Objectives
To assess the time and frequency domain measures of cardiac autonomic activity/tone in patients of genetically defined spinocerebellar ataxia (SCA) types 1 and 2, as well as to decipher ...the probable associations among the cardiovascular autonomic parameters and genetic and clinical characteristics.
Materials and methods
Simultaneous 5‐min recording of RR interval (RRI) and blood pressure (BP) for the calculation of heart rate variability (HRV), blood pressure variability (BPV) and baroreflex sensitivity (BRS) were performed in genotypically confirmed SCA1 (n = 31) and SCA2 (n = 40) patients and healthy controls (n = 40). Additionally, the International Cooperative Ataxia Rating Scale (ICARS) was used for scoring of clinical severity in SCA patients.
Results
Time and frequency domain parameters of HRV, BPV and BRS were depressed in SCA1 and SCA2 subtypes as compared to controls, although there was no statistically significant difference in autonomic tone between the two SCA subtypes. On correlation analysis, autonomic tone parameters were found to be associated with the clinical and genetic features of the SCA subtypes. Also, ICARS was associated with the genotype (CAG repeat length) in SCA2 patents.
Conclusions
Cardiac autonomic tone is depressed in both SCA1 and 2 as compared to healthy controls while the two SCA subtypes do not differ in terms of autonomic tone. Also, a typical association exists between disease characteristics and autonomic indices.
Primary CNS Vasculitis (PCNSV) is a rare, diverse, and polymorphic CNS blood vessel inflammatory condition. Due to its rarity, clinical variability, heterogeneous imaging results, and lack of ...definitive laboratory markers, PCNSV diagnosis is challenging. This retrospective cohort analysis identified patients with histological diagnosis of PCNSV. Demographic data, clinical presentation, neuroimaging studies, and histopathologic findings were recorded. We enrolled 56 patients with a positive biopsy of CNS vasculitis. Most patients had cerebral hemisphere or brainstem symptoms. Most brain MRI lesions were bilateral, diffuse discrete to confluent white matter lesions. Frontal lobe lesions predominated, followed by inferior cerebellar lesions. Susceptibility-weighted imaging (SWI) hemorrhages in 96.4% (54/56) of patients, either solitary microhemorrhages or a combination of micro and macrohemorrhages. Contrast-enhanced T1-WIs revealed parenchymal enhancement in 96.3% (52/54 patients). The most prevalent pattern of enhancement observed was dot-linear (87%), followed by nodular (61.1%), perivascular (25.9%), and patchy (16.7%). Venulitis was found in 19 of 20 individuals in cerebral DSA. Hemorrhages in SWI and dot-linear enhancement pattern should be incorporated as MINOR diagnostic criteria to diagnose PCNSV accurately within an appropriate clinical context. Microhemorrhages in SWI and venulitis in DSA, should be regarded as a potential marker for PCNSV.
Background: The recovery of the upper-limb (UL) motor function after ischemic stroke (IS) remains a major scientific, clinical, and patient concern and it is hard to predict alone from the clinical ...symptoms. Objective: To determine the accuracy of the prediction of the recovery of UL motor function in patients with acute ischemic middle cerebral artery (MCA) stroke using individual clinical, transcranial magnetic stimulation (TMS) or diffusion tensor imaging (DTI) parameters or their combination. Methods and Material: The first-ever acute ischemic MCA stroke patients within 7 days of the stroke onset who had an obvious UL motor deficit underwent TMS for the presence of motor-evoked potential (MEP) and DTI to evaluate the integrity of corticospinal tracts. Multivariate logistic regression analysis was done to test for the accuracy of the prediction of the recovery of UL motor function. Results: Twenty-nine acute ischemic MCA stroke patients (21 males and 8 females) with a mean age of 51.45 ± 14.26 years were recruited. Model-I included clinical scales (Fugl-Meyer Assessment FMA + Motricity Index MI) + TMS (MEP) + DTI (fractional anisotropy FA) were found to be the most accurate predictive model, with the overall predictive ability (93.3%; 95% confidence interval CI: 0.87-0.99) and sensitivity: 94.9% (95% CI: 0.87-1.0) and specificity: 95.8% (95% CI: 0.89-1.0); respectively. Conclusion: The accuracy of UL motor recovery can be predicted through the clinical battery and their elements as well as TMS (MEP) and DTI (FA) parameters. Further, well-designed prospective studies are needed to confirm our findings.
Tandem nucleotide repeat (TNR) expansions, particularly the CNG nucleotide configuration, are associated with a variety of neurodegenerative disorders. In this study, we aimed to identify novel ...unstable CNG repeat loci associated with the neurogenetic disorder spinocerebellar ataxia (SCA). Using a computational approach, 15,069 CNG repeat loci in the coding and noncoding regions of the human genome were identified. Based on the feature selection criteria (repeat length >10 and functional location of repeats), we selected 52 repeats for further analysis and evaluated the repeat length variability in 100 control subjects. A subset of 19 CNG loci observed to be highly variable in control subjects was selected for subsequent analysis in 100 individuals with SCA. The genes with these highly variable repeats also exhibited higher gene expression levels in the brain according to the tissue expression dataset (GTEx). No pathogenic expansion events were identified in patient samples, which is a limitation given the size of the patient group examined; however, these loci contain potential risk alleles for expandability. Recent studies have implicated GLS, RAI1, GIPC1, MED15, EP400, MEF2A, and CNKSR2 in neurological diseases, with GLS, GIPC1, MED15, RAI1, and MEF2A sharing the same repeat loci reported in this study. This finding validates the approach of evaluating repeat loci in different populations and their possible implications for human pathologies.Potential risk alleles in neurological diseases: CNG repeat analysisSpinocerebellar ataxia and similar muscle and nerve disorders are caused by certain repeated DNA sequences expanding, disrupting normal cell function. In this study, researchers used computer methods to find new DNA repeat expansions that could cause these disorders. They combined computer analysis with genetic testing in a study involving 100 patients with unexplained muscle and nerve disorder symptoms. This method aimed to find cost-effective ways to identify disease-causing genetic changes. The results showed several new unstable DNA repeat expansions that could potentially cause muscle and nerve disorders, although none were definitively linked to the disease in this patient group. The researchers conclude that their method offers a promising way to discover new genetic causes of muscle and nerve disorders. This approach could lead to better diagnosis and understanding of these diseases in the future.This summary was initially drafted using artificial intelligence, then revised and fact-checked by the author.
Background: Several observational studies have reported the prevalence of cerebral microbleeds (CMBs) and their risk factors in an elderly population. Any information in this regard is currently ...lacking from India. Aim of this study was to estimate the prevalence, risk factors of CMBs, and association with cognition in an Indian urban population aged 50 years and above. Methods: Household surveys were conducted as part of ongoing Longitudinal Cognition and Aging Research on Population of the National Capital Region (LoCARPoN) study in areas of urban Delhi. Magnetic resonance imaging of the brain was performed in 2599 participants. Using standard neuropsychological battery, mean Z-scores for each domain (memory, executive, information) were derived. Binary and stepwise logistic regression models were used to determine associated risk factors for the presence of CMB and its association with cognitive domains. Results: The prevalence of CMBs was 14.42% (95% confidence interval CI: 13.06–15.73). Of these, 203 (7.81%) participants had single CMBs and 172 (6.61%) had multiple microbleeds (≥2). Higher prevalence was observed in older age (60–70 years: odds ratio OR: 1.25 95% CI: 0.93–1.67; 70–80 years: OR: 2.05 95% CI: 1.48–2.84; ≥80 years: OR: 3.27 95% CI: 1.97–5.44) compared to individuals in the age group 50–60 years. History of stroke (OR: 2.97 95% CI: 1.56–5.66), hypertension (OR: 1.36 95% CI: 1.05–1.75), and smoking (OR: 1.43 95% CI: 1.11–1.85) was associated with at least one CMB. Multiple CMBs were associated with worse scores in memory and executive domains. Conclusion: Older age, hypertension, history of stroke, and history of smoking emerged as important risk factors for the presence of multiple CMBs. Follow-up study is required to determine implications of CMBs.
Background: Parkinson's disease (PD) is a neurodegenerative disease perceived as a motor disorder. It is most commonly associated with autonomic dysfunction, affecting multiple systems. This altered ...autonomic control might be reflected by a parallel change in the airway caliber of these patients. Aim: To correlate the pulmonary impairment in patients with Parkinson's disease with the underlying dysautonomia. Materials and Methods: A total of 30 patients with Parkinson's disease participated in the study. Heart rate (HR) variability was recorded for 5 min to assess the autonomic dysfunction, followed by impulse oscillometry (IOS) and spirometry. IOS being an effort independent technique uses sound waves at different frequencies (5-25 Hz) to measure the airway impedance. Results: There was a significant decrease in SDSD (6.60 (10.18-6.01) vs. 12.22 (13.95-11.30); P = 0.04), RMSSD (6.59 (10.17-5.50) vs. 12.20 (13.93-11.28); P = 0.04), and total power (315.8 (506.3-120.7) vs. 771.3 (799.0-643.6); P = 0.04) in stage II as compared to stage I. Resistance at 20 Hz (R20) was found to be positively correlated with SDSD (r = 0.40, P = 0.04), RMSSD (r = 0.40, P = 0.04), and HF (r = 0.41, P = 0.03). Conclusion: Amongst the PD population, any changes in the parasympathetic component (responsible for bronchoconstriction) due to the underlying dysautonomia might be reflected as increased airway resistance in the pulmonary system.
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