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INS;remitting multiple sclerosis association
Abstracts / Journal of the Neurological Sciences 333 (2013) e358–e421
Objective: To assess the relationship between cognition and internal capsule lesion distribution and frequency in patients with relapsingremitting multiple sclerosis (RR MS). Methods: We analyzed 37 patients with definitive diagnosis of RR MS and 37 gender-matched with the same age range control subjects. Conventional MRI and DTI were used to assess the relevance of brain lesion location for cognitive impairment all of the study subjects. The Rao Brief Repeatable Battery was administered to determine the cognitively impaired. Statistical comparison was conducted using repeated measures ANOVA type analysis to detect the relationships between the DTI and Brief Repeatable Battery test. Results: We observed strong positive correlation between cognition and FA and ADC values which is in agreement with the observation of a statistically significant reduction in FA values for RR MS patients compared to the control group (p b .0001). Moreover, there exists a significant inverse relationship between the age FA values (p = .0027). On the other hand, we observed that ADC values are significantly higher for RR MS patients compared to the control group (p b .0001). Low scores of the Symbol Digit Modalities Test correlated with FA and ADC values in these regions. Conclusions: This supports the notion of a functional (multiple) disconnection between gray matter structures, secondary to damage located in WM areas, as one of the most important mechanisms leading to cognitive impairment in MS. doi:10.1016/j.jns.2013.07.1416
Abstract — WCN 2013 No: 1781 Topic: 6 — MS & Demyelinating Diseases Balo's concentric sclerosis: Report of four cases and literature review M. Zouari, A. Bouthouri, E. Farhat, S. Ben Sassi, F. Hentati. Neurology, National Institute Mongi Ben Hamida of Neurology of Tunis, Tunis, Tunisia Background: Balo's concentric sclerosis (BCS) is a rare variant of multiple sclerosis (MS), differing from typical MS in terms of initial presentation, symptom severity and radiological features. Objective: We report four patients with BCS. The diagnostic process and the follow-up are described, with a brief literature review. Material and methods: We studied four patients (three women and a man) affected by BCS. All patients underwent a brain and spine MRI, visual evoked potentials (VEP) and cerebrospinal fluid (CSF) study. Results: The age of onset varied from 17 to 47 years. The symptoms at onset were: acute left-sided weakness and numbness in one patient, diplopia and progressive visual field restriction in two patients, and seizure and dysarthria in the last patient. Three patients had a history of relapsing–remitting symptoms, while one patient had a monophasic course. Expanded disability status scale (EDSS) scores were between zero and one. Brain MRI revealed in all patients, periventricular lesions with onion-like structure in T2 and FLAIR sequences with a diameter exceeding 2 cm. Spine MRI, revealed lesions in only two patients. VEP showed optic neuritis in one patient. The CSF study revealed the presence of IgG oligoclonal bands in one case. The patients improved after intravenous steroids and were diagnosed with MS according to MS criteria 2010. Conclusion: BCS is classically considered as a severe variant of MS with a rapid and malignant course leading to severe irreversible disability or death. However, our patients had a mild to moderate disease course at follow-up. Few studies reported similar findings. doi:10.1016/j.jns.2013.07.1417
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Abstract — WCN 2013 No: 1985 Topic: 6 — MS & Demyelinating Diseases A case of neurofibromatosis type I and relapsing–remitting multiple sclerosis association E. Kammoun, M. Zouari, E. Farhat, F. Hentati. Neurology, National Institute Mongi Ben Hamida of Neurology of Tunis, Tunis, Tunisia Background: Neurofibromatosis type I (NF1) associated with multiple sclerosis (MS) is a rare condition. Only thirteen cases have been described in the literature, especially with the progressive form of MS. Objective: We report the case of a woman with a past history of NF1 who developed relapsing remitting MS. Case report: A 31-year-old woman, diagnosed since childhood with NF1 on the basis of multiple “café au lait” spots and cutaneous neurofibromas, presented gait impairment appearing within 3 months. Neurological examination revealed ataxic gait associated with lower limb's spasticity, hyperreflexia and bilateral Babinski sign. Expanded disability status scale (EDSS) score was 2.5. Brain and spinal cord MRI showed bilateral T2-weighted lesions in the periventricular regions, corpus callosum, cerebellum and brainstem, with gadolinium enhancement. There were no IgG oligoclonal bands on the cerebrospinal fluid (CSF) study. MS was diagnosed referring to the 2010 Mc Donald's Criteria. Discussion: NF1 is an autosomal dominant disorder; the mutated gene is located on chromosome 17q11.2. The gene for oligodendrocyte myelin glycoprotein (OMgp), a membrane glycoprotein which might be one of the target antigens of the autoimmune attack in MS, is embedded within intron 27b of the NF1 gene. Moreover, patients with NF1 with gross deletions may lose at least 11 functional genes, including OMgp. This association has been hypothesized to be related to mutations in the neurofibromin protein or (OMgp) gene. Conclusion: Besides the genetic hypothesis, a casual relationship between MS and NF1 is possible with a higher risk of MS among patients with NF1. doi:10.1016/j.jns.2013.07.1418
Abstract — WCN 2013 No: 1955 Topic: 6 — MS & Demyelinating Diseases Prevalence of autoimmune Thyroiditis in an Italian multiple sclerosis cohort S. Montellaa, G. Oreficea, B. Biondib, I. Cerilloa, N.S. Oreficec, D. Arpaiab, S. Ippolitob, P.B. Carrieria. aNeurosciences, Federico II University, Naples, Italy; bClinical Medicine and Surgery, Federico II University, Naples, Italy; c Neurology IV, Institute of Neurology ‘Carlo Besta’, Milan, Italy Background: Multiple sclerosis (MS) can be co-morbid with other autoimmune disorders, such as autoimmune thyroid diseases. In Western countries, the prevalence of Autoimmune Thyroiditis (AT) is about 5% in the general population (Bagnasco et al., 2006). In MS patients, the prevalence of AT tends to increase: in a Spanish cohort, it reaches about 11.8% (Munteis et al 2007). In Italian MS patients and, in particular, in the Campania region, this data is unknown. Objective: To assess the prevalence of AT in a cohort of MS patients, all belonging to the Campania region; to compare the Expanded Disability Status Scale (EDSS) of patients with or without AT to evaluate the possible effect of thyroid function on the degree of disability. Patients and methods: 82 (35 M, 47 F, mean age 41.6 years) consecutive MS patients who accepted to perform blood sample collection, thyroid echography and endocrinological visit in our centre. One of us assessed the EDSS in all patients.
Objective: To assess the relationship between cognition and internal capsule lesion distribution and frequency in patients with relapsingremitting multiple sclerosis (RR MS). Methods: We analyzed 37 patients with definitive diagnosis of RR MS and 37 gender-matched with the same age range control subjects. Conventional MRI and DTI were used to assess the relevance of brain lesion location for cognitive impairment all of the study subjects. The Rao Brief Repeatable Battery was administered to determine the cognitively impaired. Statistical comparison was conducted using repeated measures ANOVA type analysis to detect the relationships between the DTI and Brief Repeatable Battery test. Results: We observed strong positive correlation between cognition and FA and ADC values which is in agreement with the observation of a statistically significant reduction in FA values for RR MS patients compared to the control group (p b .0001). Moreover, there exists a significant inverse relationship between the age FA values (p = .0027). On the other hand, we observed that ADC values are significantly higher for RR MS patients compared to the control group (p b .0001). Low scores of the Symbol Digit Modalities Test correlated with FA and ADC values in these regions. Conclusions: This supports the notion of a functional (multiple) disconnection between gray matter structures, secondary to damage located in WM areas, as one of the most important mechanisms leading to cognitive impairment in MS. doi:10.1016/j.jns.2013.07.1416
Abstract — WCN 2013 No: 1781 Topic: 6 — MS & Demyelinating Diseases Balo's concentric sclerosis: Report of four cases and literature review M. Zouari, A. Bouthouri, E. Farhat, S. Ben Sassi, F. Hentati. Neurology, National Institute Mongi Ben Hamida of Neurology of Tunis, Tunis, Tunisia Background: Balo's concentric sclerosis (BCS) is a rare variant of multiple sclerosis (MS), differing from typical MS in terms of initial presentation, symptom severity and radiological features. Objective: We report four patients with BCS. The diagnostic process and the follow-up are described, with a brief literature review. Material and methods: We studied four patients (three women and a man) affected by BCS. All patients underwent a brain and spine MRI, visual evoked potentials (VEP) and cerebrospinal fluid (CSF) study. Results: The age of onset varied from 17 to 47 years. The symptoms at onset were: acute left-sided weakness and numbness in one patient, diplopia and progressive visual field restriction in two patients, and seizure and dysarthria in the last patient. Three patients had a history of relapsing–remitting symptoms, while one patient had a monophasic course. Expanded disability status scale (EDSS) scores were between zero and one. Brain MRI revealed in all patients, periventricular lesions with onion-like structure in T2 and FLAIR sequences with a diameter exceeding 2 cm. Spine MRI, revealed lesions in only two patients. VEP showed optic neuritis in one patient. The CSF study revealed the presence of IgG oligoclonal bands in one case. The patients improved after intravenous steroids and were diagnosed with MS according to MS criteria 2010. Conclusion: BCS is classically considered as a severe variant of MS with a rapid and malignant course leading to severe irreversible disability or death. However, our patients had a mild to moderate disease course at follow-up. Few studies reported similar findings. doi:10.1016/j.jns.2013.07.1417
e391
Abstract — WCN 2013 No: 1985 Topic: 6 — MS & Demyelinating Diseases A case of neurofibromatosis type I and relapsing–remitting multiple sclerosis association E. Kammoun, M. Zouari, E. Farhat, F. Hentati. Neurology, National Institute Mongi Ben Hamida of Neurology of Tunis, Tunis, Tunisia Background: Neurofibromatosis type I (NF1) associated with multiple sclerosis (MS) is a rare condition. Only thirteen cases have been described in the literature, especially with the progressive form of MS. Objective: We report the case of a woman with a past history of NF1 who developed relapsing remitting MS. Case report: A 31-year-old woman, diagnosed since childhood with NF1 on the basis of multiple “café au lait” spots and cutaneous neurofibromas, presented gait impairment appearing within 3 months. Neurological examination revealed ataxic gait associated with lower limb's spasticity, hyperreflexia and bilateral Babinski sign. Expanded disability status scale (EDSS) score was 2.5. Brain and spinal cord MRI showed bilateral T2-weighted lesions in the periventricular regions, corpus callosum, cerebellum and brainstem, with gadolinium enhancement. There were no IgG oligoclonal bands on the cerebrospinal fluid (CSF) study. MS was diagnosed referring to the 2010 Mc Donald's Criteria. Discussion: NF1 is an autosomal dominant disorder; the mutated gene is located on chromosome 17q11.2. The gene for oligodendrocyte myelin glycoprotein (OMgp), a membrane glycoprotein which might be one of the target antigens of the autoimmune attack in MS, is embedded within intron 27b of the NF1 gene. Moreover, patients with NF1 with gross deletions may lose at least 11 functional genes, including OMgp. This association has been hypothesized to be related to mutations in the neurofibromin protein or (OMgp) gene. Conclusion: Besides the genetic hypothesis, a casual relationship between MS and NF1 is possible with a higher risk of MS among patients with NF1. doi:10.1016/j.jns.2013.07.1418
Abstract — WCN 2013 No: 1955 Topic: 6 — MS & Demyelinating Diseases Prevalence of autoimmune Thyroiditis in an Italian multiple sclerosis cohort S. Montellaa, G. Oreficea, B. Biondib, I. Cerilloa, N.S. Oreficec, D. Arpaiab, S. Ippolitob, P.B. Carrieria. aNeurosciences, Federico II University, Naples, Italy; bClinical Medicine and Surgery, Federico II University, Naples, Italy; c Neurology IV, Institute of Neurology ‘Carlo Besta’, Milan, Italy Background: Multiple sclerosis (MS) can be co-morbid with other autoimmune disorders, such as autoimmune thyroid diseases. In Western countries, the prevalence of Autoimmune Thyroiditis (AT) is about 5% in the general population (Bagnasco et al., 2006). In MS patients, the prevalence of AT tends to increase: in a Spanish cohort, it reaches about 11.8% (Munteis et al 2007). In Italian MS patients and, in particular, in the Campania region, this data is unknown. Objective: To assess the prevalence of AT in a cohort of MS patients, all belonging to the Campania region; to compare the Expanded Disability Status Scale (EDSS) of patients with or without AT to evaluate the possible effect of thyroid function on the degree of disability. Patients and methods: 82 (35 M, 47 F, mean age 41.6 years) consecutive MS patients who accepted to perform blood sample collection, thyroid echography and endocrinological visit in our centre. One of us assessed the EDSS in all patients.