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Spastic paraplegia type 4 (SPG4), the predominant form of Autosomal Dominant Hereditary spastic paraplegia (AD-HSP), is characterized by variants in the SPAST gene. This study reports a unique case of a late-onset SPG4 in a Han Chinese male, manifesting primarily as gait disturbances from lower extremity spasticity. Uncovered through whole-genome sequencing, a previously undocumented frameshift variant, c.1545dupA in exon 14 of the SPAST gene, was identified. Notably, this variant was absent in asymptomatic parents with confirmed paternity and maternity status, suggesting a de novo variant occurrence. This discovery emphasizes the potential of de novo variants to exhibit a late-onset pure pattern, extending the SPG4 variant spectrum, and consideration of such variants should be given in HSP patients with a negative family history.

Objective: To study the effects of different approaches of neuroendoscopic treatment on neurological function and complications of patients with hypertensive cerebral hemorrhage. Methods: 72 patients with hypertensive cerebral hemorrhage diagnosed and treated in our hospital were selected as research objects. They were divided into the study group (n = 37) and the control group (n = 35) according to different approaches. The study group was the lateral fissure approach, and the control group was the anterior coronary suture approach. The curative effect, hematoma clearance, postoperative wake time, postoperative cerebral edema, daily living ability, neurological function, and complications in the two groups were observed. Results: The efficacy of the study group was higher than that of the control group, and the differences were statistically significant (P <0.05). The postoperative cerebral edema, postoperative wake time, and postoperative intracranial pressure in the study group were lower than those in the control group, and the hematoma clearance rate in the study group was higher than that in the control group, the differences were statistically significant (P <0.05); At 3 and 6 months after treatment, the daily living ability of the study group was higher than that of the control group, and neurological dysfunction of the study group was lower than that of the control group (P <0.05); The complication rate of the study group was lower than that of the control group (P <0.05); There was no significant difference in mortality rate between the two groups (P> 0.05). Conclusion: Different approaches have different effects on patients with hypertensive intracerebral hemorrhage. Compared with the anterior coronary suture approach, the lateral fissure approach has less damage to nerve function, and has less postoperative complications. [ABSTRACT FROM AUTHOR]