ABSTRACT
Autoimmune encephalitis refers to a group of pathologies described in the last two decades, characterized by neuropsychiatric symptoms of subacute presentation, mediated by antibodies directed against neuronal membrane proteins. Within this group, encephalitis mediated by antibodies against the NMDA receptor of glutamate is a particular clinical entity, given that its expression is dominated by psychiatric symptoms that usually occur at the onset of the disease. In this paper we describe five cases of NMDA encephalitis in adult patients followed up in the last four years in a public hospital in the City of Buenos Aires, Argentina. We also include a review of the current literature. We emphasize the clinical description of the psychiatric symptoms of presentation, since these lead to the patient's first contact with the health system. Given the difficulty in our environment to implement the determination of autoantibodies, the ability to clinically recognize this pathology becomes paramount to establish an early preliminary diagnosis and not to delay immunosuppressive therapy, thus allowing for a better prognosis.
Subject(s)
Anti-N-Methyl-D-Aspartate Receptor Encephalitis , Adult , Anti-N-Methyl-D-Aspartate Receptor Encephalitis/diagnosis , Argentina , Autoantibodies , Humans , Receptors, N-Methyl-D-AspartateSubject(s)
Mental Disorders , Neuromyelitis Optica/epidemiology , Case-Control Studies , Comorbidity , Humans , Suicide, AttemptedABSTRACT
Systemic autoinflammatory diseases are genetic disorders characterized by seemingly unprovoked inflammation, without major involvement of the adaptive immune system. Among them it is recognized the TNF receptor associated periodic syndrome (TRAPS) caused by mutations in the TNFRSF1A gene and characterized by symptoms such as recurrent high fevers, rash, abdominal pain, arthralgia and myalgia. Recent studies have recognized the potential role of TNFRSF1A mutations in Multiple Sclerosis (MS). Our aim was to investigate the role of TNFRSF1A R92Q gene mutation in a cohort of 90 Argentinean MS patients, where we determined the frequency of the TNFRSF1A R92Q mutation. We also compared autoinflammatory symptoms, MS clinical characteristics and treatment response and tolerability in R92Q carriers and non-carriers. Also, we used a case-control study design to obtain the genotypes of 78 healthy controls and assess the role of this mutation as a risk factor for MS. We found that five patients (5.5%) carried the R92Q mutation, four reported autoinflammatory symptoms previous to MS onset. We found no differences in MS clinical features, treatment response and tolerability between carriers and non-carriers. R92Q mutation was more frequent in MS patients as compared to controls. This increases the risk to develop MS in about 4.5 times. The TNFRSF1A R92Q mutation is a common finding in Argentinean MS patients. This genetic variant might be a risk factor for MS.
Subject(s)
Genetic Predisposition to Disease/genetics , Inflammation/pathology , Multiple Sclerosis/genetics , Multiple Sclerosis/pathology , Mutation, Missense/genetics , Receptors, Tumor Necrosis Factor, Type I/genetics , Argentina , Case-Control Studies , Cohort Studies , Genotype , Humans , Inflammation/genetics , Inheritance Patterns/genetics , Models, Genetic , Risk FactorsABSTRACT
El presente estudio tuvo como objetivo determinar la asociación entre el polimorfismo TNF -376 en el gen que codifica para TNF y un riesgo aumentado de padecer Esclerosis Múltiple en una población de pacientes nativos de argentina, así como también cuantificar el efecto de este polimorfismo sobre la expresión clínica en enfermos de esta patología. Los resultados comunicados en este trabajo no lograron determinar una asociación entre el polimorfismo del promotor del gen de TNF y la susceptibilidad de desarrollar Esclerosis Multiple. Las dos publicaciones comunicadas que demuestran esta asociación, pertenecen a poblaciones de pacientes españoles con EM RR. El mas significativo de estos dos trabajos que corroboro la susceptibilidad a desarrollar EM fue el de Martinez A y colaboradores ( ), quienes constataron en nativos españoles de raza blanca una asociación del alelo buscado con la susceptibilidad a desarrollar EM (p=0.018).
Subject(s)
Argentina , Multiple Sclerosis , Tumor Necrosis Factor-alpha , Polymorphism, Genetic , Fellowships and ScholarshipsABSTRACT
Chronic inflammatory demyelinating polyneuropathy (CIDP) is an acquired immune-mediated neuropathy. It presents with a course of progression which may be slow and steady or step-wise or relapsing. Sensory ataxic polyneuropathy may be the only clinical manifestation of this disease. Treatment with interferon beta1a (INF beta1a) has been tried with different results in patients who were refractory to other, more conventional, immunomodulatory therapies. Here we report on a patient who had a relapsing form of pure sensory ataxic CIDP and who failed to respond to intravenous human immunoglobulin. He was put on INF beta1a for 3 years. During this period he suffered no relapses while his condition stabilized.
Subject(s)
Adjuvants, Immunologic/therapeutic use , Interferon-beta/therapeutic use , Polyradiculoneuropathy, Chronic Inflammatory Demyelinating/drug therapy , Adult , Follow-Up Studies , Humans , Interferon beta-1a , Male , Treatment OutcomeABSTRACT
El presente estudio tuvo como objetivo determinar la asociación entre el polimorfismo TNF -376 en el gen que codifica para TNF y un riesgo aumentado de padecer Esclerosis Múltiple en una población de pacientes nativos de argentina, así como también cuantificar el efecto de este polimorfismo sobre la expresión clínica en enfermos de esta patología. Los resultados comunicados en este trabajo no lograron determinar una asociación entre el polimorfismo del promotor del gen de TNF y la susceptibilidad de desarrollar Esclerosis Multiple. Las dos publicaciones comunicadas que demuestran esta asociación, pertenecen a poblaciones de pacientes españoles con EM RR. El mas significativo de estos dos trabajos que corroboro la susceptibilidad a desarrollar EM fue el de Martinez A y colaboradores ( ), quienes constataron en nativos españoles de raza blanca una asociación del alelo buscado con la susceptibilidad a desarrollar EM (p=0.018).
Subject(s)
Argentina , Multiple Sclerosis , Tumor Necrosis Factor-alpha , Polymorphism, Genetic , Fellowships and ScholarshipsABSTRACT
El presente estudio tuvo como objetivo determinar la asociación entre el polimorfismo TNF -376 en el gen que codifica para TNF y un riesgo aumentado de padecer Esclerosis Múltiple en una población de pacientes nativos de argentina, así como también cuantificar el efecto de este polimorfismo sobre la expresión clínica en enfermos de esta patología. Los resultados comunicados en este trabajo no lograron determinar una asociación entre el polimorfismo del promotor del gen de TNF y la susceptibilidad de desarrollar Esclerosis Multiple. Las dos publicaciones comunicadas que demuestran esta asociación, pertenecen a poblaciones de pacientes españoles con EM RR. El mas significativo de estos dos trabajos que corroboro la susceptibilidad a desarrollar EM fue el de Martinez A y colaboradores ( ), quienes constataron en nativos españoles de raza blanca una asociación del alelo buscado con la susceptibilidad a desarrollar EM (p=0.018).