Rare Movement Disorders-An Approach for Clinicians.

Rare genetic movement disorders usually manifest early in life with dystonia, parkinsonism, chorea, or a combination thereof. These are often associated with neurodevelopmental delay, intellectual disability, speech problems, retinal abnormalities, seizures, ataxia, spasticity, or systemic features. Due to their vast number and pheno-genotypic heterogeneity, the diagnosis of these disorders can be challenging.

Hemifacial spasm: an update on pathophysiology, investigations and management.

Hemifacial spasm (HFS) is characterized by involuntary, paroxysmal contractions of muscles innervated by the facial nerve that can lead to a negative impact on daily activities, including reading or driving, as well as psychosocial well-being. HFS remains a clinical diagnosis with characteristic features, however investigations can be immensely helpful. MRI, particularly heavily weighted T2 high-resolution sequences, continues to be invaluable to assess for structural abnormalities, including the presence of neurovascular conflict (NVC) in the cerebellopontine angle.

Cerebral air embolism in vascular Ehlers-Danlos syndrome: a retrospective diagnosis.

We describe a case of cerebral air embolism in a man with vascular Ehlers-Danlos syndrome. The key learning point is that cerebral air embolism can cause a florid encephalopathy and MR imaging appearance, yet the causative diagnosis may be made only by carefully scrutinising the CT scan, rather than the MRI. This patient was incorrectly diagnosed with posterior reversible encephalopathy syndrome before subsequent closer inspection of the CT scan at presentation disclosed the true diagnosis.

Basal ganglia calcification: 'Fahr's disease'.

Brain calcification is often detected incidentally, but basal ganglia calcification has a wide differential diagnosis, including genetic and acquired causes. Primary familial brain calcification (PFBC) (formerly 'Fahr's disease') refers to neurological disorders characterised by bilateral, symmetrical deposition of calcium-hydroxyapatite crystals in the basal ganglia and other encephalic regions, with a presumed genetic basis. Its clinical picture encompasses motor, cognitive and psychiatric manifestations in various combinations.

Wernicke's encephalopathy presenting with confusion and hearing loss.

We present a case of a male in his early 50s assessed in the emergency department with a seemingly clear alcohol history but with classic symptoms of Wernicke's encephalopathy (WE): disorientation, gait ataxia and vertical nystagmus. He also had significant bilateral hearing loss and profound anterograde amnesia. Neuroimaging revealed hallmark signs of WE, including symmetrical T2/fluid-attenuated inversion recovery hyperintensity in the medial thalami.

Methotrexate for the neurologist.

The use of methotrexate in clinical practice has expanded significantly in recent years, as an effective chemotherapeutic agent as well as disease-modifying treatment for conditions such as rheumatoid arthritis, psoriasis and Crohn's disease. It is also used as a steroid-sparing agent for a range of inflammatory diseases of the central and peripheral nervous systems. Clinical neurologists must, therefore, know how to start and uptitrate methotrexate, its monitoring requirements and its potential toxicities.

An unexpected case of acute intermittent porphyria.

Acute Intermittent Porphyria (AIP) can be a challenging diagnosis to make, due to its rarity in actual practice and presenting symptoms often being attributed to more common conditions. This is particularly the case, since many patients will likely present to acute and general hospitals where the diagnosis may often not be considered. However, it remains pivotal to diagnose the condition as early as possible to prevent significant morbidity and even death.

LGI1 Encephalitis and IgG4-Related Disease: Rare Conditions Collide.

Objectives: Leucine-rich glioma-inactivated 1 (LGI1) encephalitis and IgG4-related disease (IgG4RD) have traditionally been regarded as 2 distinct disease entities.

Methods: We detail the presentation, investigations, and management of a patient who showed typical signs and symptoms of LGI1 encephalitis and also found to possess pancreatic changes and a serum profile in keeping with IgG4RD.

Results: Serum and CSF analyses at presentation showed a significant hyponatraemia (117 mmol/L), elevated IgG4 concentration (1.

Biopsy-proven fungal pyelonephritis complicating delayed graft function in a renal transplant patient.

Delayed graft function (DGF) is a common phenomenon following renal transplantation, which can be due to several factors. A rare cause includes invasive fungal infections, which can often be a challenge to diagnose. Nonetheless, prompt identification of such infections particularly within transplant patients is essential as they can lead to severe downstream sequelae, including graft loss and even death.

Studying cognitive function in patients with a long-standing diagnosis of SWEDD.

Introduction: The cognitive profile of patients with longstanding clinical Parkinsonism possessing scans without evidence of dopaminergic deficit (SWEDD) remains unclear from previous studies.

Methods: We studied 47 patients recruited in the Parkinson's Progression Markers Initiative with SWEDD as baseline diagnosis. They were subdivided by final clinical diagnoses after a 2-year follow-up period into 25 patients with either clinical evidence of Parkinson's Disease (PD) or unclassified parkinsonism and normal SPECT imaging ("true SWEDDs"), 6 patients with a psychogenic illness exhibiting Parkinsonism, 6 patients who had phenoconverted to PD based on reduced striatal dopaminergic activity on imaging, and 10 patients with another tremulous condition.

Cerebral small vessel disease and intracranial bleeding risk: Prognostic and practical significance.

Balancing the risks of recurrent ischemia and antithrombotic-associated bleeding, particularly intracranial hemorrhage (ICH), is a key challenge in the secondary prevention of ischemic stroke and transient ischemic attack. In hyperacute ischemic stroke, the use of acute reperfusion therapies is determined by the balance of anticipated benefit and the risk of ICH. Cerebral small vessel disease (CSVD) causes most spontaneous ICH.

Assessing initial MRI reports for suspected CJD patients.

Background: MRI is invaluable for the pre-mortem diagnosis of sporadic Creutzfeldt-Jakob disease (sCJD), demonstrating characteristic diffusion abnormalities. Previous work showed these changes were often not reported (low sensitivity), leading to eventual diagnosis at a more advanced state. Here, we reviewed the situation a decade later, on the presumption of improved access and awareness over time.

Sex differences in intraorgan fat levels and hepatic lipid metabolism: implications for cardiovascular health and remission of type 2 diabetes after dietary weight loss.

Aims/hypothesis: Type 2 diabetes confers a greater relative increase in CVD risk in women compared with men. We examined sex differences in intraorgan fat and hepatic VLDL1-triacylglycerol (VLDL1-TG) export before and after major dietary weight loss.

Methods: A group with type 2 diabetes (n = 64, 30 male/34 female) and a group of healthy individuals (n = 25, 13 male/12 female) were studied.

Emerging potential mechanisms and predispositions to the neurological manifestations of COVID-19.

A spectrum of neurological disease associated with COVID-19 is becoming increasingly apparent. However, the mechanisms behind these manifestations remain poorly understood, significantly hindering their management. The present review subsequently attempts to address the evolving molecular, cellular and systemic mechanisms of NeuroCOVID, which we have classified as the acute and long-term neurological effects of COVID-19.

Management of Secondary Poor Response to Botulinum Toxin in Cervical Dystonia: A Multicenter Audit.

Background: Botulinum toxin A (BoNT-A) is an effective treatment for cervical dystonia. Nevertheless, up to 30% to 40% patients discontinue treatment, often because of poor response. The British Neurotoxin Network (BNN) recently published guidelines on the management of poor response to BoNT-A in cervical dystonia, but adherence to these guidelines has not yet been assessed.

High Variability in Sepsis Guidelines in UK: Why Does It Matter?

It is recommended that developers of Point Of Care Tests (POCTs) assess the care pathway of the patient population of interest in order to understand if the POCT fits within the pathway and has the potential to improve it. If the variation of the pathway across potential hospitals is large, then it is likely that the evaluation of effectiveness is harder and the route towards large-scale takes adoption longer. Evaluating care pathways can be a time-consuming activity when conducted through clinical audits or interviews with healthcare professionals.

Hepatic Lipoprotein Export and Remission of Human Type 2 Diabetes after Weight Loss.

The role of hepatic lipoprotein metabolism in diet-induced remission of type 2 diabetes is currently unclear. Here, we determined the contributions of hepatic VLDL1-triglyceride production rate and VLDL1-palmitic acid content to changes in intra-pancreatic fat and return of first phase insulin response in a subgroup of the Diabetes Remission Clinical Trial. Liver fat, VLDL1-triglyceride production, and intra-pancreatic fat decreased after weight loss and remained normalized after 24 months of remission.