3 results on '"Siracusa, G"'
Search Results
2. APOE-epsilon4 is not associated with cognitive impairment in relapsing-remitting multiple sclerosis.
- Author
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Portaccio E, Goretti B, Zipoli V, Nacmias B, Stromillo ML, Bartolozzi ML, Siracusa G, Guidi L, Federico A, Sorbi S, De Stefano N, and Amato MP
- Subjects
- Adult, Attention, Brain pathology, Cognition Disorders pathology, Disability Evaluation, Female, Genetic Predisposition to Disease, Humans, Italy, Logistic Models, Magnetic Resonance Imaging, Male, Memory, Middle Aged, Multiple Sclerosis, Relapsing-Remitting pathology, Neuropsychological Tests, Phenotype, Risk Assessment, Risk Factors, Severity of Illness Index, Apolipoprotein E4 genetics, Cognition, Cognition Disorders genetics, Cognition Disorders psychology, Multiple Sclerosis, Relapsing-Remitting genetics, Multiple Sclerosis, Relapsing-Remitting psychology
- Abstract
The objective of this article was to assess the association between apolipoprotein E (APOE)-epsilon4 and cognitive impairment (CI) in relapsing-remitting multiple sclerosis (RRMS). The APOE genotype was assessed in 85 RRMS cases (58 females, mean age 43 +/- 8.4 years, mean disease duration 15.8 +/- 9.6 years, mean Expanded Disability Status Scale (EDSS) 1.7 +/- 1.0). Cognitive functioning was evaluated in the whole sample using Rao's Brief Repeatable Battery (BRB). Performance on each test was assessed by applying the normative values for the Italian population. In a subgroup of 50 patients, a brain magnetic resonance (MR) study was performed including measurement of T2 lesion volumes (T2LV), neocortical volume (NCV) and normalized brain volume (NBV). The relationship between APOE genotype, CI and MR variables was assessed through univariate and multivariate logistic regression models. CI, most commonly involving complex attention and verbal memory tasks, was found in 28 cases (33%). We identified a total of 19 epsilon4carriers (22.4%), who did not differ from non-carriers regarding clinical and demographic characteristics. The presence of the epsilon4 genotype was associated with neither CI (p = 0.28) nor impairment on each neuropsychological test (p > 0.32; corrected for age, gender, disease duration, EDSS, depression and fatigue). The APOE genotype and CI were also not related in the subgroup of younger patients (age < 45 years; p > 0.9). Moreover, CI was related to higher T2LV (p = 0.008) and lower NCV (p = 0.006). In conclusion, in our sample CI was associated with higher subcortical damage and cortical atrophy but not with APOE-epsilon4 genotype. The role of APOE-epsilon4 as a possible biomarker in multiple sclerosis is still questionable.
- Published
- 2009
- Full Text
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3. Prevalence of neuromyelitis optica spectrum disorder and phenotype distribution.
- Author
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Bizzoco E, Lolli F, Repice AM, Hakiki B, Falcini M, Barilaro A, Taiuti R, Siracusa G, Amato MP, Biagioli T, Lori S, Moretti M, Vinattieri A, Nencini P, Massacesi L, and Matà S
- Subjects
- Adolescent, Adult, Age of Onset, Aged, Aged, 80 and over, Animals, Child, Child, Preschool, Cross-Sectional Studies, Demyelinating Autoimmune Diseases, CNS epidemiology, Demyelinating Autoimmune Diseases, CNS physiopathology, Female, Humans, Italy epidemiology, Longitudinal Studies, Male, Middle Aged, Oligoclonal Bands blood, Oligoclonal Bands cerebrospinal fluid, Prevalence, Rats, Retrospective Studies, Severity of Illness Index, Statistics, Nonparametric, Young Adult, Neuromyelitis Optica epidemiology, Neuromyelitis Optica physiopathology, Phenotype
- Abstract
Neuromyelitis optica spectrum disorder (NMOsd) is a group of demyelinating disorders recently redefined and associated with NMO-IgG/anti-aquaporin 4 antibodies. Because NMOsd is of unknown prevalence worldwide, we conducted a retrospective, cross-sectional study of 850 patients with demyelinating disorders hospitalized in North East Tuscany from 1998 to 2006 to examine the prevalence of NMO and related disorders among unselected consecutive neurological patients with inflammatory CNS diseases and to evaluate the clinical phenotype spectrum of identified cases. Clinical data were updated after at least 2 years of follow-up. An immunofluorescence technique was used to detect NMO-IgG on rat brain tissue. Sera from other 828 neurological patients, 65 non-neurological patients and 50 healthy donors served as controls. The prevalence of NMOsd was 1.5%, with a MS:NMOsd ratio of 42.7. Among 13 NMOsd patients, 77% had long spinal cord lesions, 38% had severe optic neuritis and 23% had brain or brainstem lesions. Only 56% had clinically definite NMO at follow-up. The final EDSS score ranged from 1 to 10, mainly depending on brainstem involvement occurrence. Our findings confirm a low prevalence of NMO and related disorders among demyelinating inflammatory diseases in a Caucasian population. Moreover, this study demonstrates an unexpectedly high prevalence of limited and atypical variants of this disease, not previously documented.
- Published
- 2009
- Full Text
- View/download PDF
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