Aging affects the phase coherence between spontaneous oscillations in brain oxygenation and neural activity.

The risk of neurodegenerative disorders increases with age, due to reduced vascular nutrition and impaired neural function. However, the interactions between cardiovascular dynamics and neural activity, and how these interactions evolve in healthy aging, are not well understood. Here, the interactions are studied by assessment of the phase coherence between spontaneous oscillations in cerebral oxygenation measured by fNIRS, the electrical activity of the brain measured by EEG, and cardiovascular functions extracted from ECG and respiration effort, all simultaneously recorded.

Early isolated subarachnoid hemorrhage versus hemorrhagic infarction in cerebral venous thrombosis.

Background: Cerebral venous thrombosis (CVT) is a rare cerebral vascular disease, the presentation of which is highly variable clinically and radiologically. A recent study demonstrated that isolated subarachnoid hemorrhage (iSAH) in CVT is not as rare as thought previously and may have a good prognostic significance. Hemorrhagic venous infarction, however, is an indicator of an unfavorable outcome.

Heart Rate Variability in Huntington Disease: A Long-Term Longitudinal Study.

Introduction: The aim of the study was to follow tonic and phasic autonomic nervous activity in Huntington disease (HD) mutation carriers and patients.

Methods: Evaluation of motor functions and total functional capacity was performed in 30 HD mutation carriers or patients at the beginning and in 22 subjects after 8-10 years. Continuous arterial blood pressure, heart rate (HR), and ECG at rest were measured, and HR variability analysis was performed in four different ways.

Stroke and antiphospholipid syndrome-antiphospholipid antibodies are a risk factor for an ischemic cerebrovascular event.

Testing for antiphospholipid antibodies could be an important part in determining the cause of a cerebrovascular event (CVE). Currently, it is also unknown whether antiphospholipid antibodies represent a risk factor for the development of a CVE and whether the selected therapy options are efficacious. So, this study aimed at (1) determining the frequency of patients experiencing a CVE and fulfilling the laboratory criterion for an antiphospholipid syndrome (APS), (2) investigating whether the persistent presence of antiphospholipid antibodies represented a risk factor for a CVE, and (3) focusing on the efficacy of the selected treatment strategy in the first year after the CVE.

Evidence of cardiac electrical remodeling in patients with Huntington disease.

Objective: Although Huntington's disease (HD) is a disease of the central nervous system, HD mortality surveys indicate heart disease as a major cause of death. Cardiac dysfunction in HD might be a primary consequence of peripherally expressed mutant huntingtin or secondary to either a general decline in health or the onset of neurological dysfunction. The aim of the study was to clarify the heart muscle involvement.

Anorectal Dysfunction in Presymptomatic Mutation Carriers and Patients with Huntington's Disease.

Background: Huntington's disease (HD) patients often report anorectal dysfunction; however, in HD research no detailed analysis of these complaints has been published.

Objective: To report anorectal dysfunction in a systematically studied cohort of HD subjects.

Methods: In 54 HD patients (24 men) and 10 presymptomatic HD mutation carriers (2 men) and in 99 controls (44 men) a history of anal incontinence and constipation was obtained and data was compared accordingly.

Female Sexual Dysfunction in Presymptomatic Mutation Carriers and Patients with Huntington's Disease.

Background: Although in Huntington's disease (HD) movement, cognition, and personality are most significantly affected, autonomic dysfunction should not be neglected. In women with HD sexual dysfunction has not been adequately studied yet.

Objective: To report sexual dysfunction in a systematically studied cohort of female HD patients and compare it with controls of a similar age.

Functional impairment of precerebral arteries in Huntington disease.

Background: Cardiovascular pathology of Huntington disease (HD) appears to be complex; while microvascular dysfunction seems to appear early, deaths from cardiomyopathy and stroke might occur in the late phase of HD.

Methods: Our study evaluated global risk factors for coronary heart disease (CHD), structure and function of precerebral arteries in 41 HD subjects and 41 matched controls. HD subjects were divided into groups by the United Huntington disease rating scale (presymptomatic-PHD, early-EHD, midstage-MHD and late-LHD).

Bladder dysfunction in presymptomatic gene carriers and patients with Huntington's disease.

The objective of this study was to report bladder dysfunction and cystometric findings in a systematically studied cohort of Huntington's disease (HD) patients. In HD patients and asymptomatic HD gene carriers a urinary function questionnaire, neurologic assessment using the Unified Huntington's Disease Rating Scale, and postvoid residual volume measurement were applied. All patients were also invited to cystometric studies.

Cognitive function in early clinical phase huntington disease after rivastigmine treatment.

Background: In Huntington disease (HD) patients receiving rivastigmine treatment improvement of behavioral symptoms and of cognitive function (assessed with screening diagnostic instruments) has been reported. The aim of the present study was to verify such improvement in cognitive function by cognitive function assessment with a detailed neuropsychological battery covering all relevant cognitive systems expected to be impaired in early phase HD.

Subjects And Methods: Eighteen (18) HD patients entered the study and were randomly allocated to the rivastigmine and placebo group.

Chorea-acanthocytosis presenting as dystonia.

The aim of this article is to present two Slovenian chorea-acanthocytosis (ChAc) siblings with an unusual predominantly dystonic ChAc phenotype. For diagnostic purposes, the genomic DNA was screened for VPS13A mutations. Movement disorder was evaluated and scored according to the Dystonia Movement and Disability Scale (DMDS) in order to evaluate the effects of L-dopa on dystonia.

Cognitive and autonomic dysfunction in presymptomatic and early Huntington's disease.

Huntington's disease is characterized by disorders of movement, cognition and behavior. Individuals with Huntington's disease display aberrant changes in the autonomic nervous system that are detected even before the onset of other symptoms. Subtle cognitive dysfunction may start before other clinical manifestations.

Diagnostic value of cytokines and chemokines in lyme neuroborreliosis.

The aims of the present study were to assess the concentrations of different cytokines and chemokines in blood serum and cerebrospinal fluid (CSF) samples of patients with Lyme neuroborreliosis and to identify the possible marker(s) that would enable a distinction between clinically evident and suspected Lyme neuroborreliosis, as well as between Lyme neuroborreliosis and tick-borne encephalitis (TBE). Our additional interest was to evaluate the relationship between cytokine and chemokine concentrations and Borrelia burgdorferi sensu lato isolation from CSF, as well as intrathecal synthesis of specific borrelial antibodies. We found that higher concentrations of CXCL13 and lower concentrations of interleukin 10 (IL-10) in serum were associated with higher odds for clinically evident Lyme neuroborreliosis compared to suspected Lyme neuroborreliosis, as well as to TBE.

No electrophysiological evidence for Onuf's nucleus degeneration causing bladder and bowel symptoms in Huntington's disease patients.

Aims: In several degenerative neurologic diseases degeneration of Onuf's nucleus has been demonstrated using histologic and electromyographic (EMG) methods. Although Huntington's disease (HD) patients also frequently complain of bladder and bowel symptoms, degeneration of Onuf's nucleus has not been systematically studied in this group.

Methods: From our inventory of patients with genetically confirmed HD, all patients willing and capable of participating in the study, which utilized several standard questionnaires, were included.

Microcirculation response to local cooling in patients with Huntington's disease.

Altered autonomic nervous system (ANS) functioning in early stages of Huntington's disease (HD) has been suggested, presumably due to distorted high-order autonomic control. ANS functioning in the early stages of HD was further investigated. Laser-Doppler (LD) flux in the skin of the fingertips, heart rate (HR), HR variability, systolic and diastolic blood pressure were measured during rest and during a 6 min cooling of one hand at 15°C.

Novel pathogenic mutations and copy number variations in the VPS13A gene in patients with chorea-acanthocytosis.

Chorea-acanthocytosis (ChAc) is a rare autosomal recessive neurodegenerative disorder caused by loss of function mutations in the vacuolar protein sorting 13 homolog A (VPS13A) gene that encodes chorein. It is characterized by adult-onset chorea, peripheral acanthocytes, and neuropsychiatric symptoms. In the present study, we performed a comprehensive mutation screen, including sequencing and copy number variation (CNV) analysis, of the VPS13A gene in ChAc patients.

Autonomic dysfunction in presymptomatic and early symptomatic Huntington's disease.

Objectives: Although autonomic dysfunction was found in advanced Huntington's disease (HD) patients it is not clear whether there is autonomic dysfunction in presymptomatic and early symptomatic HD.

Material & Methods: Different cardiovascular autonomic tests were performed in 14 presymptomatic HD mutation carriers (PHD), 11 early symptomatic HD patients (EHD) and in 25 sex and age matched controls.

Results: We found attenuated response to simple mental arithmetic test (relative heart rate in PHD and EHD was 10% lower than in controls; diastolic pressure was 10.

Gene expression changes in blood as a putative biomarker for Huntington's disease.

Several studies demonstrated alterations of gene expression in blood in various neurological disorders including Huntington's disease (HD). Using microarray technology, a recent study identified a large number of significantly altered mRNAs in HD blood, from which a 12-gene set was selected as classifier for discriminating controls and HD patients. The aim of our study was to validate expression changes of these 12 genes in an independent cohort of HD patients and evaluate their sensitivity and specificity.

Epidemiology of Huntington's disease in Slovenia.

Objectives: The objective of this study was to estimate the prevalence of Huntington's disease (HD) in Slovenia using direct mutation analysis.

Materials And Methods: Symptomatic patients and presymptomatic individuals at risk for HD referred to the Institute of Medical Genetics between 1997 and 2007 were included in the study. The patients were ascertained through multiple sources.

Hemochromatosis-causing mutations C282Y and H63D are not risk factors for atherothrombotic cerebral infarction.

Background: It has been suggested that iron metabolism may be involved in the pathogenesis of atherothrombotic cerebral infarction (ACI). The C282Y and H63D mutations in the hemochromatosis (HFE) gene are associated with increased serum iron levels and net iron accumulation. The aim of this study was to test the hypothesis that the C282Y and H63D mutations in the HFE gene are risk factors for ACI in a Slovene population.

Early sympathetic hyperactivity in Huntington's disease.

To investigate whether Huntington's disease (HD) affects autonomic nervous system (ANS) functioning 33 subjects with positive genetic test results were studied. The subjects were classified according to Shoulson and Fahn (S&F) HD disability scale into three subgroups: subgroup 1 (eight asymptomatic gene carriers), subgroup 2 (13 mildly disabled HD patients) and subgroup 3 (eight moderately and four severely disabled HD patients). A battery of cardiovascular autonomic tests (Valsalva maneuver, deep breathing test, sustained handgrip test, orthostatic test) and the spectral analysis of heart rate variability (HRV) were performed.

Prothrombotic gene polymorphisms and atherothrombotic cerebral infarction.

Objectives: To test the hypothesis whether risk genotypes of the prothrombotic gene polymorphisms (I/D 4G5G PAI-1, G1691A factor V point mutation, factor VII Arg/Gln353) are risk factors for ACI in the Slovene population. The study sought an association between the insertion/deletion 4G/5G-plasminogen activator inhibitor 1 (PAI-1) gene polymorphism, the 1691G-A factor V point mutation or the arg353-to-gln factor VII gene polymorphism and atherothrombotic cerebral infarction (ACI).

Material And Methods: Ninety-six Slovene patients who suffered ACI were compared with 115 control subjects clinically free of cerebrovascular disease.