Non-motor symptom burden in patients with Parkinson's disease with impulse control disorders and compulsive behaviours: results from the COPPADIS cohort.

The study was aimed at analysing the frequency of impulse control disorders (ICDs) and compulsive behaviours (CBs) in patients with Parkinson's disease (PD) and in control subjects (CS) as well as the relationship between ICDs/CBs and motor, nonmotor features and dopaminergic treatment in PD patients. Data came from COPPADIS-2015, an observational, descriptive, nationwide (Spain) study. We used the validated Questionnaire for Impulsive-Compulsive Disorders in Parkinson's Disease-Rating Scale (QUIP-RS) for ICD/CB screening. The association between demographic data and ICDs/CBs was analyzed in both groups. In PD, this relationship was evaluated using clinical features and treatment-related data. As result, 613 PD patients (mean age 62.47 ± 9.09 years, 59.87% men) and 179 CS (mean age 60.84 ± 8.33 years, 47.48% men) were included. ICDs and CBs were more frequent in PD (ICDs 12.7% vs. 1.6%, p < 0.001; CBs 7.18% vs. 1.67%, p = 0.01). PD patients had more frequent previous ICDs history, premorbid impulsive personality and antidepressant treatment (p < 0.05) compared with CS. In PD, patients with ICDs/CBs presented younger age at disease onset, more frequent history of previous ICDs and premorbid personality (p < 0.05), as well as higher comorbidity with nonmotor symptoms, including depression and poor quality of life. Treatment with dopamine agonists increased the risk of ICDs/CBs, being dose dependent (p < 0.05). As conclusions, ICDs and CBs were more frequent in patients with PD than in CS. More nonmotor symptoms were present in patients with PD who had ICDs/CBs compared with those without. Dopamine agonists have a prominent effect on ICDs/CBs, which could be influenced by dose.

Neurodegeneración con acúmulo cerebral de hierro / Neurodegeneration with brain iron accumulation

Introducción. Las alteraciones en el metabolismo del hierro se han relacionado con diversas enfermedades neurodegenerativas, en algunas de ellas se trata del principal elemento de la enfermedad mientras que en otras, como la enfermedad de Alzheimer o Parkinson, se ha descrito su alteración pero no se conoce su significado fisiopatológico exacto. Objetivo. Revisión bibliográfica sobre el conocimiento actual de las enfermedades que cursan con depósitos encefálicos de hierro. Desarrollo. Se denomina neurodegeneración asociada a depósito de hierro (NAEH), a un grupo heterogéneo de enfermedades hereditarias (la mayor parte de ellas autosómicas recesivas) que cursan con depósitos de hierro en determinadas áreas cerebrales. La causa más frecuente es la mutación en el gen PANK2, recibiendo el nombre de Neurodegeneración asociada a Pantotenatocinasa (NAPC). La descripción inicial corresponde al síndrome de Hallervorden-Spatz. El cuadro clínico incluye manifestaciones motoras y deterioro psicomotor con una evolución progresiva hasta la incapacidad y fallecimiento del paciente. La resonancia magnética muestra alteraciones características afectando fundamentalmente al globo pálido. También se incluyen dentro de la NAEH la Neuroferritinopatia, la aceruloplasminemia y algunas formas asociadas a mutaciones en el gen PLA2G6, enfermedades que comparten algunas características clínicas y la presencia de alteraciones en la RM aunque con diferencias entre ellas. Conclusiones. El conocimiento de las distintas alteraciones genéticas ha permitido una mejor clasificación nosológica de la NAEH. Tanto la clínica como el patrón de alteraciones en RM pueden resultar de utilidad en el diagnóstico. Por el momento no se dispone de tratamientos que modifiquen el curso de la enfermedad (AU)

Introduction. Alterations in iron metabolism have been related with several neurodegenerative diseases. In some cases it is the main element of the disease while in others, such as Alzheimer's or Parkinson’s disease, its alteration has been reported but its exact pathophysiological significance remains unknown. Aims. The aim of the study was to carry out a review of the literature on the current knowledge about diseases that are accompanied by deposits of iron in the brain. Development. The term neurodegeneration with brain iron accumulation (NBIA) is used to refer to a heterogeneous group of hereditary (mostly autosomal recessive) diseases that are accompanied by deposits of iron in certain areas of the brain. The most frequent cause is a mutation in the PANK2 gene, which is called Pantothenate Kinase-Associated Neurodegeneration (PKAN). The initial description corresponds to Hallervorden-Spatz syndrome. The clinical picture includes motor manifestations and psychomotor deterioration with a progressive development until disability and the death of the patient. Magnetic resonance imaging shows characteristic alterations mainly involving the globus pallidus. NBIA also includes neuroferritinopathy, aceruloplasminemia and some forms associated to mutations in the PLA2G6 gene, diseases that share certain clinical characteristics, and the presence of alterations in the MRI scan, although there are differences from one to another. Conclusions. Understanding the different genetic alterations has made it possible to achieve a better nosological classification of NBIA. Both the clinical features and the pattern of alterations in MRI can be useful in the diagnosis. For the time being there are no treatments that modify the course of the disease (AU)

Abordaje práctico de las discinesias en la enfermedad de Parkinson / Practical treatment of dyskinesias in Parkinson's disease

El tratamiento en la Enfermedad de Parkinson (EP) supone una clara mejoría de los síntomas pero con el paso del tiempo es frecuente el desarrollo de complicaciones motoras, entre ellas se incluyen las discinesias, consistentes en movimientos involuntarios estereotipados. Existen distintos tipos de discinesias, entre las que destacan: las discinesias de beneficio, la distonía "off" y las discinesias bifásicas. Las distintas variantes clínicas presentan características semiológicas diferentes, siendo su fisiopatología objeto de debate y teniendo un manejo también diferencial. Desde el inicio del tratamiento de la EP debe valorarse el riesgo del paciente para desarrollar discinesias, ya que el uso de agonistas dopaminérgicos como tratamiento inicial puede retrasar su aparición. Las estrategias terapéuticas existentes pretenden evitar la pulsatilidad del estímulo dopaminérgico. En el caso de la distonía "off" el objetivo fundamental es disminuir el tiempo "off". En el tratamiento de las discinesias de beneficio son útiles los ajustes en los fármacos dopaminérgicos y el uso de los pocos fármacos disponibles con eficacia antidiscinética, fundamentalmente amantadina y clozapina. Las infusiones, tanto de apomorfina como de LD intraduodenal, permiten un estimulo más estable y por tanto son útiles en el tratamiento de las discinesias. En aquellos pacientes con discinesias graves la cirugía funcional tanto palidal como subtalámica resulta un tratamiento altamente eficaz. El mejor uso de los distintos fármacos disponibles ha permitido la disminución en la frecuencia de aparición de discinesias graves, así como un mejor manejo cuando éstas se presentan, mejorando la calidad de vida de estos pacientes (AU)

The treatment administered in Parkinson's disease (PD) clearly improves the symptoms but as time goes by the patient often develops motor complications, including dyskinesias, which consist in stereotypic involuntary movements. There are different types of dyskinesias, the most significant being peak-dose dyskinesias, off-period dystonia and diphasic dyskinesias. The different clinical variants present distinct semiological characteristics, their pathophysiology is the subject of debate and they also require differential management. From the beginning of the treatment of PD it is necessary to appraise the risk of the patient's developing dyskinesias, since the use of dopamine agonists as the initial treatment can delay their appearance. The existing therapeutic strategies aim to prevent the pulsatility of the dopaminergic stimulus. In the case of off-period dystonia, the main aim is to reduce the "off" time. In the treatment of peak-dose dyskinesias it is useful to adjust the dopaminergic drugs and to use the few drugs available with proven effectiveness as anti-dyskinesic agents, which are mainly amantadine and clozapine. Both apomorphine and intraduodenal LD infusions allow for a more stable stimulus and are therefore useful in the treatment of dyskinesias. In patients with severe dyskinesias, treatment by means of both pallidal and subthalamic functional surgery is highly effective. The better use of the different drugs that are currently available has made it possible to reduce the frequency of appearance of severe dyskinesias and to improve their management when they do appear, thereby raising the quality of life of these patients (AU)