in patients with non-muscle-invasive bladder cancer. Ongoing efforts to decipher the intricate relationship between diet and bladder cancer care are highlighted, emphasizing the quest to unravel the dietary puzzle for the improvement of bladder cancer management. [ABSTRACT FROM AUTHOR]

Autoimmune nodopathies are inflammatory diseases of the peripheral nervous system with clinical and neurophysiological peculiar characteristics. In this nosological category, we find patients with autoantibodies against Neurofascin 140/186 and 155, Contactin1, and Caspr1 directed precisely towards nodal and paranodal structures. These antibodies are extremely rare and cause severe clinical symptoms. We describe the clinical case of a patient with autoimmune nodopathy caused by the coexistence of anti-neurofascin (NF) 186/140 and 155, characterized by progressive weakness in all limbs leading to tetraplegia, involving cranial nerves, and respiratory insufficiency. Response to first-line treatments was good followed by rapid dramatic clinical relapse. There are few reported cases of anti-pan NF neuropathy in the literature, and they present a clinical phenotype similar to our patient. In these cases, early recognition of clinical red flags of nodopathies and serial neurophysiological studies can facilitate the diagnosis. However, the severe clinical relapse suggests a possible early use of immunosuppressive therapies for this rare category of patients. [ABSTRACT FROM AUTHOR]

Since the beginning of worldwide vaccination against COVID-19 disease, some reports have revealed a possible relationship between SARS CoV2 vaccination and chronic inflammatory demyelinating polyneuropathy (CIDP). We reviewed the available evidences regarding this topic, adding three new cases to those reported so far, with the purpose to outline the characteristics of these post-vaccinal CIDP. Seventeen subjects were studied. A total of 70.6% of CIDP cases were related to viral vector vaccines, most occurring after the administration of the first dose. CIDPs that occurred after the second dose (17%) were temporally associated with mRNA vaccines. The clinical course and electrophysiology of all patients met the criteria for acute-subacute CIDP (A-CIDP). Administration of the viral vector vaccine was significantly correlated with a higher probability of having cranial nerve impairment (p = 0.004). The electrophysiological phenotype, laboratory and imaging data, and first-line therapies were substantially similar to those of the classical CIDP. The take-home message of the present paper is that the SARS CoV2 vaccine, especially the AstraZeneca vaccine, may be associated with inflammatory neuropathies with acute onset, often indistinguishable from Guillain-Barré syndrome (GBS). Hence, the importance of tracked prospectively patients with GBS occurred post-SARS-CoV2 vaccine. Distinguishing GBS from A-CIDP is crucial because treatment strategies and long-term prognosis are different. [ABSTRACT FROM AUTHOR]

This article discusses a case study of a patient who developed palatal tremor (PT) as a clinical manifestation of epilepsia partialis continua (EPC) after a prolonged vegetative state following an ischemic stroke. PT is a rare movement disorder characterized by involuntary rhythmic twitching of the soft palate. The patient experienced continuous pseudo-rhythmic twitching of the perioral muscles, soft palate, and base of the tongue, which persisted during sleep and did not spread to other muscle groups. The study suggests that rare movement disorders like PT can occur in the late phase after an ischemic stroke and may impact the quality of life and rehabilitation of patients with chronic disorders of consciousness. [Extracted from the article]

Introduction: Myasthenia gravis is a long-lasting autoimmune neuromuscular disease caused by antibodies attacking the neuromuscular junction, which can result in muscle weakness, fatigue, and respiratory failure in severe cases. Myasthenic crisis is a life-threatening event that requires hospitalization and treatments with intravenous immunoglobulin or plasma exchange. We reported the case of an AChR-Ab-positive myasthenia gravis patient with refractory myasthenic crisis, in which starting eculizumab as rescue therapy led to a complete resolution of the acute neuromuscular condition. Case presentation: A 74-year-old man diagnosed with myasthenia gravis. ACh-receptor antibodies positivity comes to our observation for a recrudescence of symptoms, unresponsive to conventional rescue therapies. Due to the clinical worsening over the following weeks, the patient was admitted to intensive care unit, where he underwent therapy with eculizumab. About 5 days after the treatment, there was a significant and complete recovery of clinical condition with weaning-off from invasive ventilation and discharge to outpatient regimen, with reduction of steroid intake and biweekly maintenance with eculizumab. Discussion: Eculizumab, a humanized monoclonal antibody that inhibits complement activation, is now approved as treatment for refractory generalized myasthenia gravis with anti-AChR antibodies. The use of eculizumab in myasthenic crisis is still investigational, but this case report suggests that it may be a promising treatment option for patients with severe clinical condition. Ongoing clinical trials will be needed to further evaluate the safety and efficacy of eculizumab in myasthenic crisis. [ABSTRACT FROM AUTHOR]

Introduction: We describe a case of intrathecal methotrexate toxicity and perform a literature review of existing cases. Case presentation: A 23-year-old man who received diagnosis of acute lymphoblastic leukemia and started chemotherapy according to the LAL1913 protocol underwent CNS prophylaxis with intrathecal methotrexate. About 1 month after, he developed a flaccid paraparesis. CSF analysis showed albumin/cytological dissociation. Spinal MRI showed thickening of the ventral roots of the cauda equina with contrast enhancement. Nerve conduction studies showed severe lower limb motor axonal neuropathy. Needle examination showed acute denervation involving L3-S1 roots. Methotrexate was stopped, and the patient was treated with intravenous immunoglobulins, followed by high-dose intravenous methylprednisolone, with a gradual improvement. Three months later, the spine MRI was normal. Electrophysiological and imaging findings were indicative of pure motor L3-S1 polyradiculopathy. Discussion: Literature review of existing cases confirm the relatively selective involvement of lumbosacral ventral roots in intrathecal methotrexate toxicity. Pathophysiologic mechanisms suggest either a direct toxicity with localized folate deficiency or an immune-mediated mechanism, the latter consistent, in our patient, with the albumin/cytological dissociation and response to immunomodulatory treatments. Pure motor polyradiculopathy of the lower limbs is rare but predictable complication of intrathecal methotrexate, which can benefit from early withdrawal and immunomodulatory treatments. [ABSTRACT FROM AUTHOR]

Tafamidis is a transthyretin (TTR) stabilizer able to prevent TTR tetramer dissociation. There have been a few encouraging studies on Tafamidis efficacy in early-onset inherited transthyretin amyloidosis (ATTR) due to Val30Met mutation. However, less is known about its efficacy in later disease stages and in non-Val30Met mutations. We performed a multi-center observational study on symptomatic ATTR patients prescribed to receive Tafamidis. We followed up patients according to a standardized protocol including general medical, cardiological and neurological assessments at baseline and every 6 months up to 3 years. Sixty-one (42 males) patients were recruited. Only 28 % of enrolled subjects had the common Val30Met mutation, mean age of onset was remarkably late (59 years) and 18 % was in advanced disease stage at study entry. Tafamidis proved safe and well-tolerated. One-third of patients did not show significant progression along 36 months, independently from mutation type and disease stage. Neurological function worsened particularly in the first 6 months but progression slowed significantly thereafter. Autonomic function remained stable in 33 %, worsened in 56 % and improved in 10 %. Fifteen percent of patients showed cardiac disease progression and 30 % new onset of cardiomyopathy. Overall, Tafamidis was not able to prevent functional progression of the disease in 23 (43 %) subjects, including 16 patients who worsened in their walking ability and 12 patients who reached a higher NYHA score during the follow-up period. A higher mBMI at baseline was associated with better preservation of neurological function. In conclusion, neuropathy and cardiomyopathy progressed in a significant proportion of patients despite treatment. However, worsening of neurological function slowed after the first 6 months and also subjects with more advanced neuropathy, as well as patients with non-Val30Met mutation, benefited from treatment. Body weight preservation is an important favorable prognostic factor. [ABSTRACT FROM AUTHOR]

The article focuses on the demonstration of small fiber pathology in Parkinson's disease inspite of Dopa treatment and functional changes of cutaneous nerves in patients that reflects disease progression.

In this review, progress in hereditary neuropathy research published in the Journal of Neurology over the last 18 months is summarised. [ABSTRACT FROM AUTHOR]

Respiratory chain disorders (RCDs) have been included in the differential diagnosis of adult-onset leukodystrophies. Here, we first report a 32-year-old female with an atypical, adult-onset, non-syndromic RCD due to a mitochondrial DNA deletion and manifesting as complicated ataxia. A 'leukodystrophic' pattern was found on brain MRI, but it was neither isolated nor predominant because of the presence of overt basal ganglia and infratentorial lesions, which led us to the proper diagnosis. Subsequently, we evaluated our series of patients with RCDs in order to verify whether a 'leukodystrophic' pattern with little or no involvement of deep grey structures and brainstem may be found in adult-onset RCDs, as reported in children. Among 52 patients with adult-onset RCDs, no case with a 'leukodystrophic' pattern was found, apart from three cases with a classical phenotype of mitochondrial neurogastrointestinal encephalopathy. In addition, no case of RCDs was found among six cases of adult-onset leukodystrophy of unknown origin and at least one feature suggestive of mitochondrial disease. The review of the literature was in agreement with these findings. Thus, we provide evidence that, unlike in children, RCDs should not be included in the differential diagnosis of adult-onset leukodystrophies, except when there are additional MRI findings or clinical features which unequivocally point towards a mitochondrial disorder. [ABSTRACT FROM AUTHOR]

Cortico-basal syndrome (CBS) is a rare neurodegenerative disease characterised by movement and cognitive disorders. It occurs along the spectrum of fronto-temporal lobar degeneration (FTLD), which also includes fronto-temporal dementia (FTD) and progressive supranuclear palsy (PSP). FTLD has recently been shown to be associated with mutations in GRN gene, coding for progranulin, a multifunctional secreted glycoprotein involved in cell cycle, inflammation and tissue repair. We describe the case of a 73-year-old man suffering from CBS with a family history of cognitive disorders belonging to the clinical spectrum of FTLD. Sequencing analysis of GRN in this patient revealed that the C157KfsX97 null mutation has been already described by Le Ber et al. in a French patient affected by an apparently sporadic form of FTD. This report confirms the variability of clinical phenotypes associated with the same mutation and emphasises the importance of genetic analysis in cases with a clear familiarity, as well as in apparently sporadic forms. [ABSTRACT FROM AUTHOR]

A correction to the article "Monitoring effectiveness and safety of Tafamidis in transthyretin amyloidosis in Italy: a longitudinal multicenter study in a non-endemic area" that was published online on April 20, 2016 is presented.