Distonía focal del pie de inicio en el adulto / Adult-onset primary focal foot dystonia

Introducción. La distonía focal idiopática del pie de inicioen el adulto es una entidad rara de la que hasta la fechasólo se han encontrado siete casos publicados en la literatura.Dado que las formas idiopáticas en el adulto son excepcionales,su presentación obliga siempre a descartar formassecundarias. Caso clínico. Mujer de 51 años con distonía focal delpie de 3 años de evolución. La paciente presentaba posturaen flexión plantar e inversión del pie que empeoraba con laacción. Las exploraciones complementarias dirigidas a descartarcausas secundarias fueron negativas. A lo largo de suevolución el fenómeno distónico permaneció limitado al piey no desarrolló otra sintomatología neurológica. La pacientese benefició de tratamiento con toxina botulínica. Conclusiones. La distonía focal primaria idiopática delpie en el adulto es excepcional. El patrón más común es laflexión plantar y de los cinco dedos. El dolor asociado es unsíntoma relativamente frecuente. La patogenia es sólo parcialmenteconocida, los estudios neurofisiológicos y de resonanciafuncional demuestran que existe una pérdida delcontrol inhibitorio a nivel espinal y troncoencefálico, unaplasticidad cortical anómala y una integración sensitivomotoradefectuosa. La respuesta al tratamiento con fármacosorales es escasa, pero los pacientes pueden beneficiarsede la infiltración con toxina botulínica en los músculos implicados

Introduction. Adult-onset primary focal foot dystoniais a rare event. Up to now, only 7 cases have been reportedin the literature. Since the idiopathic-type fooddystonia is uncommon in adults, secondary types mustbe ruled out. Clinical report. We present the case of a 51 yearwoman with a 3 year history of focal food dystonia. Shehad abnormal posture of the foot with plantar flexionand inversion, which worsened with action. Complementarystudies aimed at ruling out secondary causes wereall negative. The dystonia remained limited to her foodand she did not develop any other neurological symptoms.She benefited from botulinum toxin treatment. Conclusions. Primary focal foot dystonia is uncommonin adults. The most common pattern is plantar andfive toes flexion. Associated pain is common. Its pathogenesisis only partially understood, the neurophysiologicstudies and functional resonance showing a loss ofinhibitory control at spine and brainstem levels, abnormalcortical plasticity and altered sensorimotor integration.The response of this disorder to drugs is poor, however,the patients may benefit from botulinum toxininfiltrations of the muscles involved

[Hemifacial spasm: over 10 years of treatment with botulinum toxin]. / Espasmo hemifacial: más de 10 años de tratamiento con toxina botulínica.

INTRODUCTION: The short-term beneficial and adverse effects of treatment with botulinum toxin (BT) in hemifacial spasm (HS) are well documented, but this is not the case with its long-term derivatives. AIMS. To describe the characteristics, the dose development, the side effects and the reason for giving up therapy in patients who have been on BT treatment for more than 10 years. We also sought to evaluate the effectiveness and safety of prolonged treatment in patients with HS. PATIENTS AND METHODS: We reviewed the demographic and clinical characteristics of patients who had had HS for more than 10 years since follow-up began. We analysed the mean dose development of BT per visit and year, the number of sessions per year, side effects and reasons for dropping out. We focused our attention on cases with more than 10 years' continuous treatment. RESULTS: The percentage of patients who had been on treatment for over ten years was 53.7%. The mean dose of BT per year rose progressively, and was significant (p < 0.05) during the first four years of treatment. There was no significant increase in the number of sessions. Altogether 46 side effects were observed, ptosis being the most frequent. These occurred during the first years of the early stages of the technique. The most common cause of dropout was loss to follow-up in 22 patients, followed by death in 11 cases. CONCLUSIONS: BT is a feasible, safe treatment option (with very few benign side effects) in the prolonged treatment of patients with HS.

[Early-onset Parkinsonism. A report on a Spanish series]. / Parkinson de inicio precoz. A proposito de una serie espanola.

INTRODUCTION: Early-onset Parkinsonism is a condition that has received little attention from researchers due to its low incidence and prevalence. We conducted a retrospective, cross-sectional, multi-centre study in order to obtain a representative sample of the Spanish population. PATIENTS AND METHODS: The study involved 92 Spanish patients who had been diagnosed with idiopathic Parkinson's disease that began before the age of 40 years and these patients were divided into two groups: group 1, which consisted of 86 patients, with an age at onset of between 21 and 40 years (early-onset Parkinsonism), and group 2, with an age at onset of below 21 years, which included a total of 6 patients (juvenile Parkinsonism). Our analysis involved demographic data, patient's personal and family history, age and symptoms of onset of the disease, complementary studies, drug therapy and pharmacological complications. RESULTS: In group 1 we found a high incidence of early-onset Parkinsonism in the family. In our series there was a clear predominance of patients from urban settings. The predominant form of onset was akinesia, followed by tremor at rest, rigidity and postural tremor. Since they began treatment with levodopa, some patients presented fluctuations and dyskinesias which progressively increased over the years. CONCLUSIONS: Our series of patients is not wholly similar to those reported in the literature; it is comparable, however, to those found in western countries and can be considered to be valid due to the number of cases analysed and owing to the fact that patients were selected from different areas around Spain. This provides an overall picture of this subtype of Parkinson's disease for the country as a whole.

Parkinson de inicio precoz. A propósito de una serie española / Early-onset parkinsonism a report on a Spanish series

El Parkinson de inicio precoz es una entidad poco estudiada a causa de la baja incidencia y prevalencia.Hemos realizado un estudio retrospectivo transversal multicéntrico para tener una muestra representativa de la población española. Pacientes y métodos. Se incluyeron en el estudio 92 pacientes españoles diagnosticados de enfermedad de Parkinsonidiopática de inicio antes de los 40 años, que se dividieron en dos grupos: grupo 1, con 86 pacientes, con edad de inicio entre 21 y 40 años (Parkinson de inicio precoz), y grupo 2, con edad de inicio inferior a los 21 años, con un total de 6 pacientes (Parkinson juvenil). Analizamos: datos demográficos, antecedentes personales y familiares, edad y síntomas de comienzode la enfermedad, estudios complementarios, farmacoterapia y complicaciones farmacológicas. Resultados. En el grupo 1 encontramos una gran incidencia familiar de Parkinson de inicio precoz. En nuestra serie hubo un claro predominiode pacientes del medio urbano. La forma predominante de inicio fue la acinesia, seguida del temblor de reposo, rigidez y temblor de actitud. Algunos pacientes presentaron, desde el inicio del tratamiento con levodopa, fluctuaciones y discinesias queaumentaron progresivamente a lo largo de los años. Conclusiones. Nuestra serie de pacientes no es totalmente similar con lasdescritas en la literatura; sí es parecida a las encontradas en los países occidentales y tiene validez por el número de casosanalizados y por seleccionar pacientes de varios sitios del territorio español, dando una imagen general sobre este subtipo de enfermedad de Parkinson nacionalmente

Early-onset Parkinsonism is a condition that has received little attention from researchers due to itslow incidence and prevalence. We conducted a retrospective, cross-sectional, multi-centre study in order to obtain a representative sample of the Spanish population. Patients and methods. The study involved 92 Spanish patients who had been diagnosed with idiopathic Parkinson's disease that began before the age of 40 years and these patients were divided into twogroups: group 1, which consisted of 86 patients, with an age at onset of between 21 and 40 years (early-onset Parkinsonism), and group 2, with an age at onset of below 21 years, which included a total of 6 patients (juvenile Parkinsonism). Our analysisinvolved demographic data, patient’s personal and family history, age and symptoms of onset of the disease, complementary studies, drug therapy and pharmacological complications. Results. In group 1 we found a high incidence of early-onset Parkinsonism in the family. In our series there was a clear predominance of patients from urban settings. The predominant form of onset was akinesia, followed by tremor at rest, rigidity and postural tremor. Since they began treatment with levodopa, some patients presented fluctuations and dyskinesias which progressively increased over the years. Conclusions. Our series of patients is not wholly similar to those reported in the literature; it is comparable, however, to those found in western countries and can be considered to be valid due to the number of cases analysed and owing to the fact that patients were selected from different areas around Spain. This provides an overall picture of this subtype of Parkinson's disease for the country as a whole

[Painful tic convulsif and Botulinum toxin]. / Tic convulsivo doloroso y toxina botulínica.

INTRODUCTION: Painful tic convulsif is a rare disorder that associates trigeminal neuralgia (TN) and ipsilateral hemifacial spasm (HFS). These two disorders are the most common examples of hyperactive cranial rhizopathy and are frequently caused by vascular compression of these cranial nerves at the nerve root entry and exit zone in the brain stem, which leads to paroxysmal ephaptic transmission. CASE REPORTS: We report the cases of four patients with combined TN and HFS out of a total of 247 patients with HFS who were treated with botulinum toxin. One patient had TN that was contralateral to the HFS, while the other three were ipsilateral, and one of these had bilateral HFS. In all four cases both the HFS and the TN improved with botulinum toxin treatment. CONCLUSIONS: These four patients with TN and HFS suggest a common aetiology for the two disorders, due either to central neuronal hyperactivity or to vascular compression of several cranial nerves. The beneficial effect of botulinum toxin in both disorders supports the idea of this toxin having a central mechanism of action that acts by controlling neuronal hyperactivity in the brain stem, as well as its peripheral action.

Tic convulsivo doloroso y toxina botulínica / Painful tic convulsif and botulinum toxin

Introducción. El tic convulsivo doloroso es un trastorno poco frecuente que asocia neuralgia del trigémino (NT) y espasmo hemifacial (EHF) ipsilateral. Ambos trastornos son los dos ejemplos más usuales de rizopatía hiperactiva craneal, causados frecuentemente por la compresión vascular de estos nervios craneales en la zona de entrada y salida de las raíces en el tronco del encéfalo, la cual produce una transmisión efáptica paroxística. Casos clínicos. Cuatro pacientes con la combinación de NT y EHF de un total de 247 pacientes con EHF tratados con toxina botulínica. Un paciente padeció NT contralateral al EHF, los otros tres ipsilateral, uno de los cuales con EHF bilateral. Los cuatro presentaron una mejoría tanto del EHF como de la NT con el tratamiento con toxina botulínica. Conclusiones. Estos cuatro pacientes con NT y EHF sugieren una etiología común de ambos trastornos, por hiperactividad neuronal central o por compresión vascular de múltiples parescraneales. El efecto beneficioso de la toxina botulínica en ambos trastornos apoya un mecanismo central de acción de dicha toxina mediante el control de la hiperactividad neuronal en el tronco del encéfalo, además de su acción periférica (AU)

Introduction. Painful tic convuls if is a rare disorder that associates trigeminal neuralgia (TN) and ipsilateral hemifacial spasm (HFS). These two disorders are the most common examples of hyperactive cranial rhizopathy and are frequently caused by vascular compression of these cranial nerves at the nerve root entry and exit zone in the brain stem, which leads toparoxysmal ephaptic transmission. Case reports. We report the cases of four patients with combined TN and HFS out of a total of 247 patients with HFS who were treated with botulinum toxin. One patient had TN that was contralateral to the HFS, while the other three were ipsilateral, and one of these had bilateral HFS. In all four cases both the HFS and the TN improved with botulinum toxin treatment. Conclusions. These four patients with TN and HFS suggest a common a etiology for the two disorders, due either to central neuronal hyperactivity or to vascular compression of several cranial nerves. The beneficial effect of botulinum toxin in both disorders supports the idea of this toxin having a central mechanism of action that acts by controlling neuronal hyperactivity in the brain stem, as well as its peripheral action (AU)

[Bilateral hemifacial spasm: eight personal case reports]. / Espasmo hemifacial bilateral. A propósito de ocho casos.

INTRODUCTION: Hemifacial spasms consist in tonic clonic, involuntary, asymmetrical and asynchronous contractions in the territory innerved by the facial nerve. Several different causes may give rise to this disorder, the most frequent of which are vascular abnormalities in the cerebellopontine angle. Its clinical features and electrophysiological studies are commonly used in diagnosis and its etiological diagnosis is most frequently performed by means of magnetic resonance imaging. Symptoms are treated using local injections of Botulinum toxin Type A in the affected muscles. AIMS: To review our experience in the handling of this pathological condition and to determine the results of employing Botulinum toxin. PATIENTS AND METHODS: We describe the cases of bilateral hemifacial spasms that have been diagnosed in the Virgen Macarena Hospital in Seville and La Fe in Valencia since 1980, as well as the follow up after treatment with Botulinum toxin. RESULTS: We describe eight cases of this pathological condition in which patients were treated with Botulinum toxin, and in all cases there was an improvement in the symptoms. CONCLUSIONS: Treatment with Botulinum toxin is considered to be satisfactory and provides a marked improvement in the patients quality of life.

[Check-ups with brain SPECT in electroconvulsive therapy in patients with severe drug-resistant depressive episodes and Parkinson's disease]. / Control con SPECT cerebral en la terapia electroconvulsiva en pacientes con episodio depresivo grave farmacorresistente y enfermedad de Parkinson.

We have studied three women (66,72 and 72 years) with Parkinson's disease of 11, 6 and 21 years of evolution and drug-resistant severe depressive episodes treated with electroconvulsive therapy (ECT). We have performed a brain SPECT (99mTc-HMPAO) before and after the ECT. The clinical improvement of the severe depressive episodes were measured using the Hamilton score. The first patient did not experience any clinical improvement (Hamilton score 42 to 42). In this patient the brain SPECT before treatment presented a reduced perfusion in the posterior parietal region, anterior cingulate cortex and medial frontal and parietal cortex. After the treatment, the brain SPECT did not present significant variations. The second patient presented a moderate clinical improvement (Hamilton score 46 to 36) and also presented moderate improvement in the neurological symptoms. The brain SPECT before the treatment showed reduced perfusion in the left temporal cortex and medium-posterior parietal cortex. After the treatment, it also did not reflect significant variations. The third patient experienced a very good response to the ECT sessions (Hamilton score 45 to 10) and also an improvement regarding the neurological symptoms. This patient presented a reduced perfusion in the medium-posterior parietal regions in the brain SPECT performed before the treatment; these regions presented a moderate improvement in the brain SPECT performed after the treatment. The patient who presented a significant neurological and psychiatric improvement also presented an improvement in the perfusion of the decreased areas in the brain SPECT and showed fewer alterations in the baseline brain SPECT compared with the others. The brain SPECT could have a prognostic (and confirmation) role regarding clinical improvement induced by ECT in resistant depression in Parkinson's disease. ECT is an alternative in treatment of severe depressive drug-resistant episodes associated to the Parkinson's disease.

Espasmo hemifacial bilateral. A propósito de ocho casos / Bilateral hemifacial spasm: eight personal case reports

Introducción. El espasmo hemifacial consiste en contracciones tonicoclónicas, involuntarias, asimétricas y asincrónicas en el territorio inervado por el nervio facial. Originadas por múltiples causas, las más frecuentes son las anormalidades vasculares del ángulo pontocerebeloso. Su diagnóstico mediante la clínica y estudios electrofisiológicos, así como su diagnóstico etiológico a través de técnicas de resonancia magnética está ampliamente extendido. Para su tratamiento sintomático se utiliza la inyección local de la toxina botulínica tipo A en los músculos afectos. Objetivos. Revisar nuestra experiencia en el manejo de esta patología y determinar los resultados con el uso de la toxina botulínica. Pacientes y métodos. Realizamos la descripción de los casos de espasmo hemifacial bilateral que se han diagnosticado desde 1980 en los hospitales Virgen Macarena de Sevilla y La Fe de Valencia, así como el seguimiento tras el tratamiento con toxina botulínica. Resultados. Describimos ocho casos de esta patología en los que se siguió el tratamiento con toxina botulínica, y en todos los individuos se obtuvo una mejoría de los síntomas. Conclusiones. El tratamiento con toxina botulínica se considera satisfactorio y proporciona una mejora ostensible de la calidad de vida de los pacientes (AU)

Control con SPECT cerebral en la terapia electroconvulsiva en pacientes con episodio depresivo grave farmacorresistente y enfermedad de Parkinson / Control with brain SPECT in electroconvulsive therapy in patients with severe depressive drugresistant episodes and Parkinson's disease

Hemos estudiado tres mujeres de 62, 72 y 72 años con enfermedad de Parkinson de 11, 6 y 21 años de evolución y episodios depresivos graves fármaco-resistentes, tratados con terapia electro-convulsiva (TEC). La mejoría clínica de la depresión se midió utilizando la escala de Hamilton. Hemos realizado un SPECT cerebral (99mTcHMPAO) antes y después de la realización de la TEC. La primera paciente no experimentó ninguna mejoría clínica estable (puntuación en la escala de Hamilton de 42 a 42). En esta paciente el SPECT cerebral de perfusión antes del tratamiento presentaba disminución de la perfusión en áreas parietales posteriores, córtex cingular anterior y medial, córtex frontal y parietal. Tras el tratamiento el SPECT no sufrió variaciones significativas. La segunda paciente presentó una mejoría clínica moderada (Hamilton de 46 a 36) y en la sintomatología neurológica. El SPECT cerebral previo al tratamiento mostraba perfusión reducida en el córtex temporal izquierdo y parietal medio-posterior. Tras el tratamiento no experimentó cambios significativos. La tercera paciente respondió de manera muy satisfactoria a la TEC (Hamilton de 45 a 10 e importante mejoría de los síntomas neurológicos). Esta paciente presentaba una perfusión disminuida en las regiones parietales medias y posteriores en el estudio previo al tratamiento. Estas regiones presentaron una mejoría moderada en el estudio posterior. La paciente que presentó mejoría neurológica y psiquiátrica significativa, presentó también una mejoría en la perfusión de las áreas más afectadas en el SPECT cerebral previo y además mostraba menos alteraciones en el estudio basal que las otras pacientes. El SPECT cerebral podría tener un papel pronóstico (y de confirmación) respecto a la mejoría clínica inducida por TEC en la depresión resistente en la enfermedad de Parkinson. La TEC es una alternativa en el tratamiento de los episodios depresivos graves fármaco-resistentes asociados a la enfermedad de Parkinson (AU)

[Urinary alterations in multiple sclerosis]. / Alteraciones urinarias en la esclerosis múltiple.

INTRODUCTION: The neurourological disorders of the lower urinary tract occur during the course of multiple sclerosis. Their expression as irritative, obstructive or mixed symptoms, in accordance with the standardized terminology of the International Continence Society, varies in each patient and also during the course of the illness of each patient. These vesicourinary disorders reduce the quality of life and their complications worsen the prognosis for survival if they are not suitably treated. DEVELOPMENT AND CONCLUSIONS: We review the anatomical and physiological basis integrating and coordinating vesical sphincter function; the dynamics of micturition with its phases of filling and emptying, their coordination with the sphincters through the different centres and circuits of the nervous system; the physiopathology, in relation to the localization of the plaques of demyelination, of incontinence due to detrusor hyperreflexia, hyperreflexia with dyssynergia, hyperreflexia of the detrusor with hypoactivity of the detrusor during the emptying phase and finally due to areflexia. The symptomatology and clinical features vary from 60% to 80% in the different series of cases, depending on the time of evolution and degree to which the patients are affected, with a predominance of irritative rather than obstructive symptoms. The treatment, which requires precise classification of the disorders, is with anticholinergic drugs or alpha 1 blocking and myorelaxant drugs, surgery, neurostimulators, rehabilitation, catheterism, the use of absorbent and collectors, other techniques and therapies which are being developed, without forgetting measures to prevent complications.

Alteraciones urinarias en la esclerosis múltiple / Urinary alterations in multiple sclerosis

Introducción. Los trastornos neurourológicos del tracto urinario inferior aparecen a lo largo de la evolución de la esclerosis múltiple. Su expresión como sintomatología irritativa, obstructiva o mixta, según la terminología estandarizada de la Sociedad Internacional de Continencia, varía en cada paciente e incluso en el transcurso de la enfermedad de un mismo paciente. Estos trastornos vesicourinarios merman la calidad de vida y sus complicaciones ensombrecen el pronóstico vital si no reciben el tratamiento adecuado. Desarrollo y conclusiones. Repasamos las bases anatómicas y fisiológicas que integran y coordinan las funciones vesicoesfinterianas; la dinámica miccional con las fases de llenado y vaciado, su coordinación con los esfínteres mediante los distintos centros y circuitos del sistema nervioso; la fisiopatología, en relación con la localización de las placas de desmielinización, de la incontinencia por hiperreflexia del detrusor, por hiperreflexia con disinergia, por hiperreflexia del detrusor con hipoactividad del mismo en la fase de vaciado y finalmente por arreflexia; la sintomatología y clínica, que varía de un 60 a un 80 por ciento según las series y depende del tiempo de evolución y grado de afectación de los pacientes, con un predominio de la sintomatología irritativa sobre la obstructiva, y el tratamiento, que precisa de una correcta tipificación de los trastornos, con fármacos anticolinérgicos o fármacos bloqueadores alfa 1 y miorrelajantes, cirugía, neuroestimuladores, rehabilitación, cateterismos, uso de absorbentes y colectores, otras técnicas y terapias en desarrollo, sin olvidar las medidas de prevención de complicaciones (AU)

[Urinary and sexual alterations in multiple sclerosis]. / Alteraciones urinarias y sexuales en la esclerosis múltiple.

Urinary and sexual symptoms in patients with multiple sclerosis (MS) are frequent, although this question has scarcely been addressed in our country. The aim of this study is to prospectively evaluate the presence of such symptoms in 77 MS patients. We have valued the neurological involvement and the degree of functional disability through the Minimum Dossier of Disability for Multiple Sclerosis. The urinary and sexual symptoms were collected through a directed survey. We have performed an urodynamic study in order to evaluate the bladder function. Urinary symptoms wire observed in 81.8% of patients, with predominance of the mixed syndrome (52%). Males show greater neurological affectation and functional disability, as well as greater urinary symptoms frequency (91%). The most frequent symptoms have been urgency (66.6%), frequency (60.3%) and dysuria (53.8%). The complications have been scarce, of infectious type (14.28%) and with female predominance. The most frequent urodynamic finding has been the detrusor hyperreflexia (60%). The minimum dossier of Disability for Multiple Sclerosis is useful to establish comparative parameters with other studies and with more specific urologic data. The presence of urinary symptoms in multiple sclerosis correlated with the degree of neurological (pyramidal and cerebellar) involvement and of functional disability in the Dysfunction Status Escale.

[Neurologic changes in patients with multiple sclerosis]. / Alteraciones neurourológicas en pacientes afectos de esclerosis múltiple.

OBJECTIVE: To evaluate the presence of urinary symptoms in 77 patients with multiple sclerosis. METHODS: The neurological compromise and the degree of functional disability were evaluated through the Minimum Dossier of Disability for Multiple Sclerosis. The pertinent data for the urinary symptoms were collected through a directed survey. A urodynamic study was performed to evaluate bladder function. RESULTS: 81.8% of the patients had urinary symptoms, the most prevalent being the mixed syndrome (52%). Neurological involvement and functional disability were greater in the male patients and there was a higher incidence of urinary symptoms (91%). Urgency (66.6%), frequency (60.3%) and dysuria (53.8%) were the most common urinary symptoms. The complication rate was low; infection was the most common complication (14.28%) and was more prevalent in the females. Detrusor hyperreflexia (60%) was the most frequent urodynamic finding. CONCLUSIONS: Urinary symptoms are frequent in multiple sclerosis (81.8%), the most prevalent being the mixed syndrome. Neurological involvement and functional disability are greater in the male patients and there is a higher incidence of urinary symptoms. There is a significant correlation between the severity of neurological compromise (pyramidal and cerebellar) and the degree of functional disability and the presence of urinary symptoms.

[Huntington disease: clinical and genetic study in a Spanish population]. / Enfermedad de Huntington: estudio clínico y genético en una población española.

Clinical and genetic data of 18 unrelated patients diagnosed of Huntington's disease were studied. We examined age of onset, form of presentation, years of evolution and scores on the Shoulson-Fahn function scale, the Myers disability scale and the mini-mental state examination. The 3 clinical parameters show a linear correlation with years of disease duration. The mini-mental test was most sensitive to progression and was most closely correlated (r = 0.75, p = 0.001). Molecular analysis of the IT15 gene for all 18 patients and 96 control chromosome was performed; the range of CAG repeats was 9-29 for controls and 36-69 for patients. The correlation decreased exponentially with age of onset of symptoms and number of CAG repeats.