Characterization of movement disorders in patients with familial Creutzfeldt-Jakob disease carrying the E200K mutation.

Background: While myoclonus and ataxia are considered common in patients with familial Creutzfeld-Jakob disease (fCJD), other movement disorders are less prevalent.

Objectives: To systemically evaluate the frequency of extrapyramidal signs and movement disorders in patients with fCJD.

Methods: A detailed neurological examination, with special emphasis on movement disorders and extrapyramidal signs, was conducted in 43 consecutive symptomatic CJD patients (26 males and 17 females; mean age 58.

The EEG in E200K familial CJD: relation to MRI patterns.

The aim of the study was to examine the relationship between EEG abnormalities and the pattern of MRI changes in familial Creutzfeldt-Jakob Disease (fCJD) patients with E200K mutation. As part of a controlled, prospective study, 13 E200K fCJD patients underwent comprehensive evaluations, with EEG and an extensive MRI protocol that included one of the most prion-disease sensitive sequences, diffusion-weighted imaging (DWI). The relationship between EEG abnormalities and the pattern of DWI hyperintensities was examined.

Hypertension impairs vascular reactivity in the pediatric brain.

Background And Purpose: Chronic hypertension impairs cerebrovascular regulation in adults, but its effects on the pediatric population are unknown. The objective of this study was to investigate cerebrovascular abnormalities in hypertensive children and adolescents.

Methods: Sixty-four children and adolescents aged 7 to 20 years underwent transcranial Doppler examinations of the middle cerebral artery at the time of rebreathing CO2.

(99m)Tc hexamethyl-propylene-aminoxime single-photon emission computed tomography prediction of conversion from mild cognitive impairment to Alzheimer disease.

Objective: To examine the utility of single-photon emission computed tomography (SPECT) to predict conversion from mild cognitive impairment (MCI) to Alzheimer disease (AD).

Design: Longitudinal, prospective study.

Setting: University-based memory disorders clinic.

Pruritus in familial Creutzfeldt-Jakob disease: a common symptom associated with central nervous system pathology.

Pruritus, a common feature of animal prion diseases such as scrapie, is rarely reported in humans with Creutzfeldt-Jakob disease (CJD), and its anatomical background is not well defined. The present study was undertaken to carry out a methodical prospective search for the prevalence of pruritus in CJD patients and investigate its anatomical substrate by MRI. The study group included consecutive familial and sporadic CJD patients carrying the E200K PRNP mutation followed up in a longitudinal prospective study between the years 2005 and 2008.

The effects of hypertension on the paediatric brain: a justifiable concern.

The prevalence of hypertension in children is increasing but its neurological effects are under-recognised. Here, we describe acute and chronic effects of childhood hypertension on the nervous system. Acute neurological involvement ranges from posterior reversible encephalopathy syndrome to, possibly, infarction and haemorrhage.

Web-based multi-center data management system for clinical neuroscience research.

Modern clinical research often involves multicenter studies, large and heterogeneous data flux, and intensive demands of collaboration, security and quality assurance. In the absence of commercial or academic management systems, we designed an open-source system to meet these requirements. Based on the Apache-PHP-MySQL platform on a Linux server, the system allows multiple users to access the database from any location on the internet using a web browser, and requires no specialized computer skills.

Putaminal volume and diffusion in early familial Creutzfeldt-Jakob disease.

Background: The putamen is centrally implicated in the pathophysiology of Creutzfeldt-Jakob Disease (CJD). To our knowledge, its volume has never been measured in this disease. We investigated whether gross putaminal atrophy can be detected by MRI in early stages, when the diffusion is already reduced.

MRI detection of the cerebellar syndrome in Creutzfeldt-Jakob disease.

Creutzfeldt-Jakob Disease (CJD) is characterized by bilateral basal ganglia hyperintensities on T2W and diffusion-weighted imaging (DWI) magnetic resonance imaging (MRI) scans, consistent with its extrapyramidal neurological manifestations. MRI is diagnostically uninformative about the cerebellar symptoms, equally prominent in CJD. This study was undertaken to explain this apparent paradox.

Neural correlates of emotion processing in borderline personality disorder.

Emotional instability is a hallmark feature of borderline personality disorder (BPD), yet its biological underpinnings are poorly understood. We employed functional magnetic resonance imaging (fMRI) to compare patterns of regional brain activation in BPD patients and healthy volunteers as they process positive and negative social emotional stimuli. fMRI images were acquired while 19 BPD patients and 17 healthy controls (HC) viewed emotion-inducing pictures from the International Affective Pictures System set.

Memory activation in healthy nonagenarians.

Little is known about brain function in the oldest old, although this is the fastest growing segment of the population in developed countries and is of paramount importance in public health considerations. In this study, we investigated the cerebral response to a memory task in healthy subjects over age 90 compared with healthy younger elderly. We studied 29 healthy elderly subjects, 12 over age 90 and 17 between age 70 and 80.

Thalamo-striatal diffusion reductions precede disease onset in prion mutation carriers.

Human prion diseases present substantial scientific and public health challenges. They are unique in being sporadic, infectious and inherited, and their pathogen is distinct from all other pathogens in lacking nucleic acids. Despite progress in understanding the molecular structure of prions, their initial cerebral pathophysiology and the loci of cerebral injury are poorly understood.

Hemodynamic etiology of elevated flow velocity and stroke in sickle-cell disease.

Elevation of blood flow velocity in the large cerebral vessels is known to be of substantial pathophysiologic and prognostic significance in sickle-cell disease (SCD). Its precise cause is not established, but the two obvious proximal mechanisms are obstructive vascular stenosis and hemodynamic dilatation. Here we revisit this distinction by analyzing cerebrovascular reserve capacity.

Cross-validation of brain segmentation by SPM5 and SIENAX.

Volumes of cerebral grey (GM) or white matter (WM) are often used as clinical observations or statistical covariates. Several automated segmentation tools can be used for this purpose, but they have not been validated against each other. We used the most common ones, SPM5 and SIENAX 2.

Number of children is associated with neuropathology of Alzheimer's disease in women.

Objective: To examine the association between number of born children and neuropathology of Alzheimer's disease (AD).

Methods: The brains of 86 subjects with data on the number of biological children born, were studied postmortem. Primary analyses included 73 subjects (average age at death=80; 42 women) devoid of cerebrovascular disease associated lesions (i.

Cerebrovascular effects of hemodialysis in chronic kidney disease.

Patients with end-stage renal disease (ESRD) undergoing hemodialysis are known to suffer cognitive deficits and stroke of unknown etiology. It has been suspected that the treatment itself may contribute to the syndrome by unknown mechanisms, which we investigated in this study. End-stage renal disease patients on hemodialysis (n=19) or peritoneal dialysis (PD, n=5) were compared with 14 healthy controls.

The imaging appearance of Creutzfeldt-Jakob disease caused by the E200K mutation.

The E200K mutation on chromosome 20 can cause familial Creutzfeldt-Jakob disease (CJD). Patients with this mutation are clinically similar to those with sporadic CJD, but their imaging features are not well documented. We report here the quantitative and qualitative evaluation of the magnetic resonance (MR) imaging characteristics of this unique group of patients using three-dimensional spoiled gradient recalled (SPGR) echo images, diffusion-weighted imaging (DWI) with apparent diffusion coefficient (ADC) measurements, MR spectroscopy and a fluid-attenuated inversion recovery (FLAIR) sequence.

Functional MRI changes before and after onset of reported emotions.

The social nature of emotion is evident in the importance of facial and vocal displays in emotion-related behavior. This is the first brain-imaging study to use simulated face-to-face social interactions to evoke emotional responses and to compare valence-related activations before and after subjective onset of emotional response. Videotapes were prepared with actresses who described happy or unhappy experiences.

Tolerance of MRI procedures by the oldest old.

Objectives: The study aimed to evaluate the feasibility and discomfort of magnetic resonance imaging (MRI) procedures in the oldest-old subjects (age > 90 years) using a survey design in a university-affiliated neuroimaging research center.

Participants: Forty-one community-dwelling, elderly subjects were considered for participation. Twenty-nine of them underwent voluntary, extensive MRI scanning (up to 1 h) as part of a project on brain function in the oldest old.

Regional cerebral blood flow and cognitive deficits in chronic lyme disease.

This study examined brain functioning in patients with Lyme encephalopathy. Eleven patients underwent neuropsychological tests and Xenon(133)-regional cerebral blood flow (rCBF) studies, using an external detector system. Each rCBF scan was age- and sex-matched to two archival, normal controls.

Sensitivity and specificity of neuroimaging for the diagnosis of Alzheimer's disease.

Alzheimer's disease (AD) is one of the most devastating and cosily disorders affecting the aging population. Structural imaging (computed tomography [CT] and magnetic resonance imaging [MRI]) and functional imaging (single photon emission computed tomography [SPECT] and positron emission tomography [PET]) have been evaluated for their roles in the imaqinq diagnosis of AD. We have reviewed the recent literature to determine the capabilities of these neuroimaging techniques in comparison to current standards of clinical diagnosis.

Increased cerebral blood flow after brain arteriovenous malformation resection is substantially independent of changes in cardiac output.

Brain arteriovenous malformation (BAVM) resection can result in an acute increase in cerebral blood flow (CBF) of unclear etiology. This observational study investigated the relationship between changes in CBF and cardiac output (CO) in patients undergoing microsurgical resection of BAVMs. In 20 patients undergoing a BAVM resection during an isoflurane-based anesthesia, we measured CBF and systemic cardiovascular parameters immediately before and after BAVM resection.

Sickle cell disease: the neurological complications.

The genetic cause of sickle cell disease has been known for decades, yet the reasons for its clinical variability are not fully understood. The neurological complications result from one point mutation that causes vasculopathy of both large and small vessels. Anemia and the resultant cerebral hyperemia produce conditions of hemodynamic insufficiency.