Neurologic Conditions Associated with Cavus Foot Deformity.

The cavus foot deformity is an often less understood deformity within the spectrum of foot and ankle conditions. The hallmark concern is the possibility of an underlying neurologic or neuromuscular disorder. Although a proportion of these deformities are idiopathic, a significant majority do correlate with an underlying disorder. The appropriate evaluation of this deformity, in coordination within the multidisciplinary scope of health care, allows for a timely diagnosis and understanding of the patient's condition. We provide an abbreviated survey of possible underlying etiologies for the patient with the cavus foot deformity as a reference to the foot and ankle surgeon.

Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly.

Autosomal-recessive cerebellar hypoplasia and ataxia constitute a group of heterogeneous brain disorders caused by disruption of several fundamental cellular processes. Here, we identified 10 families showing a neurodegenerative condition involving pontocerebellar hypoplasia with microcephaly (PCHM). Patients harbored biallelic mutations in genes encoding the spliceosome components Peptidyl-Prolyl Isomerase Like-1 (PPIL1) or Pre-RNA Processing-17 (PRP17). Mouse knockouts of either gene were lethal in early embryogenesis, whereas PPIL1 patient mutation knockin mice showed neuron-specific apoptosis. Loss of either protein affected splicing integrity, predominantly affecting short and high GC-content introns and genes involved in brain disorders. PPIL1 and PRP17 form an active isomerase-substrate interaction, but we found that isomerase activity is not critical for function. Thus, we establish disrupted splicing integrity and "major spliceosome-opathies" as a new mechanism underlying PCHM and neurodegeneration and uncover a non-enzymatic function of a spliceosomal proline isomerase.

Disorders of mitochondrial dynamics in peripheral neuropathy: Clues from hereditary neuropathy and diabetes.

Peripheral neuropathy is a common and debilitating complication of diabetes and prediabetes. Recent clinical studies have identified an association between the development of neuropathy and dyslipidemia in prediabetic and diabetic patients. Despite the prevalence of this complication, studies identifying molecular mechanisms that underlie neuropathy progression in prediabetes or diabetes are limited. However, dysfunctional mitochondrial pathways in hereditary neuropathy provide feasible molecular targets for assessing mitochondrial dysfunction in neuropathy associated with prediabetes or diabetes. Recent studies suggest that elevated levels of dietary saturated fatty acids (SFAs) associated with dyslipidemia impair mitochondrial dynamics in sensory neurons by inducing mitochondrial depolarization, compromising mitochondrial bioenergetics, and impairing axonal mitochondrial transport. This causes lower neuronal ATP and apoptosis. Conversely, monounsaturated fatty acids (MUFAs) restore nerve and sensory mitochondrial function. Understanding the mitochondrial pathways that contribute to neuropathy progression in prediabetes and diabetes may provide therapeutic targets for the treatment of this debilitating complication.

Nueva observación de la protección relativa que las enfermedades neurodegenerativas y el cáncer se confieren entre sí / New evidence of the relative protective effects of neurodegenerative diseases and cancer against each other

Introducción: El cáncer y las enfermedades degenerativas constituyen trastornos con algunos mecanismos compartidos que actúan en sentido opuesto, produciendo un fenómeno incontrolado de proliferación o pérdida de células. Observaciones diversas apuntan que los pacientes con enfermedad de Alzheimer tienen menor riesgo de desarrollar tumores y viceversa. En este artículo se expone la prevalencia de tumores (activos o superados) en pacientes de neurología cognitiva con y sin una enfermedad degenerativa demenciante. Pacientes y método: En 1.164 pacientes se analizó la frecuencia y topografía de tumores y la presencia o ausencia de enfermedad neurodegenerativa, que se clasificó en 4 grupos (enfermedad de Alzheimer, sinucleinopatía, enfermedad del complejo Pick y del complejo de poliglutamina). Se comparó la frecuencia de tumor en los subgrupos con y sin enfermedad degenerativa, y de esta en los pacientes con y sin trastorno tumoral. Resultados: Se registró proceso tumoral en el 12,1% de los pacientes con enfermedad neurodegenerativa y en el 17,3% del resto del grupo. En el grupo del estudio, un 14,8% de los que tienen antecedente tumoral fue diagnosticado de enfermedad neurodegenerativa, frente al 20,8% entre los que no tienen ese antecedente. Estas diferencias y las observadas en la comparación de subgrupos (tipo de enfermedad degenerativa y topografía del tumor) no alcanzaron significación estadística, excepto al contrastar enfermedades neurodegenerativas con tumores del sistema nervioso central y sinucleinopatías con neoplasias. Conclusiones: Las enfermedades neoplásicas y las neurodegenerativas demenciantes no son excluyentes, aunque muestran menor asociación de la esperada por su respectiva prevalencia

Background: Cancer and degenerative diseases share some pathogenic mechanisms which act in opposition to one another to produce either uncontrolled cell proliferation or cell death. According to several studies, patients with Alzheimer disease have a lower risk of neoplasia, and vice versa. This study describes the prevalence of tumours (active or successfully treated) in a series of patients with and without a dementing degenerative disease treated at a cognitive neurology unit. Patients and method: We analysed the frequency and topography of tumours and the presence or absence of a neurodegenerative disease in a group of 1,164 patients. Neurodegenerative diseases were classified in 4 groups: Alzheimer disease, synucleinopathies, Pick complex, and polyglutamine complex. We subsequently compared tumour frequency in patients with and without a degenerative disease, and prevalence of neurodegenerative diseases in patients with and without tumours. Results: Tumours were detected in 12.1% of the patients with a neurodegenerative disease and in 17.3% of the remaining patients. Around 14.8% of the patients with a history of neoplasia and 20.8% of the patients with no history of neoplasia were diagnosed with a neurodegenerative disease. Except for these differences and the differences between subgroups (type of degenerative disease and tumour location) were not statistically significant, except when comparing neurodegenerative diseases to central nervous system tumours, and synucleinopathies to neoplasms. Conclusion: Dementing degenerative diseases and neoplastic disorders are not mutually exclusive. Nevertheless, the rate of co-occurrence is lower than would be expected given the prevalence rate for each group

[Epileptic encephalopathies]. / Encefalopatias epilepticas.

According to the International League Against Epilepsy's (ILAE) Commission on Classification and Terminology, the term 'epileptic encephalopathy' reflects the notion that epileptic activity in itself can contribute to the genesis of severe cognitive or behavioural disabilities, beyond what could be expected from the pathology underlying the epilepsy. However, in many cases it is difficult to define the boundary between the relative contribution of the epileptic seizures and the underlying cause in the genesis of cognitive deficits. Some epileptic syndromes, such as those of West, Lennox-Gastaut or Dravet, are associated to a high probability of encephalopathic traits. The most frequent causes of epileptic encephalopathy are hypoxic-ischaemic encephalopathy, brain malformations, including cortical dysplasias, chromosomal or genetic disorders, tuberous sclerosis and metabolic diseases.

TITLE: Encefalopatias epilepticas.Segun la Comision de Clasificacion y Terminologia de la Liga Internacional contra la Epilepsia (ILAE), el termino 'encefalopatia epileptica' refleja la nocion de que la actividad epileptica en si misma puede contribuir a la genesis de graves discapacidades cognitivas o comportamentales, mas alla de lo que seria de esperar de la patologia subyacente a la epilepsia. No obstante, en muchos casos resulta dificil deslindar la contribucion relativa de las crisis epilepticas y la causa subyacente en la genesis de los deficits cognitivos. Algunos sindromes epilepticos, como los de West, Lennox-Gastaut o Dravet, se asocian con una alta probabilidad de rasgos encefalopaticos. Las causas mas frecuentes de encefalopatia epileptica son la encefalopatia hipoxico-isquemica, las malformaciones cerebrales, incluyendo las displasias corticales, las alteraciones cromosomicas o geneticas, la esclerosis tuberosa y las enfermedades metabolicas.

Efecto del plasma rico en plaquetas y/o factores de crecimiento sobre la regeneración y el dolor crónico asociado a discopatía intervertebral. Revisión sistemática / Effect of platelet rich plasma and growth factors on the regeneration and chronic pain associated with intervertebral disc disease. Systematic review

Objetivo: Determinar el efecto del plasma rico en plaquetas y factores de crecimiento sobre la regeneración y la reducción del dolor en discopatía degenerativa. Material y método: Revisión sistemática de la literatura. Se siguió las recomendaciones de la colaboración Cochrane expuestas en el Cochrane Hand book for Systematic Reviews of interventions. Se incluyeron ensayos clínicos aleatorizados fases preclínicas y clínicas donde evaluaban el efecto del plasma rico en plaquetas o factores de crecimiento sobre la discopatía degenerativa entre el 1 de septiembre de 2013 y el 30 de septiembre de 2014, publicados en PubMed, MEDLINE y LILACS. Resultados: En la búsqueda inicial se identificaron 11 artículos, de los cuales 3 cumplieron los criterios de selección determinados para esta revisión. Se realizó estrategia de búsqueda donde se revisaron las citas relacionadas de los tres artículos principales. De éstos, sólo 6 cumplieron los criterios de selección. Se incluyeron dos artículos más que arrojó la búsqueda en google académico, quedando un total de 10 estudios para el análisis final. En esta revisión, nosotros incluimos en la búsqueda de no sólo aquellos estudios realizados in vitro, sino además aquellos estudios en modelos murinos y estudio realizado en humanos. De estos estudios, la mayor parte de ellos fueron realizados in vitro (6), en modelos animales (2) y en humanos (2). En este estudio se seleccionaron sólo aquellos estudios donde fue evaluado el PRP y/o los factores de crecimiento sobre las células o tejidos del disco intervertebral. Para poder conocer el efecto que estas sustancias, tienen que ser evaluadas en estudios tanto preclínicos como clínicos. Todos los estudios analizados coincidieron sobre el efecto antiinflamatorio, reparador, proliferador e incluso en la mejoría del dolor de la discopatía vertebral. Conclusiones: Los resultados de los estudios muestra el efecto antiinflamatorio, reparador, proliferador e incluso en la mejoría del dolor de la discopatía vertebral. En ninguno de ellos se mencionó si este aumento de la síntesis de la matriz conllevaría a una mayor fibrosis del tejido y mayor deterioro, por lo que los estudios en animales o en humanos deberían enfocarse a evaluar un seguimiento mayor para poder evaluar los efectos tardíos de la terapia. Por lo tanto, podemos concluir que los puntos de enfoque de la investigación actual debe apuntar hacia entender más el mecanismo de la degeneración discal conjuntamente con los beneficios del PRP en tratarla (AU)

Objective: To determine the effect of platelet-rich plasma and growth factors on regeneration and reduction of pain in degenerative disc disease. Methods: Systematic review of the literature. The recommendations of the Cochrane Collaboration Cochrane outlined in the Handbook for Systematic Reviews of interventions was followed; randomized clinical trials preclinical and clinical phases which evaluated the effect of platelet-rich plasma or growth factors for degenerative disc disease between september 1/2013 to september 30/2014, published in PubMed, MEDLINE and LILACS were included. Results: The initial search 11 items of which 3 met the selection criteria determined for this review were identified. Search strategy where citations related to the three main articles were reviewed was conducted. Of these only 6 met the selection criteria. Threw two articles in academic google search, leaving a total of 10 studies were included in the final analysis. In this review we include in the search not only those studies in vitro but also those studies in murine models and human study. From these studies, most of them were done in vitro (6), in animal models (2) and in humans (2). In those studies where this study was evaluated PRP and growth factors on cells or tissues of the intervertebral disc is selected alone. To know the effect these substances have to be evaluated in both preclinical and clinical studies. All studies reviewed agreed on the anti-inflammatory effect, repair, and even proliferator improvement in pain, vertebral discopathy. Conclusions: The results of studies showing the anti-inflammatory effect, repair, and even proliferator improvement in pain, vertebral discopathy. None of them mention whether this increased matrix synthesis would lead to greater tissue fibrosis and further deterioration, so that studies in animals or humans should focus on evaluating increased monitoring, to assess late effects of therapy. Therefore we can conclude that the focus points of the present investigation should point to more understand the mechanism of disc degeneration together with the benefits of PRP to treat it (AU)

Bases funcionales cerebrales de los procesos cognitivos y su aplicación al estudio de las demencias / Functional cerebral basis of cognitive processes and its application to the study of dementia

Los neurocientíficos prestan un interés creciente al estudio de los mecanismos neuronales del aprendizaje motor y cognitivo y a la manera en que las distintas estructuras cerebrales permiten aprender y recordar. A través de uno de los modelos experimentales más utilizados (el condicionamiento clásico del reflejo corneal) describimos las características cinéticas de los movimientos palpebrales reflejos y aprendidos y las propiedades funcionales de las motoneuronas faciales que inervan el músculo orbicular de los párpados en referencia a diversos centros nerviosos relacionados con el aprendizaje asociativo. Explicamos el papel del núcleo interpósito posterior del cerebelo en la generación y control de los movimientos palpebrales reflejos y aprendidos y proponemos que el hipocampo participa también en el condicionamiento asociativo, contribuyendo a la identificación de la relevancia o valor predictivo del estímulo condicionado, pero no a la ejecución de la respuesta palpebral aprendida. Se señala la contribución que hacen las cortezas somatosensorial, motora y prefrontal en este tipo de aprendizaje. Puede que una descripción más detallada de cómo el cerebro permite aprender y recordar nos ayude a un mejor entendimiento de las enfermedades neurodegenerativas que afectan los procesos cognitivos (AU)

For several recent decades, neuroscientists have paid a growing interest to the study of the neural mechanisms underlying motor and cognitive learning. The main aim is to determine how different brain structures make possible to learn and to remember. In this sense, one of the most widely used experimental models is the classical conditioning of the corneal reflex. In this review we describe the kinematics of reflex and conditioned eyeblinks and the functional properties of facial motoneurons that innervate the orbicularis oculi muscle. Special reference is made to various neuronal centers related to associative learning. In particular, we describe the role of the posterior interpositus nucleus of the cerebellum in the generation and control of reflex and learned eyelid responses. In addition, it is proposed that the hippocampus is also involved in this type of associative learning, helping to identify the relevance, salience, or predictive value of the conditioned stimulus, but not the execution of learned eyelid responses. Finally, we describe the contributions of somatosensory, motor, and prefrontal cortices to this type of associative learning. It is expected that the use of experimental models similar to the one described here will allow, in the near future, to explain the neuronal processes underlying learning and memory, and to address in depth the study of various neurodegenerative disorders affecting mainly learning and other cognitive processes (AU)

Síndrome hipotónico del lactante / Hypotonic syndrome in the newborn infant

Entendemos como hipotonía la disminución acentuada del tono muscular que afecta al desarrollo motor normal y que puede afectar a la musculatura axial y de los miembros y, en ocasiones, a la facial. Es un cuadro que genera un gran desafío ya que, en su universo, comprende una serie bastante amplia de condiciones que afectan a distintas áreas del sistema nervioso, tanto central como periférico, y que pueden ser expresión de patologías de corte benigno o de pronóstico reservado. Abarcan miopatías, alteraciones metabólicas, enfermedades de corte genético, endocrinopatías y enfermedades progresivas o crónicas, entre otras causas. El gran desarrollo de la medicina actual ha logrado poner a disposición del examinador múltiples herramientas que permiten afinar o aseverar el diagnóstico, entre las que destacan los desarrollos logrados en las investigaciones genéticas, así como los estudios de imágenes y de microscopía óptica y electrónica. Sin embargo, pese a toda esta oferta, sigue siendo la clínica la que permite usar racionalmente estos avances y orientar hacia la posible etiología, localización topográfica y control evolutivo. Es de utilidad, para el enfoque diagnóstico y la utilización de métodos auxiliares, que la localización topográfica de la afectación ya esté ésta ubicada en el cerebro, el cerebelo, el tallo, la médula, los nervios periféricos, la unión mioneural o el músculo (AU)

Hypotonia is understood to refer to a pronounced decrease in muscle tone that affects normal motor development and that may affect the axial muscles as well as those of the limbs and, sometimes, the face. It is a very challenging clinical picture because it consists in a fairly wide range of conditions that affect different areas of the central and peripheral nervous system and may be the expression of pathologies that can be either benign or of an uncertain prognosis. These cover myopathies, metabolic disorders, diseases based on genetic causes, pathologies affecting the endocrine glands and progressive or chronic diseases, among other aetiologies. The important development of medicine today has made a number of tools available to the examiner with which to refine or pronounce a diagnosis. Such instruments include the developments achieved in genetic research, together with studies conducted in imaging and optical and electronic microscopy. However, in spite of having all this material available for use, it is still the clinical features that allow a rational use to be made of these advances to be able to point towards the possible causation, topographic location and developmental control. It is useful, for the diagnostic approach and the use of auxiliary methods, to know the topographic location of the disorder, whether it is situated in the brain, the cerebellum, the stem, the spinal cord, the peripheral nerves, the myoneural junction or the muscle (AU)

[Hypotonic syndrome in the newborn infant]. / Síndrome hipotónico del lactante.

Hypotonia is understood to refer to a pronounced decrease in muscle tone that affects normal motor development and that may affect the axial muscles as well as those of the limbs and, sometimes, the face. It is a very challenging clinical picture because it consists in a fairly wide range of conditions that affect different areas of the central and peripheral nervous system and may be the expression of pathologies that can be either benign or of an uncertain prognosis. These cover myopathies, metabolic disorders, diseases based on genetic causes, pathologies affecting the endocrine glands and progressive or chronic diseases, among other aetiologies. The important development of medicine today has made a number of tools available to the examiner with which to refine or pronounce a diagnosis. Such instruments include the developments achieved in genetic research, together with studies conducted in imaging and optical and electronic microscopy. However, in spite of having all this material available for use, it is still the clinical features that allow a rational use to be made of these advances to be able to point towards the possible causation, topographic location and developmental control. It is useful, for the diagnostic approach and the use of auxiliary methods, to know the topographic location of the disorder, whether it is situated in the brain, the cerebellum, the stem, the spinal cord, the peripheral nerves, the myoneural junction or the muscle.

TITLE: Sindrome hipotonico del lactante.Entendemos como hipotonia la disminucion acentuada del tono muscular que afecta al desarrollo motor normal y que puede afectar a la musculatura axial y de los miembros y, en ocasiones, a la facial. Es un cuadro que genera un gran desafio ya que, en su universo, comprende una serie bastante amplia de condiciones que afectan a distintas areas del sistema nervioso, tanto central como periferico, y que pueden ser expresion de patologias de corte benigno o de pronostico reservado. Abarcan miopatias, alteraciones metabolicas, enfermedades de corte genetico, endocrinopatias y enfermedades progresivas o cronicas, entre otras causas. El gran desarrollo de la medicina actual ha logrado poner a disposicion del examinador multiples herramientas que permiten afinar o aseverar el diagnostico, entre las que destacan los desarrollos logrados en las investigaciones geneticas, asi como los estudios de imagenes y de microscopia optica y electronica. Sin embargo, pese a toda esta oferta, sigue siendo la clinica la que permite usar racionalmente estos avances y orientar hacia la posible etiologia, localizacion topografica y control evolutivo. Es de utilidad, para el enfoque diagnostico y la utilizacion de metodos auxiliares, que la localizacion topografica de la afectacion ya este esta ubicada en el cerebro, el cerebelo, el tallo, la medula, los nervios perifericos, la union mioneural o el musculo.

¿Es el síndrome de apnea-hipoanea durante el sueño (SAHS) un factor de riesgo de enfermedad neurodegenerativa en el trastorno de conducta en sueño REM (RBD)? / No disponible

Introducción: Estudios epidemiológicos han observado una elevada prevalencia del RBD y SAHS en el anciano. El RBD se clasifica como idiopático y asociado a enfermedades neurodegenerativas. La presencia de SAHS en el RBD es frecuente (34-61 %), aunque parece que su gravedad es menor. Iranzo y Santamaría identificaron un subgrupo de pacientes con “pseudo-RBD”, que eran pacientes con SAHS severo exclusivamente. Objetivo: Determinar la prevalencia de SAHS en una muestra de pacientes que cumplen criterios clínicos y vídeo-PSG de RBD y cuantificar el riesgo de desarrollar una enfermedad neurodegenerativa. Material y métodos: 38 pacientes con diagnóstico de RBD y seguimiento durante varios años. Se observó que un 41,2% desarrollaron procesos neurodegenerativos. El diagnóstico de RBD y SAHS se realizó mediante vídeo-PSG. La cobertura estadística: 89,5% (34/38). El 68,4% hombres con edad media de 62,9 años. La prevalencia de SAHS fue del 64,7 %, del 55% en el grupo RBD idiopático frente al 78,5% en el grupo que desarrolló una enfermedad neurodegenerativa. Para llevar a cabo el análisis de los paciente se realizó un estudio observacional, cohorte. La implicación del SAHS se estudió mediante el Riesgo Relativo (RR). Definición de caso: persona con diagnóstico de RBD y SAHS que desarrolla una enfermedad neurodegenerativa. Resultados: Se obtuvo un RR del 2, con un IC del 95% (0,69-5,75), estadísticamente no significativo. Discusión y Conclusiones: En nuestra muestra se demostró una prevalencia y características del RBD congruentes con la literatura. La investigación no permitió demostrar una asociación estadísticamente significativa (AU)

Introduction: Epidemiological studies have observed a high prevalence of RBD and SAHS among the elderly. RBD qualifies as idiophatic and is associated with neurodegenerative diseases. Presence of SAHS in RBD is frequent (34-61 %), though it seems that its seriousness is minor. Iranzo and Santamaría identified a patient’s subgroup with "pseudo-RBD", who exclusively had severe SAHS. Our goal is to determine SAHS prevalence in a patients sample that meet the clinical criteria and RBD video-PSG, and on the other hand to quantify the risk of developing a neurodegenerative disease. Material and methods: 38 patients with RBD diagnosis and follow-up during a few years.We observed that 41.2% developed neurodegenerative diseases. Diagnosis of RBD and SAHS was performed by video-PSG. Statistical coverage: 89.5% (34/38). 68.4% men with mean age of 62.9 years. SAHS prevalence was 64.7 %, 55% for RBD idiophatic group, against 78.5% for the group that developed a neurodegenerative disease. To carry out the analysis, an observational cohort study was performed. Implication of SAHS was analyzed by means of Relative Risk (RR). Definition of case: it presents with diagnosis of RBD and SAHS that develops a neurodegenerative disease. Results: RR of 2 was obtained, with an IC of 95% (0.69-5.75), statistically not significant. Discussion and Conclusions:In our sample, RBD prevalence and characteristics were consistent with literature. Research did not allow proving a statistically significant association (AU)

Rasagilina en monoterapia en pacientes en fases tempranas de la enfermedad de Parkinson y en terapia combinada y coadyuvante a levodopa en fases moderada y avanzada / Rasagiline in monotherapy in patients with early stages of Parkinson’s disease and in combined and adjunct therapy to levodopa with moderate and advanced stages

La rasagilina ha sido efectiva en las fases iniciales de la enfermedad de Parkinson y en dosis de 1 mg ha mostrado un posible efecto modificador de la progresión de la enfermedad. El correcto manejo de los fármacos dopaminérgicos ha demostrado retrasar la aparición de las fluctuaciones motoras y las discinesias en la enfermedad de Parkinson. El uso combinado de fármacos con una estimulación dopaminérgica más prolongada (rasagilina, agonistas dopaminérgicos) no sólo ejerce un beneficio al disminuir la estimulación dopaminérgica pulsátil de los receptores dopaminérgicos estriatales, sino que permite disminuir los requerimientos totales de levodopa diarios. Su adición al resto de fármacos dopaminérgicos ha demostrado ser tan eficaz como la entacapona para disminuir la frecuencia y gravedad de las fluctuaciones motoras. Asimismo, se ha observado que iniciar de manera más precoz el tratamiento con rasagilina se asocia a un retraso en la necesidad de utilizar otros fármacos dopaminérgicos, lo que indica que el efecto motor sintomático de la rasagilina se mantiene en el tiempo y no se limita a las fases iniciales de la enfermedad (AU)

Rasagiline is effective in the early stages of the disease and has shown a possible effect of modifying disease progression at a dose of 1 mg. The accurate management of dopaminergic drugs in Parkinson’s disease is able to delay the appearance of motor fluctuations and dyskinesias. The combination of different drugs that provide a more continuous dopaminergic stimulation (rasagiline, dopamine agonists) not only exerts a benefit through diminishing the impact of pulsatile stimulation on post-synaptic dopamine receptors, but allows to decrease total daily levodopa requirements. The combination of rasagiline with other dopaminergic drugs has demonstrated to be as efficacious as entacapone for improving both the frequency and severity of motor fluctuations. Likewise, new evidences have shown that the earlier introduction of rasagiline is associated with a delay in introducing other dopaminergic drugs, thus indicating that the symptomatic benefit of rasagiline on daily motor function is not only present in the early Parkinson’s disease stages, but is maintained over time (AU)

[Clinical and therapeutic aspects in Tunisian patients with dystonia: a 5-year prospective study]. / Aspects cliniques et thérapeutiques des dystonies en Tunisie : étude prospective sur cinq ans.

INTRODUCTION: Studies of dystonia are heterogeneous and there are no studies on this disease in Tunisia. The aim of our study was to determine the frequency of dystonia in the hospital population, to identify different forms of dystonia according to age of onset, distribution, to determine etiologies and to describe treatment. METHODS: We conducted a prospective study over a 5-year period (from January 2005 to November 2009) including all patients diagnosed with dystonia and followed at the Child and Adolescent Neurology Department and "Movement Disorders and Botulinum Toxin" consultation of the National Institute of Neurology of Tunis. RESULTS: Two hundred patients were included (2.2% of our patients). Mean age was 26.4±21.4 years and sex ratio H:F 1.3. Consanguinity rate was 29%. Main features of dystonia were action dystonia (78.5%), generalized forms (47%) and secondary forms (58%). A pyramidal syndrome and other movement disorders were the most common signs associated with dystonia (36.5% and 33.5% respectively). In the group of secondary dystonia, mains etiologies were dystonia due to exogenic agent (56%), neuro-metabolic diseases (26%), hereditary degenerative disease (13%) and psychogenic dystonia (5%). Dystonia was primary in 44% (84 patients). Different treatments were used and a dramatic improvement in some patients was noted with levodopa and botulinum toxin injections. A multidisciplinary approach associated with medical treatment led to recovery or improved prognosis. DISCUSSION AND CONCLUSION: Very few studies have been devoted to reporting a large series of dystonic patients. Our study is the first to describe both primary and secondary dystonia in 200 Tunisian patients. The presence of familial dystonia in our country suggests a genetic origin. Further work including genetic analysis with a screening of known mutations responsible for dystonia and the informative families with unknown mutations would be useful. Specific studies designed to identify new genes causal in dystonia are needed.

Esclerosis lateral amiotrófica: un diagnóstico incierto / Amyotrophic lateral sclerosis: an uncertain diagnosis

La esclerosis lateral amiotrófica es una enfermedad neurológica inexorablemente progresiva, que afecta a las neuronas que controlan los músculos voluntarios. Su prevalencia es de 3–6/100.000 personas. El diagnóstico en estadios precoces de la enfermedad resulta a menudo dificultoso. Se presenta un caso de esclerosis lateral amiotrófica de comienzo insidioso y enmascarado por enfermedades concomitantes (depresión tras viudedad, obesidad mórbida y problemas de movilidad) que retrasaron el diagnóstico tres años, momento en el que ya existía un estado avanzado de la enfermedad (AU)

Amyotrophic lateral sclerosis (ALS) is an inexorably progressive neurological disease that affects the neurons that control the voluntary muscles. It has an approximate prevalence of 3–6/100,000 persons. Diagnosing it in the early stages of the disease is often difficult. We present a case of ALS that had an insidious and masked onset due to concomitant diseases (depression after being widowed, morbid obesity, morbidity problems) that delayed its diagnosis by three years, when the disease was already in an advanced stage (AU)

Slowly progressive encephalopathy with hearing loss due to a mutation in the mtDNA tRNA(Leu(CUN)) gene.

Pathogenic mutations in the tRNA(Leu(UCN)) gene of mitochondrial DNA (mtDNA) have been invariably accompanied by skeletal myopathy with or without chronic progressive external ophthalmoplegia (CPEO). We report a young woman with a heteroplasmic m.12276G>A mutation in tRNA(Leu(UCN)), who had childhood-onset and slowly progressive encephalopathy with ataxia, cognitive impairment, and hearing loss. Sequencing of the 22 tRNA mitochondrial genes is indicated in all unusual neurological syndromes, even in the absence of maternal inheritance.