- Email: [email protected]
Democratic Republic of Congo
Abstracts / Journal of the Neurological Sciences 405S (2019) 116542
327
accumulation of lewy bodies. Improper folding of proteins is one of the reasons for PD incidence that increases the burden on cellular physiology. Dopamine is required for the proper movement and its scarcity leads to the PD. Rotenone is a well-known pesticide that mimics PD like symptoms in rats both by behaviourally and pathologically. Thus we have used rotenone in the present study to find out how oxidative stress generated in the system leads to the ER stress and ultimately causes Parkinsonism in rats. Current researches are concerned about the understanding the underlying mechanism of neuroprotection provided by the antioxidants. Till date it is not clear through which mechanism quercetin provides protection against rotenone induced ER stress, oxidative stress and neurotoxicity. In the present study we found that quercetin significantly lowered the level of oxidative stress and ER stress in rotenone treated rats. Thus the study could offer a novel utility of quercetin as a promising therapeutic agent against PD after further examinations.
3. At least one ICD-RB was present in 31(38.74%) patients Table 1. 4. ‘ICD not classified elsewhere’ as trichotillomania was present in 3(3.75%) patients. 5. Significant risk factors for ICD-RB are younger age, longer disease, more years of treatment and higher dose of dopamine. 6. QOL was much worse in those with any ICD-RB than those without any ICD-RB(Table 2).
doi:10.1016/j.jns.2019.10.1441
Poster Session 3
doi:10.1016/j.jns.2019.10.1442
WCN19-2109 Journal of the Neurological Sciences 405S (2019) 105104
Clinical and biological characterization of konzo forms in children in Kahemba/Democratic Republic of Congo
WCN19-2102 Journal of the Neurological Sciences 405S (2019) 105103 Poster Session 3 Gender association of impulse control disorders (ICD-RBS) in patients with Parkinson's disease and its impact on quality of life B. Paula, G. Paulb, G. Singhc a MBBS MD DM Neurology, Neurology, Ludhiana, India b DMC and Hospital, Critical Care, Ludhiana, India c DMC and Hospital, Neurology, Ludhiana, India ICD-RBs are under-recognized in clinical practice as patients do not spontaneously offer information, either because of shame or they do not understand its correlation to PD and its treatment. Certain ICD relevant in the Indian scenario apart from the criteria set in QUIP-RS have not been studied yet were explored. Aim To study the gender difference and risk factors in the prevalence of ICD-RBs in Indian PD patients and its impact on Quality of life (QOL). Methods Hospital based observational cross-sectional study of PD patients on treatment with dopamine replacement therapy for more than six months visiting movement disorder clinic. After informed consent, patients or informant completed the QUIP-RS questionnaire, in the language of choice (English/Punjabi/ Hindi) based on behavior that occurred anytime during PD and lasted N4 consecutive weeks. In addition other ICDs relevant in the Indian population as body-focused repetitive behaviors were also explored as a new part of the QUIP-RS questionnaire. The frequency and impact of ICD on QOL was studied using validated PDQ-39 Questionnaire. Results 1. Total 80 patients (46 men,34 women) were included in 6 months period. 2. Trends show ICD-RBs are more frequent in women (41.8%) compared to men(32%) with punding being the most frequent (Fig. 1).
J. Mbusa Kombia, D.L. Mukeba Kahembaa, J.P. Banea Mayambub, M. Boivinc, J. Muyembe Tamfumd, D. Mumba Ngoyd, D. Tshala Katumbaye, D. Okitundu Luwa E. -Andjafonoa a Université de Kinshasa, Neurologie, Kinshasa, Democratic Republic of the Congo b Institut Supérieur des Techniques Médicales, Programme National de Nutrition, Kinshasa, Democratic Republic of the Congo c Michigan State University, Psychiatry- Neurology and Ophtalmology, Lansing, USA d Université de Kinshasa & Institut National de Recherche Biomédicale RDC, Département de Médecine Tropicale, Kinshasa, Democratic Republic of the Congo e Université de Kinshasa- République Démocratique du CongoRDC et Oregon Health & Science University, Département de Neurologie et Department of Neurology and Center for Research on Occupational and Environmental Toxicology, Portland, OR, USA Background Clinical and biological characteristics of three forms of konzo severity are still poorly documented. Objective Identify clinical as well biological and evolutive characteristics of three clinical patterns of konzo and associated disorders of other organs. Methods A literature review was undertaken in PubMed, Global Science. Org and Google scholar. In addition, data from 213 children including 124 cases and 89 controls from the NIH-DRC konzo project were used in the retrospective study. Sociodemographic factors, somatic, neurological and neuropsychological assessment data as well as biomarkers of malnutrition and cyanide intoxication were the variables of interest. Results The age of the children was higher in the severe form and lower in the mild form. Konzo disease severity was related to socioeconomic distress, malnutrition and micronutrient deficiency (selenium, zinc and copper). Patellar and ankle exaggerated reflexes were more common in mild form thus ankle clonus, speech articulation disorders and Lhermitte sign were more frequent in moderate form. Socio-emotional, visual disorders and ankylosis had high frequency in severe form. Moderate form had shorter enzymatic detoxification rate thus higher urinary thiocyanate levels as well as some neurocognitive performances. Heart rate increased significantly with
328
Abstracts / Journal of the Neurological Sciences 405S (2019) 116542
Konzo severity regardless of age. Frequently, severe form evolved towards mild form and vice versa. Conclusion Characteristics of three konzo clinical patterns within children suggest different models of adaptation to cyanide intoxication that require in-depth studies. Keywords: Socioeconomic distress, heart rate, cyanide intoxication, malnutrition, reflex abnormalities
Patients with baseline EDSS≤3.0 that had ≥1 EDSS≥6.0 were 0.8% vs 4.3% (CT3.5 versus placebo; OR 0.18 [95%CI: 0.04, 0.81]; p b .0262). Those with baseline EDSS≥3.5 and ≥ 1 EDSS≥6.0 were 16.2% versus 29.9% (CT3.5 versus placebo; OR 0.45 [95%CI: 0.26, 0.79]; p = .0051). Conclusions The risk of progressing to proxy SPMS within 2 years of treatment or experiencing EDSS≥6.0 were significantly reduced with CT3.5 versus placebo, regardless of baseline EDSS. Clarity NCT00213135
doi:10.1016/j.jns.2019.10.1443
doi:10.1016/j.jns.2019.10.1444
WCN19-2113
WCN19-2118
Journal of the Neurological Sciences 405S (2019) 105105
Journal of the Neurological Sciences 405S (2019) 105106
Poster Session 3
Poster Session 3
Reduction of risk of secondary progressive multiple sclerosis within two years of treatment with cladribine tablets: An analysis of the clarity study
Novel limb-girdle muscular dystrophy with rhabdomyolysis and persistently elevated creatine kinase level
a
b
c
P. Vermersch , G. Giovannoni , P. Soelberg-Sorensen , K. Rammohand, S. Cooke, B. Kellerf, S. Royg a Univ. Lille, INSERM U995- CHU Lille- FHU Imminent, Lille, France b Queen Mary University of London, Blizard Institute- Barts and The London School of Medicine and Dentistry, London, United Kingdom c University of Copenhagen- Rigshospitalet, Danish MS Center- Department of Neurology, Copenhagen, Denmark d University of Miami School of Medicine, MS Research Center, Miami, USA e Rutgers- The State University of New Jersey, New Jersey Medical School, Newark, USA f Merck Healthcare KGaA, n/a, Darmstadt, Germany g Merck, a division of Merck Healthcare KGaA- Darmstadt- Germany, Aubonne, Switzerland Introduction Cladribine tablets 10 mg, cumulative dose 3.5 mg/kg (CT3.5) over 2 years, showed efficacy versus placebo in patients with relapsing multiple sclerosis (MS) (CLARITY). This post hoc analysis explored the relationship between baseline expanded disability status scale (EDSS) and risk of progression to secondary progressive MS (SPMS) or to EDSS≥6.0 in CLARITY. Methods A proxy composite definition of SPMS was developed for this analysis. Patients progressing to EDSS≥6.0 were defined as ≥1 postbaseline EDSS≥6.0 with 3- or 6-month confirmed disability progression (CDP). Results Proxy SPMS progression was seen in 6.7% versus 13.5% (CT3.5 versus placebo: OR 0.46 [95%CI: 0.28, 0.76]; p = .0024). In the baseline EDSS≤3.0 subgroup proxy SPMS progression was 3.5% versus 7.7% (CT3.5 versus placebo: OR 0.44 [95%CI: 0.19, 0.99]; p = .0471). For baseline EDSS≥3.5, proxy SPMS progression was 12.2% versus 22.4% (CT3.5 versus placebo; OR 0.48 [95%CI: 0.26, 0.9]; p = .0212). Proportions of patients with 3-month CDP with EDSS≥6.0 were 3.5% vs 8.0% (CT3.5 versus placebo; OR 0.42 [95%CI: 0.22, 0.82]; p = .0114). Patients with 6-month CDP with EDSS≥6.0, were 2.8% versus 5.8% (CT3.5 versus placebo; OR 0.48 [95%CI: 0.22, 1.02]; p = .0566).
S.S. Ezadiniaa, K. Kokab Irfanb, K. Aujala Irfanb a Emergency department, Ras al kaimah, United Arab Emirates b Internal medicine, Ras al khaimah, United Arab Emirates Introduction Rhabdomyolysis is a serious clinical emergency in which skeletal muscle breaks down rapidly. Underlying disorders e.g. LGMD(Limbgirdle muscular dystrophy) can cause rhabdomyolysis but are often difficult to diagnose due to their marked diversity and rarity. We report a case of a novel LGMD with rhabdomyolysis as this is the first of its kind to be found in UAE. Case report 13-year-old Emirati male from a consanguineous family (1st cousins), presented with sudden onset of generalized muscle cramping, especially in the abdomen, which led to difficulty breathing. He was found to have cola-colored urine which improved over few days and high serum CK level (spiked at around 200,000 Units/l) which plateaued after 2 weeks he had previous similar episodes. Discussion His LGMD panel showed a variant which is unlikely to be pathogenic and was paternally inherited on further testing with trio exome. The exome did reveal a homozygous, predicted to be truncating, variant in the MLIP gene, which encodes for the muscular LMNA interacting protein (MLIP), highly expressed in skeletal and smooth muscles and may contribute to the mesenchymal phenotypes of laminopathies. This might explain the rhabdomyolysis seen in our patient. Conclusion We would like to report this case due to the rarity of this combination and its exceptional nature as LGMD in this patient is caused by a homozygous MLIP gene variant. This gene is related to the lamin complex but, has only recently been linked to dilated cardiomyopathy in humans thus far, while animal studies have shown a link to cardiac dysfunction. doi:10.1016/j.jns.2019.10.1445
327
accumulation of lewy bodies. Improper folding of proteins is one of the reasons for PD incidence that increases the burden on cellular physiology. Dopamine is required for the proper movement and its scarcity leads to the PD. Rotenone is a well-known pesticide that mimics PD like symptoms in rats both by behaviourally and pathologically. Thus we have used rotenone in the present study to find out how oxidative stress generated in the system leads to the ER stress and ultimately causes Parkinsonism in rats. Current researches are concerned about the understanding the underlying mechanism of neuroprotection provided by the antioxidants. Till date it is not clear through which mechanism quercetin provides protection against rotenone induced ER stress, oxidative stress and neurotoxicity. In the present study we found that quercetin significantly lowered the level of oxidative stress and ER stress in rotenone treated rats. Thus the study could offer a novel utility of quercetin as a promising therapeutic agent against PD after further examinations.
3. At least one ICD-RB was present in 31(38.74%) patients Table 1. 4. ‘ICD not classified elsewhere’ as trichotillomania was present in 3(3.75%) patients. 5. Significant risk factors for ICD-RB are younger age, longer disease, more years of treatment and higher dose of dopamine. 6. QOL was much worse in those with any ICD-RB than those without any ICD-RB(Table 2).
doi:10.1016/j.jns.2019.10.1441
Poster Session 3
doi:10.1016/j.jns.2019.10.1442
WCN19-2109 Journal of the Neurological Sciences 405S (2019) 105104
Clinical and biological characterization of konzo forms in children in Kahemba/Democratic Republic of Congo
WCN19-2102 Journal of the Neurological Sciences 405S (2019) 105103 Poster Session 3 Gender association of impulse control disorders (ICD-RBS) in patients with Parkinson's disease and its impact on quality of life B. Paula, G. Paulb, G. Singhc a MBBS MD DM Neurology, Neurology, Ludhiana, India b DMC and Hospital, Critical Care, Ludhiana, India c DMC and Hospital, Neurology, Ludhiana, India ICD-RBs are under-recognized in clinical practice as patients do not spontaneously offer information, either because of shame or they do not understand its correlation to PD and its treatment. Certain ICD relevant in the Indian scenario apart from the criteria set in QUIP-RS have not been studied yet were explored. Aim To study the gender difference and risk factors in the prevalence of ICD-RBs in Indian PD patients and its impact on Quality of life (QOL). Methods Hospital based observational cross-sectional study of PD patients on treatment with dopamine replacement therapy for more than six months visiting movement disorder clinic. After informed consent, patients or informant completed the QUIP-RS questionnaire, in the language of choice (English/Punjabi/ Hindi) based on behavior that occurred anytime during PD and lasted N4 consecutive weeks. In addition other ICDs relevant in the Indian population as body-focused repetitive behaviors were also explored as a new part of the QUIP-RS questionnaire. The frequency and impact of ICD on QOL was studied using validated PDQ-39 Questionnaire. Results 1. Total 80 patients (46 men,34 women) were included in 6 months period. 2. Trends show ICD-RBs are more frequent in women (41.8%) compared to men(32%) with punding being the most frequent (Fig. 1).
J. Mbusa Kombia, D.L. Mukeba Kahembaa, J.P. Banea Mayambub, M. Boivinc, J. Muyembe Tamfumd, D. Mumba Ngoyd, D. Tshala Katumbaye, D. Okitundu Luwa E. -Andjafonoa a Université de Kinshasa, Neurologie, Kinshasa, Democratic Republic of the Congo b Institut Supérieur des Techniques Médicales, Programme National de Nutrition, Kinshasa, Democratic Republic of the Congo c Michigan State University, Psychiatry- Neurology and Ophtalmology, Lansing, USA d Université de Kinshasa & Institut National de Recherche Biomédicale RDC, Département de Médecine Tropicale, Kinshasa, Democratic Republic of the Congo e Université de Kinshasa- République Démocratique du CongoRDC et Oregon Health & Science University, Département de Neurologie et Department of Neurology and Center for Research on Occupational and Environmental Toxicology, Portland, OR, USA Background Clinical and biological characteristics of three forms of konzo severity are still poorly documented. Objective Identify clinical as well biological and evolutive characteristics of three clinical patterns of konzo and associated disorders of other organs. Methods A literature review was undertaken in PubMed, Global Science. Org and Google scholar. In addition, data from 213 children including 124 cases and 89 controls from the NIH-DRC konzo project were used in the retrospective study. Sociodemographic factors, somatic, neurological and neuropsychological assessment data as well as biomarkers of malnutrition and cyanide intoxication were the variables of interest. Results The age of the children was higher in the severe form and lower in the mild form. Konzo disease severity was related to socioeconomic distress, malnutrition and micronutrient deficiency (selenium, zinc and copper). Patellar and ankle exaggerated reflexes were more common in mild form thus ankle clonus, speech articulation disorders and Lhermitte sign were more frequent in moderate form. Socio-emotional, visual disorders and ankylosis had high frequency in severe form. Moderate form had shorter enzymatic detoxification rate thus higher urinary thiocyanate levels as well as some neurocognitive performances. Heart rate increased significantly with
328
Abstracts / Journal of the Neurological Sciences 405S (2019) 116542
Konzo severity regardless of age. Frequently, severe form evolved towards mild form and vice versa. Conclusion Characteristics of three konzo clinical patterns within children suggest different models of adaptation to cyanide intoxication that require in-depth studies. Keywords: Socioeconomic distress, heart rate, cyanide intoxication, malnutrition, reflex abnormalities
Patients with baseline EDSS≤3.0 that had ≥1 EDSS≥6.0 were 0.8% vs 4.3% (CT3.5 versus placebo; OR 0.18 [95%CI: 0.04, 0.81]; p b .0262). Those with baseline EDSS≥3.5 and ≥ 1 EDSS≥6.0 were 16.2% versus 29.9% (CT3.5 versus placebo; OR 0.45 [95%CI: 0.26, 0.79]; p = .0051). Conclusions The risk of progressing to proxy SPMS within 2 years of treatment or experiencing EDSS≥6.0 were significantly reduced with CT3.5 versus placebo, regardless of baseline EDSS. Clarity NCT00213135
doi:10.1016/j.jns.2019.10.1443
doi:10.1016/j.jns.2019.10.1444
WCN19-2113
WCN19-2118
Journal of the Neurological Sciences 405S (2019) 105105
Journal of the Neurological Sciences 405S (2019) 105106
Poster Session 3
Poster Session 3
Reduction of risk of secondary progressive multiple sclerosis within two years of treatment with cladribine tablets: An analysis of the clarity study
Novel limb-girdle muscular dystrophy with rhabdomyolysis and persistently elevated creatine kinase level
a
b
c
P. Vermersch , G. Giovannoni , P. Soelberg-Sorensen , K. Rammohand, S. Cooke, B. Kellerf, S. Royg a Univ. Lille, INSERM U995- CHU Lille- FHU Imminent, Lille, France b Queen Mary University of London, Blizard Institute- Barts and The London School of Medicine and Dentistry, London, United Kingdom c University of Copenhagen- Rigshospitalet, Danish MS Center- Department of Neurology, Copenhagen, Denmark d University of Miami School of Medicine, MS Research Center, Miami, USA e Rutgers- The State University of New Jersey, New Jersey Medical School, Newark, USA f Merck Healthcare KGaA, n/a, Darmstadt, Germany g Merck, a division of Merck Healthcare KGaA- Darmstadt- Germany, Aubonne, Switzerland Introduction Cladribine tablets 10 mg, cumulative dose 3.5 mg/kg (CT3.5) over 2 years, showed efficacy versus placebo in patients with relapsing multiple sclerosis (MS) (CLARITY). This post hoc analysis explored the relationship between baseline expanded disability status scale (EDSS) and risk of progression to secondary progressive MS (SPMS) or to EDSS≥6.0 in CLARITY. Methods A proxy composite definition of SPMS was developed for this analysis. Patients progressing to EDSS≥6.0 were defined as ≥1 postbaseline EDSS≥6.0 with 3- or 6-month confirmed disability progression (CDP). Results Proxy SPMS progression was seen in 6.7% versus 13.5% (CT3.5 versus placebo: OR 0.46 [95%CI: 0.28, 0.76]; p = .0024). In the baseline EDSS≤3.0 subgroup proxy SPMS progression was 3.5% versus 7.7% (CT3.5 versus placebo: OR 0.44 [95%CI: 0.19, 0.99]; p = .0471). For baseline EDSS≥3.5, proxy SPMS progression was 12.2% versus 22.4% (CT3.5 versus placebo; OR 0.48 [95%CI: 0.26, 0.9]; p = .0212). Proportions of patients with 3-month CDP with EDSS≥6.0 were 3.5% vs 8.0% (CT3.5 versus placebo; OR 0.42 [95%CI: 0.22, 0.82]; p = .0114). Patients with 6-month CDP with EDSS≥6.0, were 2.8% versus 5.8% (CT3.5 versus placebo; OR 0.48 [95%CI: 0.22, 1.02]; p = .0566).
S.S. Ezadiniaa, K. Kokab Irfanb, K. Aujala Irfanb a Emergency department, Ras al kaimah, United Arab Emirates b Internal medicine, Ras al khaimah, United Arab Emirates Introduction Rhabdomyolysis is a serious clinical emergency in which skeletal muscle breaks down rapidly. Underlying disorders e.g. LGMD(Limbgirdle muscular dystrophy) can cause rhabdomyolysis but are often difficult to diagnose due to their marked diversity and rarity. We report a case of a novel LGMD with rhabdomyolysis as this is the first of its kind to be found in UAE. Case report 13-year-old Emirati male from a consanguineous family (1st cousins), presented with sudden onset of generalized muscle cramping, especially in the abdomen, which led to difficulty breathing. He was found to have cola-colored urine which improved over few days and high serum CK level (spiked at around 200,000 Units/l) which plateaued after 2 weeks he had previous similar episodes. Discussion His LGMD panel showed a variant which is unlikely to be pathogenic and was paternally inherited on further testing with trio exome. The exome did reveal a homozygous, predicted to be truncating, variant in the MLIP gene, which encodes for the muscular LMNA interacting protein (MLIP), highly expressed in skeletal and smooth muscles and may contribute to the mesenchymal phenotypes of laminopathies. This might explain the rhabdomyolysis seen in our patient. Conclusion We would like to report this case due to the rarity of this combination and its exceptional nature as LGMD in this patient is caused by a homozygous MLIP gene variant. This gene is related to the lamin complex but, has only recently been linked to dilated cardiomyopathy in humans thus far, while animal studies have shown a link to cardiac dysfunction. doi:10.1016/j.jns.2019.10.1445