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Sporadic Creutzfeldt-Jakob Disease: A Genome-Wide Association Study

Sporadic Creutzfeldt-Jacob disease (sCJD), the most common form of human prion disease, is characterized as a rapidly fatal neurodegenerative process caused by propagation of a transmissible misfolded prion protein gene (PRNP). However, selective PRNP mutations only account for a small subset of sCJD cases, leading to interest in discovering additional genetic risk factors. Through a two-stage study design using genome-wide association studies, the authors have identified two novel risk loci, STX6 and GAL3ST1, which encode for proteins involved in cellular trafficking of prions and sphingolipid metabolism, respectively. These findings provide insights into sCJD pathogenesis and are an avenue for further research.

Big Data Look at Optic Neuritis

In this population-based study of 11 million people in the United Kingdom, the incidence of optic neuritis was 3.7/100,000 person years, and was stable over the time period 1995-2019. The 10-year risk of developing multiple sclerosis in this population was 28.2%.

Recurrent Stroke After Embolic Stroke of Undetermined Source

Twenty percent to 40% of ischemic strokes are classified as cryptogenic, meaning a specific cause cannot be identified. A subset of those have been classified by some investigators as embolic stroke of undetermined source. However, this remains a controversial category and classification.

Can Anticoagulant Strategies Reduce Covert Brain Infarcts in Patients with Cardiovascular Disease?

Covert brain infarcts are detected on magnetic resonance imaging studies in the aging brain in about 10% of people at age 65 years, increasing to 25% at age 80 years. Most patients who develop dementia have a combination of multiple small infarcts, plus amyloid deposition. Prevention of covert infarcts is a strategy to mitigate the frequency and severity of late-life dementia.

Carotid Endarterectomy vs. Medical Therapy in Patients with Asymptomatic Carotid Stenosis

Multiple randomized clinical trials have demonstrated that carotid endarterectomy is beneficial in patients who have symptomatic carotid stenosis, and currently, that is the recommendation for such patients. However, in the intervening years, advances in medical therapy, as well as significant improvement in the management of blood pressure, diabetes, diet, and exercise, have been shown to reduce stroke rate. Therefore, it is currently controversial whether carotid endarterectomy is still beneficial in asymptomatic patients with carotid artery stenosis compared to current medical management.

Tranexamic Acid and Outcomes in Patients with Moderate or Severe TBI

In this randomized, placebo-controlled trial using tranexamic acid to treat patients with moderate or severe traumatic brain injury within two hours of injury, there was no significant difference between treatment groups in either mortality or functional recovery at six months.

IqYmune for CIDP

IqYmune is a highly purified 10% concentration of human immunoglobulin obtained from healthy volunteers. It appears to have similar efficacy in the treatment of chronic inflammatory demyelinating polyneuropathy (CIDP) as conventional intravenous immunoglobulin, with 76% of the study patients showing a significant improvement in a standardized disability score.

COVID-19 Infection in MS Patients

In a multicenter, retrospective analysis of patients in a multiple sclerosis (MS) registry, the authors described the clinical characteristics and risks associated with severity of complications from COVID-19 infection in patients with MS.

Ketamine for Super-Refractory Status Epilepticus

In this retrospective paper, the authors review the efficacy and safety of ketamine infusion in patients with status epilepticus who have failed benzodiazepine, standard anticonvulsant, and at least one other anesthetic drip.

Gut Microbiome in Patients at Risk for Parkinson’s Disease

Certain risk factors and prodromal markers of Parkinson’s disease (PD), such as constipation and rapid eye movement sleep behavior disorder, are associated with specific bacterial compositions of the gut. However, the value of gut microbiome data to predict the risk of PD development needs further investigation.