This paper presents the results of investigations of 199 apparently healthy individuals aged 18-22 years. Analysis of the findings yielded concepts of the types of cerebral circulation--the types of cerebral microcirculation and the variants brain volumia--the variants of summarized pulse blood filling of this organ. To define the types and variants of cerebral hemodynamics makes it possible to predict the magnitude and direction of brain vasomotor responses aimed at optimizing arterial blood stream into the region and venous blood outflow under antiorthostasis. The types and variants of cerebral circulation that most and least favourable as to a risk for regional venous congestion. The views of the types and variants of cerebral circulation open up fresh opportunities for in-depth study of the most important parameters of cardiovascular performance. A typological analysis of cerebral circulation can find a wide application in clinical practice for "the passportization" of the most important physiological parameters of regional blood flow.
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NMC Case Rep J
December 2024
Department of Neurological Surgery, Nippon Medical School, Tokyo, Japan.
Persistent primitive olfactory arteries (PPOAs) are a rare variant of the anterior cerebral artery (ACA). Cerebral aneurysms may arise in the PPOA; most are saccular and on the unilateral PPOA. We report a 66-year-old male with bilateral PPOAs and a fusiform aneurysm on the left side detected at a health check-up.
View Article and Find Full Text PDFMol Brain
January 2025
Xuanwu Hospital, China-America Institute of Neurology, Capital Medical University, No. 45, Changchun Street, Xicheng District, Beijing, China.
It is unclear how steroid hormones contribute to stroke, and conducting randomized controlled trials to obtain related evidence is challenging. Therefore, Mendelian randomization (MR) technique was employed in this study to examine this association. Through genome-wide association meta-analysis, the genetic variants of steroid hormones, including testosterone/17β-estradiol (T/E2) ratio, aldosterone, androstenedione, progesterone, and hydroxyprogesterone, were acquired as instrumental variables.
View Article and Find Full Text PDFJ Neural Transm (Vienna)
January 2025
Section of Adult Neurology, Department of Internal Medicine, Chong Hua Hospital, Fuente, Cebu, Philippines.
Joubert Syndrome (JS) is a congenital cerebellar ataxia typically inherited in an autosomal recessive pattern, although rare X-linked inheritance can occur. It is characterized by hypotonia evolving into ataxia, global developmental delay, oculomotor apraxia, breathing dysregulation, and multiorgan involvement. To date, there are 40 causative genes implicated in JS, all of which encode proteins of the primary cilium.
View Article and Find Full Text PDFSci Rep
January 2025
Division for Neurogeriatrics, Centre for Alzheimer Research, Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm, Sweden.
Copy number variation (CNV) of the amyloid-β precursor protein gene (APP) is a known cause of autosomal dominant Alzheimer disease (ADAD), but de novo genetic variants causing ADAD are rare. We report a mother and daughter with neuropathologically confirmed definite Alzheimer disease (AD) and extensive cerebral amyloid angiopathy (CAA). Copy number analysis identified an increased number of APP copies and genome sequencing (GS) revealed the underlying complex genomic rearrangement (CGR) including a triplication of APP with two unique breakpoint junctions (BPJs).
View Article and Find Full Text PDFAJNR Am J Neuroradiol
January 2025
Ataxia Center, Cognitive Behavioral Neurology Unit, Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology (J.D.S., Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts.
Background And Purpose: Symptoms indistinguishable from behavioral-variant frontotemporal dementia (bvFTD) can develop in patients with spontaneous intracranial hypotension associated with severe brain sagging. An underlying spinal CSF leak can be identified in only a minority of these patients and the success rate of nondirected treatments, such as epidural blood patching and dural reduction surgery, is low. The disability associated with bvFTD sagging brain syndrome is high and, because of the importance of the venous system in the pathophysiology of CSF leaks in general, we have investigated the systemic venous circulation in those patients with recalcitrant symptoms.
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