Gerstmann-Sträussler-Scheinker disease: A case report.

BACKGROUND: Gerstmann-Sträussler-Scheinker (GSS) disease is an inherited prion disease that is clinically characterized by the early onset of progressive cerebellar ataxia. The incidence of GSS is extremely low and it is particularly rare in China. Therefore, clinicians may easily confuse this disease with other diseases that also cause ataxia, resulting in its under-diagnosis or misdiagnosis. CASE SUMMARY: Here, we report the first case of genetically diagnosed GSS disease in Northeast China. The patient exhibited typical ataxia and dysarthria 2.5 years after symptom onset. However, magnetic resonance imaging of the brain and spinal cord revealed a normal anatomy. Screening results for the spinocerebellar ataxia gene were also negative. We thus proposed to expand the scope of genetic screening to include over 200 mutations that can cause ataxia. A final diagnosis of GSS was presented and the patient was followed for more than 3.5 years, during which we noted imaging abnormalities. The patient gradually exhibited decorticate posturing and convulsions. We recommended administration of oral sodium valproate, which resolved the convulsions. CONCLUSION: Patients with inherited ataxia should be considered for a diagnosis of GSS via genetic testing at an early disease stage.

Noninvasive and quantitative intracranial pressure estimation using ultrasonographic measurement of optic nerve sheath diameter.

We aimed to quantitatively assess intracranial pressure (ICP) using optic nerve sheath diameter (ONSD) measurements. We recruited 316 neurology patients in whom ultrasonographic ONSD was measured before lumbar puncture. They were randomly divided into a modeling and a test group at a ratio of 7:3. In the modeling group, we conducted univariate and multivariate analyses to assess associations between ICP and ONSD, age, sex, BMI, mean arterial blood pressure, diastolic blood pressure. We derived the mathematical function "Xing &Wang" from the modelling group to predict ICP and evaluated the function in the test group. In the modeling group, ICP was strongly correlated with ONSD (r = 0.758, p < 0.001), and this association was independent of other factors. The mathematical function was ICP = -111.92 + 77.36 × ONSD (Durbin-Watson value = 1.94). In the test group, a significant correlation was found between the observed and predicted ICP (r = 0.76, p < 0.001). Bland-Altman analysis yielded a mean difference between measurements of -0.07 ± 41.55 mmH2O. The intraclass correlation coefficient and its 95%CIs for noninvasive ICP assessments using our prediction model was 0.86 (0.79-0.90). Ultrasonographic ONSD measurements provide a potential noninvasive method to quantify ICP that can be conducted at the bedside.

Cortical spreading depression-induced preconditioning in the brain.

Cortical spreading depression is a technique used to depolarize neurons. During focal or global ischemia, cortical spreading depression-induced preconditioning can enhance tolerance of further injury. However, the underlying mechanism for this phenomenon remains relatively unclear. To date, numerous issues exist regarding the experimental model used to precondition the brain with cortical spreading depression, such as the administration route, concentration of potassium chloride, induction time, duration of the protection provided by the treatment, the regional distribution of the protective effect, and the types of neurons responsible for the greater tolerance. In this review, we focus on the mechanisms underlying cortical spreading depression-induced tolerance in the brain, considering excitatory neurotransmission and metabolism, nitric oxide, genomic reprogramming, inflammation, neurotropic factors, and cellular stress response. Specifically, we clarify the procedures and detailed information regarding cortical spreading depression-induced preconditioning and build a foundation for more comprehensive investigations in the field of neural regeneration and clinical application in the future.