Objective Stroke is the leading cause of mortality and disability worldwide. However, there is no study on the relationship between red blood cell distribution width and the prognosis of small artery occlusion, which is a stroke subtype. This study aimed to assess the association of red blood cell distribution width at admission with outcomes among patients with small artery occlusion. Methods In this hospital-based follow-up study, all included patients were diagnosed with small artery occlusion. Outcomes included death, recurrence, and dependency at 3, 12, and 36 months after stroke onset. Multivariate analysis was performed to explore the association of red blood cell distribution width with stroke outcomes. Results This study included 1576 patients with small artery occlusion who were followed up at 3, 12, and 36 months. For every unit increase in red blood cell distribution width, the risk of stroke recurrence and dependency increased by 5.1% (95% CI 1.002–1.102, P=0.039) at 3 months after stroke onset. At the 12-month follow-up, for every unit increase in red blood cell distribution width, the risk of stroke recurrence increased by 3.4% (95% CI 1.000–1.069, P=0.047). However, the relationship between red blood cell distribution width and mortality rate was not significant at 36 months after stroke onset after adjustment of covariates. Conclusion Red blood cell distribution width is an important hematological index of small artery occlusion. It may be used to predict the recurrence of acute ischemic stroke in small artery occlusion. Therefore, patients with higher baseline values of red blood cell distribution width may need more risk factor control to reduce recurrence and dependency.

Background Hereditary spastic paraplegia 49 (HSP49) is an autosomal recessive genetic disease first discovered in 2012; and which the mutation primarily affects Bukharian Jewish patients. Case presentation The present case reports the first instance of HSP49 detected in China. The patient had normal mental development and good athletic ability before 10 years old and presented with instable temperature, mental retardation, spastic ataxia, and paroxysmal convulsions. Genetic diagnosis was based on detection of whole exons and two heterozygous variants in the exon region of the TECPR2 gene: c.1729C > T and c.4189G > A. Mutations at these two sites have not been previously reported. Conclusions This case expands the gene mutation spectrum and clinical phenotypic characteristics of autosomal recessive HSP in China; moreover, it indicates differences in the clinical phenotype of HSP49 in different ethnicities. In addition, this reported provides further evidence regarding the effectiveness of targeted next-generation sequencing technology in improving the efficiency and diagnostic rate of genetic diagnosis of HSP.

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