Double Trouble: Association of Malignant Melanoma with Sporadic and Genetic Forms of Parkinson's Disease and Asymptomatic Carriers of Related Genes: A Brief Report.

Introduction: Previous epidemiological evidence has established the co-occurrence of malignant melanoma (MM) and Parkinson's disease (PD). Shared molecular mechanisms have been proposed to be implicated in this relationship. The aim of the present study was to assess the prevalence of MM in patients with sporadic and genetic types of PD, as well as in asymptomatic carriers of PD-related genes. Methods: Data regarding past medical history and concomitant disease of 1416 patients with PD (including 20 participants with prodromal disease who phenoconverted to PD), 275 healthy controls (HCs) and 670 asymptomatic carriers of PD-related genes were obtained from the database of the Parkinson's Progression Markers Initiative (PPMI). Focus was placed on information about a medical record of MM. We also retrieved data regarding the genetic status of selected PPMI participants with a positive MM history. Results: In total, 46 patients with PD reported a positive MM history. Concerning the genetic forms of PD, nine of these PD patients (2.47%) carried a Leucine Rich Repeat Kinase 2 (LRRK2) gene mutation (mainly the G2019S), while eight (4.49%) harbored a Glucocerebrosidase (GBA) gene mutation (mainly the N370S). No alpha-synuclein (SNCA) gene mutation was identified in patients with an MM history. The remaining 29 PD patients (3.5%) were genetically undetermined. In total, 18 asymptomatic carriers of PD-related genes had a positive medical history for MM: among them, 10 carried an LRRK2 gene mutation (2.69%) and 10 a GBA gene mutation (3.51%) (2 were dual carriers). MM history was identified for seven HCs (2.5%). Conclusions: We replicated the previously reported association between genetically undetermined PD (GU-PD) and MM. A correlation of LRRK2 mutations with the development of MM could not be verified in either symptomatic PD patients or asymptomatic carriers, implicating distinct pathogenetic mechanisms as compared to GU-PD. Importantly, despite the limited literature evidence on Gaucher disease, this study highlights for the first time the relatively high prevalence of MM among asymptomatic and symptomatic PD GBA mutation carriers, with potential clinical implications.

Dietary and Nutrient Patterns and Brain MRI Biomarkers in Dementia-Free Adults.

Cognitive impairment is a rapidly growing public health problem. As there is no curative treatment for dementia, the proactive management of modifiable risk factors and the identification of early biomarkers indicative of the cognitive decline are of great importance. Although nutrition is one of the most extensively studied lifestyle factor in relation to cognitive health, its association with brain magnetic resonance imaging (MRI) biomarkers is not well established. In the present work, we review available studies relating dietary or nutrient patterns with brain MRI biomarkers in dementia-free adults. Greater adherence to the Mediterranean diet has been associated with the preservation of structural connectivity and less brain atrophy in adults without dementia. In addition, specific nutrient patterns, characterized by a high intake of antioxidant vitamins, polyphenols and unsaturated fatty acids, have been related to larger brain volume. Although the results are encouraging regarding the role of dietary and nutrient patterns on imaging biomarkers, more well-designed observational longitudinal studies and clinical trials are needed in order to confirm potentially causal relationships and better understand underlying mechanisms.

The utility of splenic imaging parameters in cardiac magnetic resonance for the diagnosis of immunoglobulin light-chain amyloidosis.

OBJECTIVES: Cardiac magnetic resonance (CMR) imaging is a key test in the diagnosis of cardiac amyloidosis (CA). Extracardiac involvement is common in light chain (AL) amyloidosis and MRI findings may assist in its diagnosis. We sought to investigate the utility of splenic CMR parameters for the diagnosis of CA. METHODS: Thirty-four patients with AL amyloidosis and 32 patients with severe left ventricular hypertrophy in the setting of aortic stenosis (LVH-AS) who completed 3T cardiac MRI at the time of their diagnosis of AL or LVH-AS were assessed with T1, T2 (modified Look-Locker inversion recovery), extracellular volume (ECV) mapping, and late gadolinium enhancement (LGE) imaging of the heart and spleen. RESULTS: Age, left ventricular mass index, wall thickness, ejection fraction, and splenic dimensions did not differ significantly between groups. All AL patients had cardiac involvement. T1 and T2 spleen mapping did not differ significantly between groups but AL patients had higher median ECV in the spleen than in LVH-AS (AL 46.9%, LVH-AS: 31%, p < 0.001), and significantly lower short tau inversion recovery ratio (AL: 1.7, LVH-AS: 2.7, p < 0.001) both with very good diagnostic performance to diagnose AL. We identified 16 AL patients with spleen involvement and 16 without. Spleen ECV and "normalized" spleen ratio, defined as the ratio of spleen LGE to muscle values exhibited strong correlation and had excellent diagnostic performance to discriminate those with spleen involvement. CONCLUSION: Our findings show that spleen CMR parameters can identify spleen involvement in AL patients and differentiate them from those without AL amyloidosis.

MRI evidence of extraocular muscle atrophy and fatty replacement in myasthenia gravis.

PURPOSE: The aim of the study was to evaluate extraocular muscle (EOM) atrophy and fatty replacement in ocular myasthenia gravis (OMG) and generalized myasthenia gravis (GMG) patients with chronic and untreated ocular symptoms or with inadequate response to immunotherapy and unprovoked ocular exacerbations despite chronic immunotherapy. METHODS: Nineteen patients with either OMG or GMG and 19 healthy age-matched controls underwent an orbital MRI. Visually obvious muscle atrophy and muscle fatty replacement were evaluated by two raters independently. Maximum thickness of EOM was measured. Measurements of the muscles of each participant were added up, in order to calculate the total thickness. RESULTS: Eleven patients suffered from AChR-positive GMG, and 8 patients from OMG. All patients had chronic ocular symptoms or inadequate response to corticosteroids and unprovoked ocular exacerbations in spite of immunotherapy. Fatty replacement was reported in 6/19 (31.6%) patients and 0/19 (0%) controls (p = 0.02). Obvious atrophy in at least one muscle was reported in 8/19 (42.1%) patients and 1/19 (5.3%) controls (p = 0.019). Statistically significant differences between the two groups were also found in the mean total thickness, as well as in the thickness of superior recti, levator palpebrae, inferior recti, and superior oblique muscles. CONCLUSION: EOM atrophy and fatty replacement were seen frequently in our series of MG patients with treatment difficulties and frequent relapses of ocular involvement.

Chemotherapy-Induced Brain Effects in Small-Cell Lung Cancer Patients: A Multimodal MRI Study.

The golden standard of treating Small Cell Lung Cancer (SCLC) entails application of platinum-based chemotherapy, is often accompanied by Prophylactic Cranial Irradiation (PCI), which have been linked to neurotoxic side-effects in cognitive functions. The related existing neuroimaging research mainly focuses on the effect of PCI treatment in life quality and expectancy, while little is known regarding the distinct adverse effects of chemotherapy. In this context, a multimodal MRI analysis based on structural and functional brain data is proposed in order to evaluate chemotherapy-specific effects on SCLC patients. Data from 20 patients (after chemotherapy and before PCI) and 14 healthy controls who underwent structural MRI, DTI and resting state fMRI were selected in this study. From a structural aspect, the proposed analysis included volumetry and thickness measurements on structural MRI data for assessing gray matter dissimilarities, as well as deterministic tractography and Tract-Based Spatial Statistics (TBSS) on DTI data, aiming to investigate potential white matter abnormalities. Functional data were also processed on the basis of connectivity analysis, evaluating brain network parameters to identify potential manifestation of functional inconsistencies. By comparing patients to healthy controls, the obtained results revealed statistically significant differences, with the patients' brains presenting reduced volumetry/thickness and fractional anisotropy values, accompanied by prominent differences in functional connectivity measurements. All above mentioned findings were observed in patients that underwent chemotherapy.

The Superior Frontal Transsulcal Approach to the Anterior Ventricular System: Exploring the Sulcal and Subcortical Anatomy Using Anatomic Dissections and Diffusion Tensor Imaging Tractography.

OBJECTIVE: To explore the superior frontal sulcus (SFS) morphology, trajectory of the applied surgical corridor, and white matter bundles that are traversed during the superior frontal transsulcal transventricular approach. METHODS: Twenty normal, adult, formalin-fixed cerebral hemispheres and 2 cadaveric heads were included in the study. The topography, morphology, and dimensions of the SFS were recorded in all specimens. Fourteen hemispheres were investigated through the fiber dissection technique whereas the remaining 6 were explored using coronal cuts. The cadaveric heads were used to perform the superior frontal transsulcal transventricular approach. In addition, 2 healthy volunteers underwent diffusion tensor imaging and tractography reconstruction studies. RESULTS: The SFS was interrupted in 40% of the specimens studied and was always parallel to the interhemispheric fissure. The proximal 5 cm of the SFS (starting from the SFS precentral sulcus meeting point) were found to overlie the anterior ventricular system in all hemispheres. Five discrete white matter layers were identified en route to the anterior ventricular system (i.e., the arcuate fibers, the frontal aslant tract, the external capsule, internal capsule, and the callosal radiations). Diffusion tensor imaging studies confirmed the fiber tract architecture. CONCLUSIONS: When feasible, the superior frontal transsulcal transventricular approach offers a safe and effective corridor to the anterior part of the lateral ventricle because it minimizes brain retraction and transgression and offers a wide and straightforward working corridor. Meticulous preoperative planning coupled with a sound microneurosurgical technique are prerequisites to perform the approach successfully.