[Dystonia: their epidemiology, aetiology, diagnosis and treatment]. / Distonías: epidemiologia, etiología, diagnóstico y tratamiento.

INTRODUCTION: Dystonia is the second most common movement disorder after Parkinsonism. No exact figures are available on the incidence/prevalence of the different forms of dystonia, because the data vary considerably depending on the source, method and ethnic origin of the population under study. AIMS: To describe and summarise our current knowledge of the epidemiology, causation, diagnosis and treatment of dystonias. DEVELOPMENT: Dystonia is a movement disorder characterised by sustained muscular contractions that cause repeated twisting movements and abnormal postures. Dystonias can be classified according to their distribution, aetiology, clinical course and age at onset. A correct classification is very useful for evaluating the complementary tests that are needed, as well as the prognosis and treatment of the process. The diagnosis of dystonia is essentially clinical and is confirmed with electromyography. Both the different laboratory and neuroimaging studies are fundamentally used to help in the aetiological classification and to rule out secondary causes of dystonia. Among the different treatments that exist today (intrathecal, infiltrative, surgical, systemic pharmacotherapy), special attention should be given to the role of botulinum toxin as the preferred treatment in most cases of focal dystonias. CONCLUSIONS: Exhaustive epidemiological studies are needed to be able to get a more precise picture of the epidemiology of dystonias. Despite the great amount of progress made in recent years as far as genetics and neuroimaging are concerned, the diagnosis of dystonia remains essentially clinical. Botulinum toxin is the preferred treatment in most cases of focal dystonias.

Distonías: epidemiología, etiología, diagnóstico y tratamiento / Destonia: Thir epidemiology, aetiology, diagnosis and treatment

Resumen. Introducción. La distonía es el segundo trastorno del movimiento más frecuente después de los parkinsonismos. No se conocen con exactitud las cifras de incidencia/prevalencia de las distintas formas de distonía, ya que las cifras varían considerablemente en función de la fuente, método de estudio y origen étnico de la población estudiada. Objetivo. Describir y resumir los conocimientos actuales sobre la epidemiología, etiología, diagnóstico y tratamiento de las distonías. Desarrollo. La distonía es un trastorno del movimiento caracterizado por contracciones musculares sostenidas que causan movimientos de torsión repetidos y posturas anómalas. Las distonías pueden clasificarse según su distribución, etiología, curso clínico y edad de inicio. Una correcta clasificación resulta muy útil de cara a evaluar las pruebas complementarías necesarias, el pronóstico y el tratamiento del proceso. El diagnóstico de distonía es fundamentalmente clínico y se confirma con electromiografía. Tanto los diversos estudios de laboratorio como de neuroimagen sirven fundamentalmente para ayudar en la clasificación etiológica y para descartar causas secundarias de distonía. Dentro de los diversos tratamientos existentes hoy en día (farmacoterapia sistémica, intratecal, infiltrativa, quirúrgica), cabe destacar el papel de la toxina botulínica como tratamiento de elección en la mayor parte de las distonías focales. Conclusiones. Es necesaria la realización de estudios epidemiológicos exhaustivos que permitan conocer con mayor exactitud la epidemiología de las distonías. A pesar del gran avance en los últimos años en cuanto a genética y neuroimagen, el diagnóstico de la distonía sigue siendo fundamentalmente clínico. La toxina botulínica es el tratamiento de elección en la mayor parte de las distonías focales (AU)

Summary. Introduction. Dystonia is the second most common movement disorder after Parkinsonism. No exact figures are available on the incidence/prevalence of the different forms of dystonia, because the data vary considerably depending on the source, method and ethnic origin of the population under study. Aims. To describe and summarise our current knowledge of the epidemiology, causation, diagnosis and treatment of dystonias. Development. Dystonia is a movement disorder characterised by sustained muscular contractions that cause repeated twisting movements and abnormal postures. Dystonias can beclassified according to their distribution, aetiology, clinical course and age at onset. A correct classification is very useful for evaluating the complementary tests that are needed, as well as the prognosis and treatment of the process. The diagnosis of dystonia is essentially clinical and is confirmed with electromyography. Both the different laboratory and neuroimaging studies are fundamentally used to help in the aetiological classification and to rule out secondary causes of dystonia. Among he different treatments that exist today (intrathecal, infiltrative, surgical, systemic pharmacotherapy), special attention should be given to the role of botulinum toxin as the preferred treatment in most cases of focal dystonias. Conclusions. Exhaustive epidemiological studies are needed to be able to get a more precise picture of the epidemiology of dystonias. Despite the great amount of progress made in recent years as far as genetics and neuroimaging are concerned, the diagnosis of dystonia remains essentially clinical. Botulinum toxin is the preferred treatment in most cases of focal dystonias (AU)

[Time evolution of TNF-alpha, VCAM-1, IL-4, IL-10, neopterin and CD-30 in patients treated with interferon]. / Evolución temporal de TNF-a, VCAM-1, IL-4, IL-10, neopterina y CD-30 en pacientes tratados con interferón.

INTRODUCTION: Interferon (IFN) diminishes the outbreaks of multiple sclerosis (MS) and slows down its progression. Follow-up of patients is performed using clinical and resonance imaging parameters, and no biological markers are available that allow us to determine its efficiency. AIMS: 1. To discover the effects of IFN on the serum levels of TNF-alpha, IL-4, IL-10, VCAM-1, neopterin and CD-30 in patients with MS; 2. To determine how these modifications evolve over time; 3. To find out the clinical value of its determination in isolation. PATIENTS AND METHODS: We studied 19 patients with MS who were clinically stable and undergoing IFN therapy. Samples were obtained every 3 months over a 2.5 year period and always immediately before injecting the drug. The ELISA method was used to determine interleukins. RESULTS: Serum levels of neopterin, CD-30 and VCAM-1 were not modified, TNF-alpha levels oscillated regardless of the clinical status of the patient and IL-4 and IL-10 had a significant serum peak at 9-12 months after beginning treatment. CONCLUSIONS: The existence of a significant IL-4 and IL-10 peak between 6 and 12 months of therapy indicates that IFN reaches its possible immunomodulatory effect after several months and, therefore, a poor initial clinical response must not be a reason for discontinuing medication. The specific determination of the serum levels of IL is not useful in following up patients treated with IFN.

[Superficial siderosis of the central nervous system: report of two new cases]. / Siderosis superficial del sistema nervioso central: descripción de dos nuevos casos.

INTRODUCTION: Superficial siderosis of the central nervous system (CNS) is a rare disease characterized by deafness, ataxia and pyramidal dysfunction. It is due to hemosiderin deposition in the subpial membranes of the brain, spinal cord and cranial nerves. Most cases are secondary to chronic or recurrent bleeding into the subarachnoid space. Diagnosis is permitted by magnetic resonance imaging (MRI). CASE REPORTS: We report two patients with a chronic, slowly progressive cerebellar ataxia and hearing loss. MRI showed T2 hypointense signals in the brain, cerebellum and spinal cord diagnostic of superficial siderosis of the CNS. Xanthochromia was present in one patient. Evoked potentials showed retrochoclear hearing loss. Extensive vascular studies were negative for bleeding sources. One patient, treated with oral anticoagulants, benefited from reduction of the International Normalized Ratio. CONCLUSION: Due to its rarity, clinical suspicion is essential for diagnosis of superficial siderosis of the CNS.

Siderosis superficial del sistema nervioso central: descripción de dos nuevos casos / Superficial siderosis of the central nervous system: report of two new cases

Introducción. La siderosis superficial del sistema nervioso central (SNC) es una enfermedad rara, caracterizada por sordera, ataxia y disfunción piramidal. Se debe al depósito de hemosiderina en las membranas subpiales del cerebro, la médula espinal y los nervios craneales. La mayoría de los casos son secundarios a un sangrado crónico o recurrente en el espacio subaracnoideo. Se requiere la realización de una resonancia magnética (RM) para alcanzar el diagnóstico. Casos clínicos. Presentamos dos pacientes con un cuadro crónico de ataxia cerebelosa y pérdida auditiva progresivas. En ambos casos, la RM mostraba señales hipointensas en T2 en el cerebro, el cerebelo y la médula espinal, diagnósticas de siderosis superficial del SNC. En uno de los pacientes se demostró xantocromía en el análisis del líquido cefalorraquídeo. Los potenciales evocados auditivos revelaron, en ambos casos, una pérdida auditiva retrococlear. Se realizaron estudios vasculares exhaustivos sin que se pudiera demostrar la presencia de fuentes de sangrado. Uno de los pacientes, que recibía tratamiento con anticoagulantes orales, se benefició de la reducción del INR. Conclusión. Debido a su rareza, la sospecha clínica es esencial para el diagnóstico de esta enfermedad (AU)

Introduction. Superficial siderosis of the central nervous system (CNS) is a rare disease characterized by deafness, ataxia and pyramidal dysfunction. It is due to hemosiderin deposition in the subpial membranes of the brain, spinal cord and cranial nerves. Most cases are secondary to chronic or recurrent bleeding into the subarachnoid space. Diagnosis is permitted by magnetic resonance imaging (MRI). Case reports. We report two patients with a chronic, slowly progressive cerebellar ataxia and hearing loss. MRI showed T2 hypointense signals in the brain, cerebellum and spinal cord diagnostic of superficial siderosis of the CNS. Xanthochromia was present in one patient. Evoked potentials showed retrochoclear hearing loss. Extensive vascular studies were negative for bleeding sources. One patient, treated with oral anticoagulants, benefited from reduction of the International Normalized Ratio. Conclusion. Due to its rarity, clinical suspicion is essential for diagnosis of superficial siderosis of the CNS (AU)

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