Visual stimulation and frequency of focal neurological symptoms engage distinctive neurocognitive resources in migraine with aura patients: a study of resting-state functional networks.

INTRODUCTION: Several functional neuroimaging studies on healthy controls and patients with migraine with aura have shown that the activation of functional networks during visual stimulation is not restricted to the striate system, but also includes several extrastriate networks. METHODS: Before and after 4 min of visual stimulation with a checkerboard pattern, we collected functional MRI in 21 migraine with aura (MwA) patients and 18 healthy subjects (HS). For each recording session, we identified independent resting-state networks in each group and correlated network connection strength changes with clinical disease features. RESULTS: Before visual stimulation, we found reduced connectivity between the default mode network and the left dorsal attention system (DAS) in MwA patients compared to HS. In HS, visual stimulation increases functional connectivity between the independent components of the bilateral DAS and the executive control network (ECN). In MwA, visual stimulation significantly improved functional connectivity between the independent component pairs salience network and DAS, and between DAS and ECN. The ECN Z-scores after visual stimulation were negatively related to the monthly frequency of aura. CONCLUSIONS: In individuals with MwA, 4 min of visual stimulation had stronger cognitive impact than in healthy people. A higher frequency of aura may lead to a diminished ability to obtain cognitive resources to cope with transitory but important events like aura-related focal neurological symptoms.

Changes of olfactory tract in Parkinson's disease: a DTI tractography study.

PURPOSE: Impaired olfactory function is one of the main features of Parkinson's disease. However, how peripheral olfactory structures are involved remains unclear. Using diffusion tensor imaging fiber tracking, we investigated for MRI microstructural changes in the parkinsonian peripheral olfactory system and particularly the olfactory tract, in order to seek a better understanding of the structural alternations underlying hyposmia in Parkinson's disease. METHODS: All patients were assessed utilizing by the Italian Olfactory Identification Test for olfactory function and the Unified Parkinson's Disease Rating Scale-III part as well as Hoehn and Yahr rating scale for motor disability. Imaging was performed on a 3 T Clinical MR scanner. MRI data pre-processing was carried out by DTIPrep, diffusion tensor imaging reconstruction, and fiber tracking using Diffusion Toolkit and tractography analysis by TrackVis. The following parameters were used for groupwise comparison: fractional anisotropy, mean diffusivity, radial diffusivity, axial diffusivity, and tract volume. RESULTS: Overall 23 patients with Parkinson's disease (mean age 63.6 ± 9.3 years, UPDRS-III 24.5 ± 12.3, H&Y 1.9 ± 0.5) and 18 controls (mean age 56.3 ± 13.7 years) were recruited. All patients had been diagnosed hyposmic. Diffusion tensor imaging analysis of the olfactory tract showed significant fractional anisotropy, and tract volume decreases for the Parkinson's disease group compared with controls (P < 0.05). Fractional anisotropy and age, in the control group, were significant for multiple correlations (r = - 0.36, P < 0.05, Spearman's rank correlation). CONCLUSIONS: Fiber tracking diffusion tensor imaging analysis of olfactory tract was feasible, and it could be helpful for characterizing hyposmia in Parkinson's disease.

Juvenile Moyamoya and Craniosynostosis in a Child with Deletion 1p32p31: Expanding the Clinical Spectrum of 1p32p31 Deletion Syndrome and a Review of the Literature.

Moyamoya angiopathy (MA) is a rare cerebrovascular disorder characterised by the progressive occlusion of the internal carotid artery. Its aetiology is uncertain, but a genetic background seems likely, given the high MA familial rate. To investigate the aetiology of craniosynostosis and juvenile moyamoya in a 14-year-old male patient, we performed an array-comparative genomic hybridisation revealing a de novo interstitial deletion of 8.5 Mb in chromosome region 1p32p31. The deletion involved 34 protein coding genes, including NF1A, whose haploinsufficiency is indicated as being mainly responsible for the 1p32-p31 chromosome deletion syndrome phenotype (OMIM 613735). Our patient also has a deleted FOXD3 of the FOX gene family of transcription factors, which plays an important role in neural crest cell growth and differentiation. As the murine FOXD3-/- model shows craniofacial anomalies and abnormal common carotid artery morphology, it can be hypothesised that FOXD3 is involved in the pathogenesis of the craniofacial and vascular defects observed in our patient. In support of our assumption, we found in the literature another patient with a syndromic form of MA who had a deletion involving another FOX gene (FOXC1). In addition to describing the clinical history of our patient, we have reviewed all of the available literature concerning other patients with a 1p32p31 deletion, including cases from the Decipher database, and we have also reviewed the genetic disorders associated with MA, which is a useful guide for the diagnosis of syndromic form of MA.

The no evidence of disease activity (NEDA) concept in MS: impact of spinal cord MRI.

BACKGROUND: Measures to define treatment response, such as no evidence of disease activity (NEDA), are routinely used in multiple sclerosis (MS) clinical practice. Although spinal cord involvement is a frequent feature of MS, its magnetic resonance imaging (MRI) monitoring is not routinely performed. OBJECTIVE: To assess the impact of spinal cord MRI in the definition of NEDA in a cohort of people with MS (pwMS) with available spinal cord imaging performed as for routine monitoring. METHODS: We included 115 pwMS undergoing treatment with first-line disease-modifying therapies (DMTs) and retrospectively analyzed the presence of NEDA in the whole cohort, either considering or not spinal cord imaging. RESULTS: When considering only clinical and brain MRI measures, 97 out of 115 pwMS (84.3%) satisfied the criteria for NEDA. In the same cohort, the number of pwMS with NEDA significantly decreased to 88 (76.5%) (p < 0.01) when considering also spinal cord imaging. CONCLUSION: These findings suggest that, in routine clinical practice, spinal cord MRI monitoring in pwMS under first-line DMTs leads to a slight but significant change in the proportion of subjects classified as clinically and radiologically stable according to the NEDA definition.

Impact of post-contrast MRI in the definition of active multiple sclerosis.

BACKGROUND: For multiple sclerosis (MS) phenotypes classification, the presence of "disease activity" can be defined by clinical relapses and/or by magnetic resonance imaging (MRI) through gadolinium-enhancing (Gd+) lesions or new/enlarged T2 lesions. Recent MRI and pathology findings have demonstrated Gd deposition in the brain, suggesting to avoid Gd administration when dispensable. In this scenario, we aimed to evaluate the contribution of post-contrast MRIs to the definition of "active" MS phenotype. METHODS: We retrospectively selected 84 "active" relapsing-remitting MS (RRMS) patients according to Lublin 2013, calculating both the number of Gd+ lesions not detectable as new/unequivocally enlarged on T2 images and the proportion of patients who would be still correctly classified as "active" without Gd administration. RESULTS: 13 out of 164 (7.9%) Gd+ lesions did not correspond to a new/enlarged T2 lesion. Gd administration did not modify the classification of MS as "active" in 83 out of 84 subjects (98.8%). CONCLUSION: The contribution of Gd+ lesions to the correct classification of RRMS patients as "active" is marginal, thus limiting the need of routine Gd administration for this scope. Further studies are warranted to support these conclusions.

Hyperdense middle cerebral and/or internal carotid arteries in acute ischemic stroke: rate, predictive factors and influence on clinical outcome.

BACKGROUND: In patients with acute stroke, the hyperdense middle cerebral artery (MCA) and internal carotid artery (ICA) signs on CT scans are markers of early ischemia, but their prognostic implications remain unclear.The aims of this prospective study were to assess: (1) the occurrence rate of hyperdense MCA and/or ICA in patients admitted for acute ischemic stroke; (2) the risk factors for hyperdense MCA and/or ICA; (3) the correlation between hyperdense MCA and/or ICA and functional outcome at 3 months. METHODS: Consecutive patients admitted with ischemic stroke between 1 January 2006 and 30 June 2010 were included in this prospective single-centre cohort study. RESULTS: 1,010 patients (mean age 71.9 years; 56.7% males) were included in the study. Among these patients, 148 (14.7%; mean age 71.2 years; 52% males) had hyperdense MCA and/or ICA. Overall, 163 patients (16.1%) had a final infarct covering more than one third of the MCA territory. Seventy-eight of 148 patients (52.7%) with hyperdense MCA and/or ICA had an infarct involving more than one third of the MCA territory compared to 85 of the 862 patients without artery hyperdensity (9.9%). At 3 months, 18 patients were lost to follow-up, 325 patients (32.8%) were disabled and 165 died (16.5%). Age (OR 1.06 for 1 added year; 95% CI 1.04-1.08), National Institute of Health Stroke Scale score for 1 added point on admission (OR 1.2; 95% CI 1.2-1.3), stroke due to atherosclerosis (OR 2.3; 95% CI 1.0-5.4), hemorrhagic transformation of the ischemic lesion (OR 2.2; 95% CI 1.0-4.9), and hyperdense MCA and/or ICA (OR 2.0; 95% CI 1.0-4.0) were associated with adverse outcome. CONCLUSIONS: In this prospective cohort of patients with acute ischemic stroke, we observed an incidence of hyperdense MCA and/or ICA arteries of about 15%; hyperdense MCA and/or ICA were associated with a final infarct involving more than one third of the MCA territory and poor functional outcome at 3 months.