Perfusion-weighted MRI in cerebral amyloid angiopathy-related transient focal neurological episodes.

INTRODUCTION: Sporadic cerebral amyloid angiopathy (CAA) is a common age-related cerebral small vessel disease characterized by progressive ß-amyloid deposition in the walls of small cortical arteries, arterioles, and capillaries in the cerebral cortex and overlying leptomeninges. CAA-related transient focal neurological episodes (CAA-TFNEs) represent a challenging clinical feature interesting from a pathophysiological point of view. CASE REPORT: Here we present two cases of CAA-TFNEs in which we performed functional imaging with perfusion-weighted imaging MR and brain 18 F-FDG PET. In both cases, we found a topographic relationship between the involved cortical areas and the clinical expression of CAA-TFNEs. Cortical superficial siderosis in the first case and a convexity subarachnoid hemorrhage in the second case were found in the contralateral rolandic area corresponding to the clinical symptoms. The same areas showed a reduction of rCBV and rCBF on perfusion-weighted MR and were also associated in one case with hypometabolism on 18 F-FDG PET. DISCUSSION: These new findings strengthen the hypothesis that CAA involves the superficial leptomeningeal arteries but also the short penetrating arterioles reaching different depths in the cortex generating hypoperfusion and altered vascular reactivity and consequently reduced neuronal activity. CONCLUSION: Understanding CAA-TFNEs is pivotal because they carry a very high risk of subsequent lobar intracerebral hemorrhage but are frequently misdiagnosed as TIAs and treated with antithrombotics enhancing the bleeding risk associated with CAA.

Treating acute ischemic stroke in a patient with multiple sclerosis: A challenging issue.

Multiple sclerosis (MS) is a chronic disease characterized by inflammation, demyelination and neurodegeneration in the central nervous system. Recent studies suggested that patients with MS might have a greater risk of ischaemic stroke (IS). IS treatment with intravenous alteplase (IVA) in MS has rarely been reported. This could be due to the challenging diagnosis between acute IS and MS relapse, considering that clinical and neuroradiological findings might overlap. Here we report a 47-year-old man with a 6-year history of relapsing-remitting MS who presented to the emergency room for acute left limbs weakness and hypoesthesia diagnosed as ischemic stroke after advanced MRI imaging. Patient was treated with IVA and treatment was complicated by a parenchymal hematoma (PH) despite low risks due to young age, low NIHSS score, small ischemic lesion and absence of multiple vascular risk factors. We discuss the possible relationship between MS and IS and the use of IVA in MS patients and finally we consider the possible causes of the PH including the MS disease-modifying therapies.

Stroke in neurological services in Italy.

To assess the stroke workload of Italian neurological services and to correlate it with indicators of each hospital's emergency setting. A semi-structured questionnaire was sent to the 220 neurology units (NU) located in hospitals with an emergency room (ER) (155 responders, 71%). Stroke was the most common discharge diagnosis (29%) (273 patients/year/NU on average) and condition requiring consultation in ER (28%). A stroke unit was available in 28% of NU, bedside monitors in 45%, a 24 hour/day and 7 day/week (24/7) CT scan in 90%, a 24/7-MRI in 32%, a 24/7 on-duty neurologist in 36%. The stroke workload was correlated only with the number of ER consultations per year, and marginally to the presence of stroke units and the number of monitored beds in the univariate, but not in the multivariate analysis. The stroke workload in Italian NU is very high, but is largely unrelated to their structural and functional characteristics, in contrast with the international indications requiring several essential criteria for the best hospital management of all stroke patients.

A novel loss-of-function LGI1 mutation linked to autosomal dominant lateral temporal epilepsy.

BACKGROUND: Mutations responsible for autosomal dominant lateral temporal epilepsy have been found in the leucine-rich, glioma-inactivated 1 (LGI1) gene. OBJECTIVES: To describe the clinical and genetic findings in a family with autosomal dominant lateral temporal epilepsy and to determine the functional effects of a novel LGI1 mutation in culture cells. DESIGN: Clinical, genetic, and functional investigations. SETTING: University hospital and laboratory. PATIENTS: An Italian family with autosomal dominant lateral temporal epilepsy. MAIN OUTCOME MEASURE: Mutation analysis. RESULTS: A novel LGI1 mutation, c.365T>A (Ile122Lys), segregating with the disease was identified. The mutant Lgi1 protein was not secreted by culture cells. CONCLUSION: Our data provide further evidence that mutations in LGI1 hamper secretion of the Lgi1 protein, thereby precluding its normal function.

The neurologist in the emergency department. An Italian nationwide epidemiological survey.

A nationwide survey has been undertaken to evaluate the resources and the activities of Italian hospital neurology units (NU) in the emergency setting. NU are widely disseminated throughout the entire country and 220 (84%) are located in hospitals with an emergency room (ER). Complete data about hospital setting, structural and functional characteristics of each NU and clinical activities were obtained from 159 (72.3%). Each NU has, on average, 25 beds (7% bedside monitoring), 7 neurologists and 17 nurses. A neuroscience department is present in 25% of the hospitals. The ER is the source of 71% of the 148,040 annual admissions and of 57% of the 577,279 annual neurological consultations. Stroke is the most common cause of admission (29%), followed by epilepsy/headache and transient ischaemic attacks. Head trauma prevails in hospitals with no neurosurgical units. Cerebrovascular disorders are the main cause of neurological consultations (28%), followed by headache (22%), dizziness (13%), head trauma (13%), impairment of consciousness (12%) and epilepsy (9%). Only 36% of NU have a 24-h/day, 7 days/week on-duty neurologist and 28% have a stroke unit. The burden of neurological activities is unrelated to the geographical area and hospital's complexity (size, structural and functional context, ER organisation, presence of stroke units, neurosurgery units or 24/7 neurological service).