Dynamic susceptibility MR perfusion imaging of the brain: not a question of contrast agent molarity.

Purpose: Dynamic susceptibility contrast (DSC) perfusion-weighted MR imaging (PWI) is increasingly used in clinical neuroimaging for a range of conditions. More highly concentrated GBCAs (e.g.

MRI-based classification of the anatomical variants of the hippocampal head.

Purpose: The head of the hippocampus (H) is classically described as having two to four digitations both in ex vivo specimens and in vivo MR coronal images. The aim of this study was to develop and evaluate a new MR-based classification of the anatomical variants of the hippocampal head in a large sample population of healthy subjects.

Methods: MR images of the brain of 238 young healthy subjects (138 men and 100 women; age range 18-39) were analyzed.

Effects of miglustat treatment in a patient affected by an atypical form of Tangier disease.

Background: Tangier disease (TD) is a rare autosomal recessive disorder, resulting from mutations in the ATP binding cassette transporter (ABCA1) gene. The deficiency of ABCA1 protein impairs high density lipoprotein (HDL) synthesis and cholesterol esters trafficking.

Case Report: A 58 year-old female, presenting with complex clinical signs (splenomegaly, dysarthria, dysphagia, ataxia, tongue enlargement, prurigo nodularis, legs lymphedema, pancytopenia and bone marrow foam cells), was misdiagnosed as Niemann-Pick C (NPC) and treated with miglustat (300 mg/day), normalizing neurological symptoms and improving skin lesions and legs lymphedema.

Relevance of subcortical visual pathways disruption to visual symptoms in dementia with Lewy bodies.

Visual hallucinations represent a core diagnostic criterion for dementia with Lewy bodies (DLB). We hypothesized that thalamic regions, which are critically involved in the modulation of visual transmission, may be differentially disrupted in DLB as compared to Alzheimer's Disease (AD) and that these deficits could relate to visual dysfunction in DLB patients. Magnetic Resonance and Diffusion Tensor Imaging (DTI) were performed with a 3 T scanner on a sample population of 15 DLB patients, 15 AD patients and 13 healthy volunteers.

Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy.

Facioscapulohumeral muscular dystrophy has been genetically linked to reduced numbers (≤ 8) of D4Z4 repeats at 4q35 combined with 4A(159/161/168) DUX4 polyadenylation signal haplotype. However, we have recently reported that 1.3% of healthy individuals carry this molecular signature and 19% of subjects affected by facioscapulohumeral muscular dystrophy do not carry alleles with eight or fewer D4Z4 repeats.

Electrophysiological comparison between males and females in HNPP.

Some evidences highlighted a higher clinical expression of hereditary neuropathy with liability to pressure palsy (HNPP) in males, and a higher load of traumatic nerve injuries due to different occupational activity has been invoked to explain this observation. It is unknown whether this increased clinical impairment corresponds to a greater electrophysiological involvement. Thus, we compared clinical and electrophysiological features between men and women in a large cohort of HNPP patients.

Default network is not hypoactive in dementia with fluctuating cognition: an Alzheimer disease/dementia with Lewy bodies comparison.

Default mode network resting state activity in posterior cingulate cortex is abnormally reduced in Alzheimer disease (AD) patients. Fluctuating cognition and electroencephalogram abnormalities are established core and supportive elements respectively for the diagnosis of dementia with Lewy bodies (DLB). Our aim was to assess whether patients with DLB with both of these features have different default mode network patterns during resting state functional magnetic resonance imaging compared with AD.

Updates on Somatoform Disorders (SFMD) in Parkinson's Disease and Dementia with Lewy Bodies and discussion of phenomenology.

Somatoform Disorders (SFMD) were recently described in Parkinson Disease (PD) and Dementia with Lewy Bodies (DLB). The present paper updates the observations in our cohort of patients and further details clinical phenomenology. Of 3178 patients consecutively referred to our Institutions from 1999, 1572 subjects had neurodegenerative diseases and 1718 psychiatric disorders.

Autoscopic phenomena: case report and review of literature.

Background: Autoscopic phenomena are psychic illusory visual experiences consisting of the perception of the image of one's own body or face within space, either from an internal point of view, as in a mirror or from an external point of view. Descriptions based on phenomenological criteria distinguish six types of autoscopic experiences: autoscopic hallucination, he-autoscopy or heautoscopic proper, feeling of a presence, out of body experience, negative and inner forms of autoscopy.

Methods And Results: We report a case of a patient with he-autoscopic seizures.