MRI in sarcoglycanopathies: a large international cohort study.

Objectives: To characterise the pattern and spectrum of involvement on muscle MRI in a large cohort of patients with sarcoglycanopathies, which are limb-girdle muscular dystrophies (LGMD2C-2F) caused by mutations in one of the four genes coding for muscle sarcoglycans.

Methods: Lower limb MRI scans of patients with LGMD2C-2F, ranging from severe childhood variants to milder adult-onset forms, were collected in 17 neuromuscular referral centres in Europe and USA. Muscle involvement was evaluated semiquantitatively on T1-weighted images according to a visual score, and the global pattern was assessed as well.

Imaging alterations in skeletal muscle channelopathies: a study in 15 patients.

Skeletal muscle channelopathies (SMC), including non dystrophic myotonias (NDM) and periodic paralyses (PP), are characterized by considerable clinical overlap and clinical features not always allow addressing molecular diagnosis. Muscle imaging has been shown to be useful for differential diagnosis in neuromuscular disorders, however it has been relatively poorly investigated in SMC. We studied 15 patients affected by genetically confirmed SMC (NDM = 9, PP = 6) through muscle MRI or CT of thighs and legs, including 11 patients mutated in SCN4A gene, 2 in CACNA1S and 2 in CLCN1.

SEPN1-related myopathy in three patients: novel mutations and diagnostic clues.

Unlabelled: Mutations in SEPN1 cause selenoprotein N (SEPN)-related myopathy (SEPN-RM) characterized by early-onset axial and neck weakness, spinal rigidity, respiratory failure and histopathological features, ranging from mild dystrophic signs to a congenital myopathy pattern with myofibrillar disorganization. We report on clinical and instrumental features in three patients affected with a congenital myopathy characterized by prevalent neck weakness starting at different ages and mild myopathy, in whom we performed diagnosis of SEPN-RM. The patients presented myopathic signs since their first years of life, but the disease remained unrecognized because of a relatively benign myopathic course.

Primary central nervous system angiosarcoma: a case report and literature review.

Angiosarcoma is a rare vascular malignant neoplasm that mainly occurs in skin and soft tissues. Intracranial localization is very rare and only a few cases have been reported. This report intends to present the clinical, radiological and pathological pictures of a primary central nervous system angiosarcoma along with a review of the literature.

Familial adult-onset Pompe disease associated with unusual clinical and histological features.

The adult-onset form of Pompe disease had a wide clinical spectrum, ranging from asymptomatic patients with increased CK to muscle cramps and pain syndrome or rigid-spine syndrome. In addition clinical severity and disease progression are greatly variable. We report on a family with 3 siblings characterized by an unusual adult-onset Pompe disease including dysphagia and weakness of tongue, axial and limb-girdle muscles, in association with atypical globular inclusions in muscle fibres.

Operability of glioblastomas: "sins of action" versus "sins of non-action".

Despite prognosis of glioblastomas is still poor, mounting evidence suggests that more extensive surgical resections are associated with longer life expectancy. However, the surgical indications, at present, are far from uniform and the concept of operability is extremely surgeon-dependant. The results of glioblastoma resection in 104 patients operated on between March 2005 and April 2011 were reviewed with the aim to shed some light on the limits between 'sins of action' (operating upon complex tumors causing a permanent severe deficit) and 'sins of non-action' (considering inoperable tumors that can be resected with good results).

Diffusion-weighted MRI hyperintensity patterns differentiate CJD from other rapid dementias.

Background: Diffusion-weighted imaging (DWI) and fluid-attenuated inversion recovery (FLAIR) MRI have high sensitivity and specificity for Creutzfeldt-Jakob disease (CJD). No studies, however, have demonstrated how MRI can distinguish CJD from nonprion causes of rapidly progressive dementia (npRPD). We sought to determine the diagnostic accuracy of MRI for CJD compared to a cohort of npRPD subjects.

Interdural haemorrhage of the posterior fossa due to infraclinoidal carotid artery aneurysm rupture.

Several anatomical studies indicate that the intracranial pachimeninges consist of two dural layers joined together, which divide while bordering the venous sinuses, therefore located in an interdural space. We present here an uncommon case of haematoma due to rupture of an infraclinoidal internal carotid artery aneurysm. The dome of the aneurysm leaned against the posterior wall of the cavernous sinus and, following laceration, pierced the inner dural layer and caused its detachment from the periosteal layer, thus determining a truly interdural haematoma which progressively involved the whole posterior fossa.

Engagement of the medial temporal lobe in verbal and nonverbal memory: assessment with functional MR imaging in healthy subjects.

Background And Purpose: The hippocampus and parahippocampal gyrus have a central role in the acquisition of new memories. Although functional MR imaging (fMRI) can provide information on the functional status of these brain regions, it has not reached widespread use in the presurgical assessment of patients undergoing temporal lobectomy. We aimed to evaluate whether simple memory-encoding paradigms could be used to elicit robust activations in the hippocampus and parahippocampal gyrus and to determine the lateralization of verbal and nonverbal memory.

Fatal Aspergillus brain abscess in immunocompetent patient.

Intracranial aspergillosis is a rare pathologic condition, difficult to treat and often fatal which generally affects immunocompromised hosts. High-dose steroid therapy represents a risk factor for opportunistic infections. We report a case of fatal brain abscess in an immunocompetent patient with a previous diagnosis of acute disseminated encephalomyelitis (ADEM) in whom a high-dose steroid course has probably contributed to the development of the fungal infection.

A novel Italian presenilin 2 gene mutation with prevalent behavioral phenotype.

Presenilin mutations are the main cause of familial Alzheimer's disease. So far, more than 160 mutations in the Presenilin 1 gene (PSEN1) and approximately 10 mutations in the homologous Presenilin 2 gene (PSEN2) have been identified. Some PSEN1 mutations are associated with a phenotype fulfilling the clinical criteria of frontotemporal dementia.

Functional MRI in malformations of cortical development: activation of dysplastic tissue and functional reorganization.

Background And Purpose: Functional neuroimaging and electrophysiological studies suggest that dysplastic neural tissue in malformations of cortical development may participate in task performance, and that functional organization can be altered beyond visible lesion boundaries. The aim of this work was to investigate cortical function in a heterogeneous group of patients with malformations of cortical development.

Methods: Twelve patients participated in the study, 2 for each of the following categories: subcortical, periventricular, and band heterotopia, unilateral and bilateral polymicrogyria, and focal cortical dysplasia.

Natural history and management of brainstem gliomas in adults. A retrospective Italian study.

Brainstem gliomas in adults are rare tumors, with heterogeneous clinical course; only a few studies in the MRI era describe the features in consistent groups of patients. In this retrospective study, we report clinical features at onset, imaging characteristics and subsequent course in a group of 34 adult patients with either histologically proven or clinico-radiologically diagnosed brainstem gliomas followed at two centers in Northern Italy. Of the patients 18 were male, 14 female, with a median age of 31.

Biexponential and diffusional kurtosis imaging, and generalised diffusion-tensor imaging (GDTI) with rank-4 tensors: a study in a group of healthy subjects.

Object: Clinical diffusion imaging is based on two assumptions of limited validity: that the radial projections of the diffusion propagator are Gaussian, and that a single directional diffusivity maximum exists in each voxel. The former can be removed using the biexponential and diffusional kurtosis models, the latter using generalised diffusion-tensor imaging. This study provides normative data for these three models.

Deep brain stimulation as a functional scalpel.

Since 1995, at the Istituto Nazionale Neurologico "Carlo Besta" in Milan (INNCB,) 401 deep brain electrodes were implanted to treat several drug-resistant neurological syndromes (Fig. 1). More than 200 patients are still available for follow-up and therapeutical considerations.

A pilot study of the reading processes combining reading-related potentials (RRPs) and fMRI.

Aim of this work is to describe temporally and spatially the activation of the cerebral areas involved in reading processes by combining fMRI and reading-related potentials (RRPs). RRPs and fMR images were recorded in separate studies during a specifically designed experimental procedure. The protocol consisted of three visual tasks of increasing complexity.

Surgifoam and mitoxantrone in the glioblastoma multiforme postresection cavity: the first step of locoregional chemotherapy through an ad hoc-placed catheter: technical note.

Objective: To investigate the safety and feasibility of a novel form of treatment offered by the direct intraoperative application of a Surgifoam-mitoxantrone mix into a glioblastoma multiforme postresection cavity. A technique for the placement of an intracavity catheter connected with a subcutaneous reservoir for further locoregional mitoxantrone administration is also described.

Methods: Between January and December 2004, 22 consecutive recurrent glioblastoma multiforme patients (14 men, 8 women; age, 56-72 yr; average, 64 yr; median, 65 yr) were enrolled in this study.

Craniotomy using image-guided oscillating saw: technical note.

Objective: To describe a new craniotomic technique that eliminates burr holes and minimizes bone loss along the craniotomic line.

Patients And Methods: Fifty burr hole free craniotomies were performed in varied locations using an image-guided micro-oscillating saw. Care was taken to avoid cutting the inner cortical layer.

Stimulation of the globus pallidus internus for childhood-onset dystonia.

We report the results of deep brain stimulation (DBS) of the globus pallidus internus (GPi) in 12 patients with childhood-onset generalized dystonia refractory to medication, including 3 patients with status dystonicus. There were 8 patients who had DYT1-negative primary dystonia, 1 had DYT1-positive dystonia, and 3 had symptomatic dystonia. Stimulation was effective in all but 1 patient.

Phase II trial of cisplatin plus temozolomide, in recurrent and progressive malignant glioma patients.

We report a phase II trial of cisplatinum and temozolomide (TMZ) combination in recurrent malignant glioma patients. The DNA repair protein O(6)-alkylguanine-DNA alkyltransferase (AGAT) is important in glioblastoma resistance to alkylating antitumor agents. In vitro, cisplatin (CDDP) decreases MGMT activity in a time- and dose-dependent manner.