JNS.jpgThe April issue of the Journal of the Neurological Sciences Vol 447 is now available online.


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Issue highlights

Research Article

Nonlinear relationship between pulse pressure and risk of cognitive impairment: A 4-year community-based cohort study in Xi'an, China

Zhou et al.

Published online: March 10, 2023

It has been known that pulse pressure (PP) is a risk factor for cardiovascular disease and stroke, however, the relationship between PP and cognitive impairment is unclear.

This was a community-based cohort study. Participates were followed-up for 4 years and new-onset cognitive impairment was diagnosed. Multivariable logistic regression and restricted cubic spline (RCS) were used to investigate the relationship between PP and cognitive impairment. Propensity score matching (PSM) and sensitivity analysis among ApoEε4 non-carriers were performed to confirm the results.

PP is associated with cognitive impairment in a non-linear manner among middle-aged and elderly. The risk of cognitive impairment increases rapidly when PP exceeds about 46.7 mmHg, which may be informative for subsequent research of PP control ranges.

Review Article | Open Access

The evolution of comprehensive genetic analysis in neurology: Implications for precision medicine

Papadopoulou et al.

Published online: March 4, 2023

Technological advancements have facilitated the availability of reliable and thorough genetic analysis in many medical fields, including neurology. In this review, we focus on the importance of selecting the appropriate genetic test to aid in the accurate identification of disease utilizing currently employed technologies for analyzing monogenic neurological disorders. Moreover, the applicability of comprehensive analysis via NGS for various genetically heterogeneous neurological disorders is reviewed, revealing its efficiency in clarifying a frequently cloudy diagnostic picture and delivering a conclusive and solid diagnosis that is essential for the proper management of the patient.

The feasibility and effectiveness of medical genetics in neurology require interdisciplinary cooperation among several medical specialties and geneticists, to select and perform the most relevant test according to each patient's medical history, using the most appropriate technological tools.

The prerequisites for a comprehensive genetic analysis are discussed, highlighting the utility of appropriate gene selection, variant annotation, and classification. Moreover, genetic counseling and interdisciplinary collaboration could improve diagnostic yield further. Additionally, a sub-analysis is conducted on the 1,502,769 variation records with submitted interpretations in the Clinical Variation (ClinVar) database, with a focus on neurology-related genes, to clarify the value of suitable variant categorization.

Finally, we review the current applications of genetic analysis in the diagnosis and personalized management of neurological patients and the advances in the research and scientific knowledge of hereditary neurological disorders that are evolving the utility of genetic analysis towards the individualization of the treatment strategy.

Research Article

Association of non-sustained atrial tachycardia and its duration in 24-h Holter monitoring with embolic stroke of unknown source

Choi et al.

Published online: March 4, 2023

Although supraventricular ectopic beats (SVE), including premature atrial contractions (PACs) and non-sustained atrial tachycardia (NSAT), are frequent in the general population, some study results indicate that they are pathologic. SVE may predict undiagnosed atrial fibrillation or be associated with the embolic pattern of ischemic stroke. The aim of this study was to identify the indicators most associated with embolic stroke among the parameters that suggest the burden of SVE.

We enrolled 426 (SVO: 310 vs. ESUS: 116) patients who met the inclusion criteria. In the 24-h Holter monitoring parameters, total number of PACs and PAC-to-total beat ratio were not significantly different between the two groups. However, NSATs were more frequent, and the duration of the longest NSAT was longer in the ESUS group. Multivariate logistic regression revealed that high brain natriuretic peptide levels, presence of NSAT, history of previous stroke, and the longest NSAT duration significantly correlated with the ESUS etiology.

The presence of NSAT and its duration are more important indicators of embolic stroke than the frequency of PACs is. Therefore, considering secondary prevention in AIS patients with ESUS, 24-h Holter monitoring parameters, such as the presence of NSAT and its duration, could be considered as potential sources of cardio-embolism.

Research Article | Open Access

Association between cerebrospinal fluid parameters and developmental and neurological status in glucose transporter 1 deficiency syndrome

Nabatame et al.

Published online: March 1, 2023

In glucose transporter 1 deficiency syndrome (Glut1DS), cerebrospinal fluid glucose (CSFG) and CSFG to blood glucose ratio (CBGR) show significant differences among groups classified by phenotype or genotype. The purpose of this study was to investigate the association between these biochemical parameters and Glut1DS severity.

The severity of Glut1DS can be predicted from CSF parameters. Glucose and lactate are independent contributors to the developmental and neurological status in Glut1DS.