Central vein sign and trigeminal lesions of multiple sclerosis visualised by 7T MRI.

Background: Although trigeminal nerve involvement is a characteristic of multiple sclerosis (MS), its prevalence across studies varies greatly due to MRI resolution and cohort selection bias. The mechanism behind the site specificity of trigeminal nerve injury is still unclear. We aim to determine the prevalence of trigeminal nerve involvement in patients with MS in a consecutive 7T brain MRI cohort.

Rac1 and Rac3 GTPases differently influence the morphological maturation of dendritic spines in hippocampal neurons.

The Rac1 and Rac3 GTPases are co-expressed in the developing nervous system, where they are involved in different aspects of neuronal development, including the formation of synapses. The deletion of both Rac genes determines a stronger reduction of dendritic spines in vitro compared to the knockout of either gene, indicating that Rac1 and Rac3 play a synergistic role in the formation of these structures. Here, we have addressed the role of each GTPase in the formation of dendritic spines by overexpressing either Rac1 or Rac3 in wildtype neurons, or by re-expressing either GTPase in double knockout hippocampal cultures.

Regenerative Approaches in Huntington's Disease: From Mechanistic Insights to Therapeutic Protocols.

Huntington's Disease (HD) is a neurodegenerative disorder caused by a CAG expansion in the exon-1 of the IT15 gene encoding the protein Huntingtin. Expression of mutated Huntingtin in humans leads to dysfunction and ultimately degeneration of selected neuronal populations of the striatum and cerebral cortex. Current available HD therapy relies on drugs to treat chorea and control psychiatric symptoms, however, no therapy has been proven to slow down disease progression or prevent disease onset.

Transcriptional role of androgen receptor in the expression of long non-coding RNA Sox2OT in neurogenesis.

The complex architecture of adult brain derives from tightly regulated migration and differentiation of precursor cells generated during embryonic neurogenesis. Changes at transcriptional level of genes that regulate migration and differentiation may lead to neurodevelopmental disorders. Androgen receptor (AR) is a transcription factor that is already expressed during early embryonic days.

The mutual control of iron and erythropoiesis.

Background: Iron is essential for hemoglobin synthesis during terminal erythropoiesis. To supply adequate iron the carrier transferrin is required together with transferrin receptor endosomal cycle and normal mitochondrial iron utilization. Iron and iron protein deficiencies result in different types of anemia.

Coronary microvascular dysfunction in chronic inflammatory rheumatoid diseases.

Chronic inflammatory rheumatoid diseases (CIRD) such as rheumatoid arthritis, systemic lupus erythematosus, and systemic sclerosis are an important risk factor for the development of ischaemic heart disease and a source of high cardiovascular morbidity and mortality. In patients affected by CIRD, inflammation can affect coronary microvascular function and contribute to the development of myocardial ischemia and cardiovascular events, even in the absence of obstructive epicardial coronary artery disease. Understanding the molecular aspects that underlie the development of coronary microvascular dysfunction (CMD) in CIRD is of fundamental importance to identify specific therapeutic targets.

Frontotemporal dementia and its subtypes: a genome-wide association study.

Background: Frontotemporal dementia (FTD) is a complex disorder characterised by a broad range of clinical manifestations, differential pathological signatures, and genetic variability. Mutations in three genes-MAPT, GRN, and C9orf72--have been associated with FTD. We sought to identify novel genetic risk loci associated with the disorder.

The erythroid function of transferrin receptor 2 revealed by Tmprss6 inactivation in different models of transferrin receptor 2 knockout mice.

Transferrin receptor 2 (TFR2) is a transmembrane glycoprotein expressed in the liver and in the erythroid compartment, mutated in a form of hereditary hemochromatosis. Hepatic TFR2, together with HFE, activates the transcription of the iron-regulator hepcidin, while erythroid TFR2 is a member of the erythropoietin receptor complex. The TMPRSS6 gene, encoding the liver-expressed serine protease matriptase-2, is the main inhibitor of hepcidin and inactivation of TMPRSS6 leads to iron deficiency with high hepcidin levels.

In vivo signatures of nonfluent/agrammatic primary progressive aphasia caused by FTLD pathology.

Objective: To identify early cognitive and neuroimaging features of sporadic nonfluent/agrammatic variant of primary progressive aphasia (nfvPPA) caused by frontotemporal lobar degeneration (FTLD) subtypes.

Methods: We prospectively collected clinical, neuroimaging, and neuropathologic data in 11 patients with sporadic nfvPPA with FTLD-tau (nfvPPA-tau, n = 9) or FTLD-transactive response DNA binding protein pathology of 43 kD type A (nfvPPA-TDP, n = 2). We analyzed patterns of cognitive and gray matter (GM) and white matter (WM) atrophy at presentation in the whole group and in each pathologic subtype separately.

Imaging neuroinflammation in ischemic stroke and in the atherosclerotic vascular disease.

Neuroinflammation is a complex biological response to any injury occurring to the central nervous system. It is mainly characterized by the recruitment of immune system cells, namely the microglial cells, in the site of injury. Once activated, microglia expresses a cholesterol transporter protein (TSPO), previously also known as peripheral type benzodiazepine receptor.

Prognostic value of N-terminal pro-brain natriuretic Peptide in outpatients with hypertrophic cardiomyopathy.

In hypertrophic cardiomyopathy, the plasma levels of N-terminal pro-brain natriuretic peptide (NT-proBNP) correlate with functional capacity. However, their prognostic relevance remains unresolved. We followed up 183 stable outpatients with hypertrophic cardiomyopathy (age 50 ± 17 years, 64% men) for 3.

The neural representation of abstract words: the role of emotion.

It is generally assumed that abstract concepts are linguistically coded, in line with imaging evidence of greater engagement of the left perisylvian language network for abstract than concrete words (Binder JR, Desai RH, Graves WW, Conant LL. 2009. Where is the semantic system? A critical review and meta-analysis of 120 functional neuroimaging studies.

Functional network connectivity in the behavioral variant of frontotemporal dementia.

Introduction: The aim of this study was to investigate, using resting state (RS) functional magnetic resonance imaging (fMRI), the functional connectivity within and among brain networks in patients with the behavioral variant of frontotemporal dementia (bvFTD), compared with healthy controls and patients with probable Alzheimer's disease (pAD).

Methods: Twelve bvFTD patients were compared with 30 controls and 18 pAD patients. Functional connectivity within the salience, default mode (DMN), executive (EXN), attention/working memory (ATT/WM), and dorsal attentional networks was assessed using independent component analysis.

How I manage patients with atypical microcytic anaemia.

Microcytic hypochromic anaemias are a result of defective iron handling by erythroblasts that decrease the haemoglobin content per red cell. Recent advances in our knowledge of iron metabolism and its homeostasis have led to the discovery of novel inherited anaemias that need to be distinguished from common iron deficiency or other causes of microcytosis. These atypical microcytic anaemias can be classified as: (i) defects of intestinal iron absorption (ii) disorders of the transferrin receptor cycle that impair erythroblast iron uptake (iii) defects of mitochondrial iron utilization for haem or iron sulphur cluster synthesis and (iv) defects of iron recycling.

Imaging semantics and syntax.

This is a highly selective review of functional imaging papers, which have attempted to isolate the neural substrates of semantic and syntactic processing in the human brain. The main emphasis is historical, with a special consideration of the mutual relationship between the traditional, lesion-based approach to the neurology of language and the contributions of the tremendous development of imaging techniques of the last decades.

From genotype to phenotype: two cases of genetic frontotemporal lobar degeneration with premorbid bipolar disorder.

Frontotemporal lobar degeneration (FTLD) is a common early-onset dementia, which shows highly heterogeneous phenotypic presentations. Although an autosomal dominant transmission can be found only in about 10% cases, familial aggregation is frequently observed in FTLD. Recently, the progranulin gene (GRN) was reported to be involved in the disease pathogenesis.

Free and Cued Selective Reminding Test: an Italian normative study.

The presence of episodic memory impairment is required for the diagnosis of Alzheimer's dementia by all current diagnostic criteria. The new research criteria proposed by Dubois et al. (Lancet Neurol 6:734-746, 2007) require that the impairment should not improve significantly with cueing, recognition testing nor after the control of effective encoding.

Rare types of genetic hemochromatosis.

Most types of genetic hemochromatosis are due to mutations in the HFE gene, although similar iron overload and organ damage can also result from mutations in genes other than HFE in rare types of hemochromatosis. Non-HFE hemochromatoses have been divided into two subgroups with distinctive features. The first includes juvenile and TFR2-related hemochromatoses that, similar to HFE hemochromatosis, show recessive inheritance, increased transferrin saturation, iron storage in hepatocytes and responsiveness to phlebotomy.

Hereditary sideroblastic anemias: pathophysiology, diagnosis, and treatment.

Inherited sideroblastic anemia comprises several rare anemias due to heterogeneous genetic lesions, all characterized by the presence of ringed sideroblasts in the bone marrow. This morphological aspect reflects abnormal mitochondrial iron utilization by the erythroid precursors. The most common X-linked sideroblastic anemia (XLSA), due to mutations of the first enzyme of the heme synthetic pathway, delta-aminolevulinic acid synthase 2 (ALAS2), has linked heme deficiency to mitochondrial iron accumulation.

Imaging studies of semantic memory.

Purpose Of Review: The neural basis of semantic memory has not only theoretical interest, but also implications for several neurodegenerative disorders such as Alzheimer's disease and semantic dementia.

Recent Findings: The main focus of functional imaging studies is to disentangle the contribution of several interacting factors to the landscape of cerebral activation observed in normal individuals performing tasks requiring access to semantic knowledge (e.g.

Training-induced brain remapping in chronic aphasia: a pilot study.

Background: The neural correlates of training-induced improvements of cognitive functions after brain damage remain still scarcely understood. In the specific case of aphasia, although several investigations have addressed the issue of the neural substrates of functional recovery, only a few studies have attempted to assess the impact of language training on the damaged brain.

Aims: The main goal of this study was to examine the neurobiological correlates of improved picture-naming performance in 2 aphasic patients who received intensive and specific training for a chronic and severe phonological anomia.

Reversible nonfluent aphasia and left frontal hypoperfusion during topiramate treatment.

We report the case of a patient with complex partial seizures who developed a nonfluent aphasia when topiramate was added to his therapy. This emergent adverse effect appeared to be reversible, as language performance improved after discontinuation of topiramate. Interictal SPECT performed when the patient was aphasic revealed a focal perfusion reduction in the left lateral and mesial frontal cortex, which was no longer evident at a follow-up study after language recovery.