Where SUNCT contacts TN: a case report.

Background: Short-lasting unilateral neuralgiform headache with conjunctival injection and tearing (SUNCT) and trigeminal neuralgia (TN) are unilateral painful conditions that can share the same triggering factors, autonomic features and the main location, as well as the cyclically recurrent crises. Both these syndromes are associated with a high percentage of findings of vascular malformation touching the trigeminal nerve, suggesting a pathophysiological relationship.

Case: In this paper, we report a new case with the main purpose to shine a light on the pathophysiology of these conditions.

Intravenous thrombolysis for acute ischemic stroke associated to extracranial internal carotid artery occlusion: the ICARO-2 study.

Background And Purposes: In a case-control study in patients with acute ischemic stroke and extracranial internal carotid artery (eICA) occlusion, thrombolytic treatment was associated with increased mortality. The aim of this cohort study was to assess the efficacy and safety of thrombolysis in patients with eICA occlusion compared to those without eICA occlusion.

Methods: Consecutive patients treated with intravenous tissue-type plasminogen activator within 4.

Lombardia GENS: a collaborative registry for monogenic diseases associated with stroke.

The Italian region of Lombardy, with its existing stroke centers and high-technology laboratories, provides a favorable context for studying monogenic diseases associated with stroke. The Lombardia GENS project was set up to create a regional network for the diagnosis of six monogenic diseases associated with stroke: CADASIL, Fabry disease, MELAS, familial and sporadic hemiplegic migraine, hereditary cerebral amyloid angiopathy and Marfan syndrome. The network comprises 36 stroke centers and seven high-technology laboratories, performing molecular analysis.

Clinical spectrum and evolution of monoclonal gammopathy-associated neuropathy: an observational study.

Background: Paraproteinemic neuropathy (PPN) is often under-diagnosed because of its clinical and electrophysiological variability. Progression of neuropathy is considered an alarm bell for possible malignant conversion of underlying monoclonal gammopathy (MG).

Objective: To report clinical presentation, course, and evolution in a group of patients with PPN in order to identify findings useful for achieving the diagnosis, suspecting progression, and recognizing the underlying hematological conditions.

A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats.

We assessed the geographical distribution of C9orf72 G(4) C(2) expansions in a pan-European frontotemporal lobar degeneration (FTLD) cohort (n = 1,205), ascertained by the European Early-Onset Dementia (EOD) consortium. Next, we performed a meta-analysis of our data and that of other European studies, together 2,668 patients from 15 Western European countries. The frequency of the C9orf72 expansions in Western Europe was 9.

High doses of cobalt induce optic and auditory neuropathy.

The adverse biological effects of continuous exposure to cobalt and chromium have been well defined. In the past, this toxicity was largely an industrial issue concerning workers exposed in occupational setting. Nevertheless, recent reports have described a specific toxicity mediated by the high levels of cobalt and chromium released by metallic prostheses, particularly in patients who had received hip implants.

Headache due to spontaneous intracranial hypotension and subsequent cerebral vein thrombosis.

Cerebral vein thrombosis (CVT) is a rare complication of spontaneous intracranial hypotension (SIH). When to suspect a thrombotic disorder during the course of intracranial hypotension is not fully elucidated. A 48-year-old woman was admitted because of SIH with no signs of CVT on neuroimaging.

Grange syndrome: an identifiable cause of stroke in young adults.

Grange syndrome is a disorder characterized by arterial occlusive disease, hypertension, congenital cardiac defects, bone fragility, brachysyndactyly, and learning disabilities. It was first described in four members of the same family and in two sporadic cases thereafter, suggesting the possibility of various patterns of inheritance. We report on the case of an 18-year-old female presenting with subarachnoid hemorrhage due to the rupture of a basilar artery aneurysm, and with distinctive systemic features including extensive vasculopathy, facial dysmorphisms and brachysyndactyly, consistent with the diagnosis of Grange syndrome.

Structural brain signature of FTLD driven by Granulin mutation.

Several causative gene mutations have been identified in frontotemporal lobar degeneration (FTLD), including mutations within Granulin (GRN) genes. It was recently shown that FTLD patients carriers of GRN Thr272fs mutation [FTLD-GRN(m+)] exhibit more severe abnormalities, as assessed by magnetic resonance imaging (MRI), than those with sporadic FTLD [FTLD-GRN(m-)]. The aim of this study was to investigate the relationship between grey (GM) and white matter (WM) microstructural damage in FTLD patients, carriers and non-carriers of the mutation.

The impact of cognitive deficit on self-reported car crashes in ultra-octogenarian population: data of an Italian population-based study.

Objective: To examine the usefulness of specific neurocognitive tests for predicting the crash involvement in ultra-octogenarian population.

Methods: A total of 800 subjects (mean age 82.4 + 3.

Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy.

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder caused by mutations in the gene encoding thymidine phosphorylase (TP). Allogeneic hematopoietic stem cell transplantation (HSCT) has been proposed as a treatment for patients with MNGIE and a standardized approach to HSCT in this condition has recently been developed. We report on the transplant course, management and short-term follow-up in two MNGIE patients who underwent HSCT.

TOMM40, APOE, and APOC1 in primary progressive aphasia and frontotemporal dementia.

The aim of this study was to investigate the apolipoprotein E (APOE) chromosomal region in frontotemporal lobar degeneration (FTLD), and in particular in primary progressive aphasia (PPA) and the behavioral variant frontotemporal dementia (bvFTD). To this aim, we selected three single-nucleotide polymorphisms (SNPs) rs2075650 and rs157590 (TOMM40), and rs1064725 (APOC1), representative of the linkage disequilibrium (LD) blocks at the 19q13-q13.2 chromosomal region.

Thromboembolic complications of heparin-induced thrombocytopenia.

Heparin-induced thrombocytopenia (HIT) is an adverse effect of heparin therapy which can be responsible for thrombotic events with embolic consequences. Although ischemic stroke is a well known consequence of HIT, few cases of cerebral ischemia of arterial origin have been reported so far. A 38-year-old man was admitted because of acute multiple ischemic strokes and pulmonary embolism which occurred during treatment with low molecular weight heparin as prophylactic therapy for orthopedic surgery.

The brain-derived neurotrophic factor Val66Met polymorphism is associated with reduced hippocampus perfusion in frontotemporal lobar degeneration.

Brain-derived neurotrophic factor (BDNF) promotes several functions in neurons and modulates neurotransmissions, especially in hippocampal regions. Frontotemporal lobar degeneration (FTLD) has a strong genetic background, but genetic risk factors associated with sporadic disease are unknown. Hippocampal involvement is frequently observed in FTLD.

[11C]-MP4A PET cholinergic measurements in amnestic mild cognitive impairment, probable Alzheimer's disease, and dementia with Lewy bodies: a Bayesian method and voxel-based analysis.

Non-invasive approaches for positron emission tomography (PET) parametric imaging of acetylcholinesterase (AChE) activity have been developed and applied to the investigation of dementia, mainly Alzheimer's disease (AD), but also dementia with Lewy bodies (DLB), not including, however, patients in the early disease stage. The few cholinergic PET studies on mild cognitive impairment (MCI) did not provide clinical follow-up. One limitation of the methods used so far is the relatively low sensitivity in measuring subcortical or deep cortical structures, which might represent specific disease markers.

Reduction in retinal nerve fiber layer thickness in migraine patients.

Migraine is a common disorder and its pathogenesis remains still unclear. Several hypotheses about the mechanisms involved in the pathogenesis of migraine have been proposed, but the issue is still far from being fully clarified. Neurovascular system remains one of the most important mechanisms involved in the pathogenesis of migraine and it could be possible that hypoperfusion might involve other areas besides brain, including the retina.

Knowledge and attitudes about Alzheimer's disease in the lay public: influence of caregiving experience and other socio-demographic factors in an Italian sample.

Background And Aims: Despite increasing attention on the knowledge of dementia among patients and family members, little is known about the general public's level of understanding about dementia. The aim of this study was to assess the influence of the caregiving experience, sex and age on the knowledge of AD.

Methods: Eleven hundred and eleven individuals were enrolled.

Frontotemporal Lobar Degeneration.

Frontotemporal Lobar Degeneration (FTLD) is an heterogeneous neurodegenerative disorder characterized by behaviour and language disturbances, associated with degeneration of the frontal and temporal lobes. Three different clinical presentations have been described, namely behavioural variant Frontotemporal Dementia (bvFTD), Semantic Dementia (SD) and Progressive Non-Fluent Aphasia (PNFA). The associated histopathology includes different neuropathological hallmarks, the most frequent being tau-positive inclusions (FTLD-TAU) or tau-negative and TDP-43 positive inclusions (FTLD-TDP).

Large middle cerebral artery and panhemispheric infarction.

Large middle cerebral artery (MCA) and panhemispheric stroke represent a minority of cerebral ischemic events, yet they are responsible for a disproportionate share of morbidity and mortality. Malignant infarction with formation of cerebral edema is a common cause for secondary neurologic deterioration. Despite intensive medical and surgical care, prognosis is often poor and mortality may be as high as 60-80%.

Is long-term prognosis of frontotemporal lobar degeneration predictable by neuroimaging? Evidence from a single-subject functional brain study.

Prediction of survival in frontotemporal lobar degeneration (FTLD) is guesswork. The aim of the present study was to evaluate whether SPECT scan may be useful to predict prognosis of long term survival in FTLD patients. A cohort of 125 patients with FTLD who underwent brain SPECT scan at the time of enrollment and who were further followed up for at least one year were considered.

Interaction between proatherosclerotic factors and right-to-left shunt on the risk of cryptogenic stroke: the Italian Project on Stroke in Young Adults.

Objective: To explore the interaction effects between cardiac interatrial right-to-left shunt (RLS) and proatherosclerotic factors on the risk of brain ischaemia.

Design: Multicentre Italian case-control study.

Setting: University hospitals.

Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency with unknown genetic defect.

Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare autosomal recessively inherited disorder of fatty acid metabolism due to ETFA, ETFB or ETFDH mutations. Riboflavin treatment ameliorates symptoms and metabolic profile in ETFDH-related MADD patients. We report on a 20-year-old boy with an 8-year history of progressive difficulty in walking, running and climbing stairs.