JNS.jpgThe April issue of the Journal of the Neurological Sciences Vol 423 is now available online.

 

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Issue highlights

The relationship between cerebral and retinal microbleeds in cerebral amyloid angiopathy (CAA): A pilot study

The standard in vivo diagnostic imaging technique for cerebral amyloid angiopathy (CAA) is costly and thereby of limited utility for point-of-care diagnosis and monitoring of treatment efficacy. Recent recognition that retinal changes may reflect cerebral changes in neurodegenerative disease provides an ideal opportunity for development of accessible and cost-effective biomarkers for point-of-care use in the detection and monitoring of CAA.

In this pilot study, we examined structural and angiographic retinal changes in CAA patients relative to a control group, and compared retinal and cerebral pathology in a group of CAA patients.


Highly sensitive screening of antisense sequences for different types of DMD mutations in patients' urine-derived cells

Exon skipping using short antisense oligonucleotides (AONs) is a promising treatment for Duchenne muscular dystrophy (DMD). Several exon-skipping drugs, including viltolarsen (NS-065/NCNP-01), have been approved worldwide.

The purpose of this study was to investigate whether the conventional system using rhabdomyosarcoma cells could be replaced with an in vitro drug screening system using UDCs. To that end, we investigated whether sufficient numbers of UDCs could be obtained for screening and whether treatment with various sequences of AON could detect dose-dependent exon skipping in UDCs. Because the most common patients with DMD eligible for exon skipping were those with a mutation amenable to skipping exon 51, we used UDCs from them in the present study.

An essential finding of this study is that the sequence of eteplirsen consistently leads to much lower efficiency than other sequences. These findings underscore the importance of AON sequence optimization by our cellular system, which enables highly sensitive screening of exon skipping drugs that target different types of DMD mutations.


Early neuropsychological markers of cognitive involvement in multiple sclerosis

Cognitive impairment due to multiple sclerosis (MS) is common and often limits occupational functioning, contributes to disability, and reduces quality of life. Early detection of cognitive involvement in MS is critical for treatment planning and intervention, and frequent, regular cognitive monitoring may provide insight into subtle changes in disease progression.

Thi study compares the sensitivity and specificity of clinical, computer-based and experimental measures to early cognitive involvement in MS.


Are there disparities in acute stroke treatment between the Jewish and Arab populations in Israel? Results from the National Acute Stroke Israeli registry

According to the latest reported data from the National Acute Stroke Israeli Survey (NASIS), around 18,000 strokes occur annually in Israel. Data regarding disparities in stroke care between the Jewish and the Arab populations in Israel are lacking.

We wished to compare demographics, comorbidities, stroke characteristics and outcomes between Jewish and Arab stroke patients in Israel that were acutely treated with intravenous thrombolysis (IVT) and/or endovascular thrombectomy (EVT), in order to test if there are disparities or any ethnic-specific parameters.