PRACTICAL NEUROLOGY最新文献

A 61-year-old man had epilepsy related to chronic alcoholism and occipito-temporal porencephaly. Over a span of 19 years, he had been admitted to our institution 227 times, undergoing 55 CT scans of the head and 11 CT scans of the cervical spine. His blood alcohol concentrations varied between 1.9 g/L and 5.1 g/L. We discuss the challenges of emergency management of patients with alcoholism and seizures and the overuse of radiological examinations.

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. Seven genes have been linked to PFBC since 2012, with either autosomal dominant (SLC20A2, PDGFRB, PDGFB and XPR1) or recessive (MYORG, JAM2 and NAA60) mode of inheritance. Mendelian gene discovery has provided critical insights into the pathogenesis of PFBC. Dyshomeostasis of inorganic phosphate, impaired endothelial functions and disrupted blood-brain barrier integrity has been identified as converging pathomechanisms, which could highlight the targets of potential disease-modifying treatments. We provide a state-of-the-art overview on phenotypic features, diagnosis, aetiopathogenesis and management of PFBC.

This review offers comprehensive insights into the presenting features, terminology, imaging techniques and management strategies associated with uveitis, specifically designed to help neurologists understand this complex condition. We have created a glossary of terms used in uveitis care and ocular imaging to help clarify terminology. We have ordered uveitis subtypes in an intuitive manner, focusing on those that neurologists are more likely to encounter. We have written the article from the perspective of uveitis specialists practising in the UK, while emphasising the global variability in clinical presentations and causes. By offering practical guidance on recognising uveitis features as well as treatment options, we aim for this to be a neurologists' aide mémoire to help manage intraocular inflammation.

Marginalia, or apostils, are defined as notes, comments or other markings made in the margins of a book or document. As a reader who has habitually added markings and comments to such documents over many years, I offer some thoughts on the purposes of marginalia added to neurological texts. I also include some practical recommendations on how readers might construct marginalia. Rather than merely personalising a text, marginalia may have the capacity to foster systematic reading and critical thinking and may facilitate the process of writing.

Wilson disease is an inherited disorder of copper metabolism caused by an ATP7B gene mutation, which encodes a protein responsible for excreting excess copper into bile and plasma. The excess copper deposits in the liver, brain and cornea. Copper deposition in the brain causes neuronal loss, gliosis and cavitation in the cortex/basal ganglia/brainstem. Cortical lesions increase patients' liability to seizures. Other causes of seizures in Wilson disease include acute copper shifts and pyridoxine deficiency produced by copper chelating drugs and hepatic encephalopathy. Copper-free diets and copper chelating drugs sometimes cause copper deficiency, resulting in anaemia, thrombocytopenia, neuropathy and myeloneuropathy. Hypocupraemia may rarely cause seizures. We describe a patient with Wilson disease who developed refractory focal seizures with impaired awareness that were resistant to multiple antiseizure medications, midazolam, intravenous methylprednisolone (given in view of recent new-onset refractory status epilepticus), parenteral pyridoxine and the treatment for hepatic encephalopathy. His seizures improved promptly with copper supplementation.

The gastrointestinal tract is inhabited by trillions of micro-organisms that form the gut microbiome, which serves various functions that can influence neurological pathways. It can release metabolites that could affect the nervous system. The bidirectional communication between the intestine and the central nervous system is known as the gut-brain axis. This communication can be impacted by the microbiota in various direct and indirect ways. There has been a suggested connection between the microbiome and many neurological disorders, including epilepsy, Alzheimer's disease, Parkinson's disease and multiple sclerosis. This has been explored in human and animal studies. While no microbial biomarkers have been identified yet, alterations in several taxa have been suggested to be associated with disease states. The potential of the microbiome to modulate neurological function has sparked multiple clinical trials using gut-altering treatments, some with positive preliminary results.