Antonio Giorgio

University of Siena

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Nicola De Stefano

University of Siena

Marco Battaglini

University of Siena

Maria Laura Stromillo

University of Siena

Maria Pia Amato

University of Florence

Emilio Portaccio

University of Florence

Antonio Federico

University of Siena

Massimo Filippi

Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele

Christian Enzinger

Medical University of Graz

Maria Pia Sormani

University of Genoa

Francesca Rossi

Azienda Ospedaliera San Gerardo

Cooperative Institutions

University of Siena

109

University College London

University of Florence

Istituti di Ricovero e Cura a Carattere Scientifico

National Hospital for Neurology and Neurosurgery

Ospedale Santa Maria alle Scotte

Vita-Salute San Raffaele University

University of Bologna

University of Oxford

Azienda Ospedaliera Universitaria Senese

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High frequency of psoriasis in relatives is associated with early onset in an Italian multiple sclerosis cohort

Acta Neurologica Scandinavica (2003)

Pasquale Annunziata P. Morana Antonio Giorgio M. Galeazzi Valeria Campanella

Objectives – An exploratory study has been carried out to assess the association of autoimmune diseases in multiple sclerosis (MS) families with clinical features and disability of MS patients. Material and methods – Age at onset, symptoms and signs at onset, and disability were assessed in 177 patients with definite MS and 178 age- and sex-matched control patients with autoimmune diseases (78 with endocrine and 100 with rheumatological diseases) and correlated with the most frequent autoimmune diseases recorded in the families. Results – Psoriasis was found in 30 relatives of 177 (16.9%) MS patients, thyroid disorders in 17 (9.6%) and allergies in 17 (9.6%). In the control group, psoriasis was found in 22 relatives of 178 (12%) patients, thyroid diseases in 19 (10.7%) and allergies in seven (3.9%). Of the 30 relatives with psoriasis in the MS group, 16 (53.3%) were fathers (P < 0.0001). There was a significant association of high frequency of family psoriasis with early age of MS onset (P = 0.025) but not with onset of symptoms or severe disability. Conclusion – In this Italian MS cohort, a subgroup of patients with a first- or second-degree relative with psoriasis had early onset of MS.

First-degree relatives

10.1034/j.1600-0404.2003.00158.x

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Citations (16)

Developmental changes in white matter microstructure in adolescence

Journal of Neurology Neurosurgery & Psychiatry (2007)

Antonio Giorgio Kate E. Watkins G Douaud Timothy E.J. Behrens Paul M. Matthews

White (mutation)

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Clinical use of brain volumetry

Journal of Magnetic Resonance Imaging (2012)

Antonio Giorgio Nicola De Stefano

Abstract Magnetic resonance imaging (MRI)‐based brain volumetry is increasingly being used in the clinical setting to assess brain volume changes from structural MR images in a range of neurologic conditions. Measures of brain volumes have been shown to be valid biomarkers of the clinical state and progression by offering high reliability and robust inferences on the underlying disease‐related mechanisms. This review critically examines the different scenarios of the application of MRI‐based brain volumetry in neurology: 1) supporting disease diagnosis, 2) understanding mechanisms and tracking clinical progression of disease, and 3) monitoring treatment effect. These aspects will be discussed in a wide range of neurologic conditions, with particular emphasis on Alzheimer's disease and multiple sclerosis. J. Magn. Reson. Imaging 2013;37:1–14. ©2012 Wiley Periodicals, Inc.

Brain disease

10.1002/jmri.23671

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Citations (128)

Changes of Brain Connectivity in Primary Open Angle Glaucoma: High Pressure Glaucoma vs Normal Tension glaucoma

Investigative Ophthalmology & Visual Science (2017)

Paolo Frezzotti Antonio Giorgio Francesco Costantino Nicola De Stefano

Normal tension glaucoma

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Cladribine effect on brain volume loss and its correlation with disability progression in patients with relapsing multiple sclerosis

Multiple Sclerosis Journal (2016)

Nicola De Stefano Antonio Giorgio Marco Battaglini Alessandro De Leucio Gavin Giovannoni

Cladribine

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Reduced brain atrophy rates are associated with lower risk of disability progression in patients with relapsing multiple sclerosis treated with cladribine tablets

Multiple Sclerosis Journal (2017)

Nicola De Stefano Antonio Giorgio Marco Battaglini Alessandro De Leucio Christine Hicking

Background: Neuroimaging studies have used magnetic resonance imaging-derived methods to assess brain volume loss in multiple sclerosis (MS) as a reliable measure of diffuse tissue damage. Methods: In the CLARITY study ( ClinicalTrials.gov NCT00213135), the effect of 2 years’ treatment with cladribine tablets on annualized percentage brain volume change (PBVC/y) was evaluated in patients with relapsing MS (RMS). Results: Compared with placebo (–0.70% ± 0.79), PBVC/y was reduced in patients treated with cladribine tablets 3.5 mg/kg (–0.56% ± 0.68, p = 0.010) and 5.25 mg/kg (–0.57% ± 0.72, p = 0.019). After adjusting for treatment group, PBVC/y showed a significant correlation with the cumulative probability of disability progression (HR = 0.67, 95% CI = 0.571, 0.787; p < 0.001), with patients with lower PBVC/y showing the highest probability of remaining free from disability progression at 2 years and vice versa. Conclusions: Cladribine tablets given annually for 2 years in short-duration courses in patients with RMS in the CLARITY study significantly reduced brain atrophy in comparison with placebo treatment, with residual rates in treated patients being close to the physiological rates.

Cladribine

10.1177/1352458517690269

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Citations (55)

Unusual case of traumatic neuroma of the orbit

Orbit (2016)

S Ulivieri Giovanni Muscas Clelia Miracco Giuseppe Oliveri Paolo Galluzzi

Traumatic or amputation neuromas are neoformations developing after damage to a peripheral nerve. They are not proper tumors but rather a reactive process or a frustrated attempt of nerve regeneration. Traumatic neuromas are potentially found in every sensory peripheral nerve and often at the site of past surgical intervention, including orbital surgery. A 29-year-old Northern African migrant presented progressive exophthalmos and progressive loss of acuity in left eye, which had started about 6 months before after a cranio-facial trauma caused by a violent assault. MRI of the orbits showed a massive intra-orbital, intra-conical lesion, clearly compressing and dislocating the optic nerve and extending posteriorly to the orbital apex. Surgery was performed through lateral approach of Kroenlein and led to complete excision of the lesion. Histology revealed fibrotic, adipose and striated muscle tissues, a disordered, non-neoplastic overgrowth of small and large fascicles of nerves, inflammatory infiltrates, and fibrosis with sparse calcifications were diffusely observed in a background of fat, scar and striated muscle tissued. Patient was discharged on the fifth day in good health condition, without deficit of eye motion but without recovery of visual acuity. In conclusion, this case demonstrates that traumatic neuromas may arise in the orbit in patients with minor direct trauma to nerves and without previous surgical treatment.

Exophthalmos

Orbit (dynamics)

Neuroma

Oculomotor nerve

10.3109/01676830.2015.1099703

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Citations (5)

Longitudinal changes in grey and white matter during adolescence

NeuroImage (2009)

Antonio Giorgio Kate E. Watkins M. Chadwick Susan James Louise Winmill

Arcuate fasciculus

Superior longitudinal fasciculus

Grey matter

Corticospinal tract

Fasciculus

Inferior longitudinal fasciculus

Pyramidal tracts

10.1016/j.neuroimage.2009.08.003

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Citations (387)

MRI in Leber's hereditary optic neuropathy: the relationship to multiple sclerosis

Journal of Neurology Neurosurgery & Psychiatry (2014)

Lucy Matthews Christian Enzinger Franz Fazekas Àlex Rovira Olga Ciccarelli

Background

Leber9s hereditary optic neuropathy (LHON) and a multiple sclerosis (MS)-like illness appear to coexist 50 times more frequently than would be expected by chance. This association of LHON and MS (LMS) raises an important question about whether there could be a common pathophysiological mechanism involving mitochondrial dysfunction.

Objective

The primary aim was to define MRI features of LMS and LHON, and to assess the proportions of individuals displaying features typical of MS. Secondarily, we investigated the effect of gender on the risk of developing white matter lesions in the context of LHON.

Methods

A blinded standardised review of conventional brain MRIs of 30 patients with MS, 31 patients with LHON and 11 patients with LMS was conducted by three independent experts in the field. MS-like MRI features were assessed.

Results

All patients with LMS and 26% of patients with LHON had white matter lesions. Of these, all patients with LMS and 25% with LHON were found to have an MRI appearance typical of MS. Female patients with LHON had a significantly greater risk of having white matter lesions consistent with MS compared with male patients (relative risk 8.3).

Conclusions

A blinded review of conventional brain MRIs shows that patients with LMS have a scan appearance indistinguishable from MS. Mitochondrial dysfunction could be a common pathophysiological pathway in the formation of white matter lesions. There appears to be a strong female influence on the radiological appearance as well as clinical development of MS in patients with LHON.

Pathophysiology

10.1136/jnnp-2014-308186

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Citations (69)

How much do periventricular lesions assist in distinguishing migraine with aura from CIS?

Neurology (2019)

Caterina Lapucci Laura Saitta Giulia Bommarito Maria Pia Sormani Matteo Pardini

To evaluate in clinically isolated syndrome (CIS) and migraine with aura (MA) how the number of periventricular lesions (PVLs) detected at MRI influences diagnostic performance when the Magnetic Resonance Imaging in Multiple Sclerosis (MAGNIMS) or the 2017 revised criteria are applied.In this retrospective study, white matter hyperintensities (WMH) of 84 patients with MA and 79 patients with CIS were assessed using manual segmentation technique. Lesion probability maps (LPMs) and voxel-wise analysis of lesion distribution by diagnosis were obtained. Furthermore, we performed a logistic regression analysis based on lesion locations and volumes.Compared to patients with MA, patients with CIS showed a significant overall higher T2 WMH mean number and volume (17.9 ± 16.9 vs 6.2 ± 11.9 and 3.1 ± 4.2 vs 0.3 ± 0.6 mL; p < 0.0001) and a significantly higher T2 WMH mean number in infratentorial, periventricular, and juxtacortical areas (p < 0.0001). LPMs identified the periventricular regions as the sites with the highest probability of detecting T2 WMH in patients with CIS. Voxel-wise analysis of lesion distribution by diagnosis revealed a statistically significant association exclusively between the diagnosis of CIS and the PVLs. MAGNIMS criteria demonstrated the highest specificity in differentiating patients with CIS from patients with MA (100% vs 87%) against a predictable lower sensitivity (63% vs 72%).PVLs play a key role in the differential diagnosis between MA and CIS, particularly when there are more than 3. Future studies on multiple sclerosis criteria might reconsider the 3 PVLs to minimize the risk of misdiagnosis.This study provides Class IV evidence that the presence at least 3 PVLs increases the specificity in distinguishing MA from CIS.

10.1212/wnl.0000000000007266

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Citations (16)