JNS.jpgThe April issue of the Journal of the Neurological Sciences Vol 424 is now available online.

 

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Issue highlights

Approach to patient with unilateral optic disc edema and normal visual function

In patients with swollen optic nerve head and normal visual function, optic disc drusen (ODD) is the most common diagnosis. The best tests for detecting ODD are funds autofluorescence and enhanced-depth imaging ocular coherence tomography (EDIOCT).

After ODD has been ruled out, asymmetric papilledema should be assumed to be the cause and MRI of the brain and orbits with contrast and venography should be performed in all patients.

 


Roles of inflammation in the natural history of intracranial saccular aneurysms

Aneurysmal subarachnoid hemorrhage is caused by intracranial aneurysm (IA) rupture and results in high rates of mortality and morbidity. Factors contributing to IA generation, growth and rupture can involve genetics, injury, hemodynamics, environmental factors, and inflammation, in which inflammatory factors are believed to play central roles in the whole natural history.

Inflammatory reactions that contribute to IA development may involve synthesis of many functional proteins and expression of genes induced by changes of blood flow, external stimuli such as smoking, internal balance such as hormonal status changes, and blood pressure. Meanwhile, inflammatory reactions itself can evoke inflammatory cytokines release and aggregation such as MMPs, MCP-1, TNF-α and ZO-1, directly or indirectly promoting aneurysm growth and rupture. However, the details of these inflammatory reactions and their action on inflammatory chemokines are still unknown. Moreover, some agents with the function of anti-inflammation, lipid-lowering, antihypertension or inflammatory factor inhibition may have the potential benefit to reduce the risk of aneurysm development or rupture in a group of population despite the underlying mechanism remains unclear.

Consequently, we reviewed the potential inflammatory responses and their mechanisms contributing to aneurysm development and rupture and sought intervention targets that may prevent IA rupture or generation.


A systematic review of stereotactic radiofrequency ablation for hypothalamic hamartomas

The seizure activity associated with hypothalamic hamartomas (HHs) is refractory to medical management and surgical intervention is often required. Stereotactic Radiofrequency Ablation (SRFA) is a minimally invasive technique offering targeted lesion ablation with a reduced risk of complications.

Here, we review the current literature on the use of SRFA for HHs.


Rating scales and biomarkers for CAG-repeat spinocerebellar ataxias: Implications for therapy development

Spinocerebellar ataxias (SCAs) are a group of dominantly-inherited cerebellar ataxias, among which CAG expansion-related SCAs are most common. These diseases have very high penetrance with defined disease progression, and emerging therapies are being developed to provide either symptomatic or disease-modifying benefits.

In clinical trial design, it is crucial to incorporate biomarkers to test target engagement or track disease progression in response to therapies, especially in rare diseases such as SCAs.

In this article, we review the available rating scales and recent advances of biomarkers in CAG-repeat SCAs. We divided biomarkers into neuroimaging, body fluid, and physiological studies. Understanding the utility of each biomarker will facilitate the design of robust clinical trials to advance therapies for SCAs.