ABSTRACT
Apuntes en Neurología' es una iniciativa en la cual líderes de primera línea nacional e internacional, con amplio reconocimiento académico, se reunieron para sintetizar los aspectos clínicos más destacables dentro de su área de interés y acercar las novedades en una lengua más próxima. Entender los factores que afectan al inicio y progresión de cualquier enfermedad neurológica a través de una revisión es importante para el desarrollo de estrategias en pro de reducir la carga de estas enfermedades, y conocer los aspectos clínicos es esencial para poder resolver los problemas de la practica clínica diaria. Los datos aquí recogidos reflejan el peso de la evidencia y algunos de ellos anticipan un futuro prometedor en el tratamiento de estas enfermedades. Esta primera edición se centra en trastornos neurológicos comunes paroxísticos como la migraña, la epilepsia y las alteraciones del sueño, y en trastornos neurodegenerativos como la enfermedad de Parkinson y el deterioro cognitivo. Se trata de patologías claramente diferentes, si bien algunas de ellas, como la migraña y la epilepsia, pueden compartir sintomatología clínica. Los trastornos del sueño, por su parte, son manifestaciones importantes de enfermedades neurodegenerativas que, en ocasiones, son clínicamente evidentes mucho antes del inicio de otros síntomas neurológicos. Tras recordar la fisiopatología y el diagnostico, la revisión actual se centra en acercar los principales avances en cinco de las principales enfermedades neurológicas
Introduction. 'Apuntes en Neurologia' is an initiative in which prominent national and international leaders, with broad academic recognition, came together to synthesise the most outstanding clinical aspects within their area of interest and to discuss the latest developments in a more accessible language. Understanding the factors that affect the onset and progression of any neurological disease through a review is important to be able to develop strategies to reduce the burden of these diseases. Moreover, knowledge of the clinical aspects is essential to solve the problems of daily clinical practice. The data collected here reflect the weight of evidence and some of them anticipate a promising future in the treatment of these diseases. This first edition focuses on common paroxysmal neurological disorders such as migraine, epilepsy and sleep disorders, as well as neurodegenerative disorders such as Parkinson' disease and cognitive impairment. These are clearly different pathologies, although some of them such as migraine and epilepsy, may share clinical symptoms. Sleep disorders, however, are important manifestations of neurodegenerative diseases that are sometimes clinically apparent long before the onset of other neurological symptoms. After recalling pathophysiology and diagnosis, the current review focuses on bringing together the main advances in five of the major neurological diseases
Subject(s)
Humans , Dementia/diagnosis , Dementia/therapy , Epilepsy/diagnosis , Epilepsy/therapy , Migraine Disorders/therapy , Neurodegenerative Diseases/diagnosis , Neurodegenerative Diseases/therapy , Parkinson Disease , Sleep Wake Disorders/diagnosis , Evidence-Based Medicine , Parkinson Disease/diagnosis , Parkinson Disease/physiopathology , Parkinson Disease/therapyABSTRACT
Altered mitochondrial function is characteristic in the substantia nigra in Parkinson's disease (PD). Information about mitochondria in other brain regions such as the cerebral cortex is conflicting mainly because most studies have not contemplated the possibility of variable involvement depending on the region, stage of disease progression and clinical symptoms such as the presence or absence of dementia. RT-qPCR of 18 nuclear mRNAs encoding subunits of mitochondrial complexes and 12 mRNAs encoding energy metabolism-related enzymes; western blotting of mitochondrial proteins; and analysis of enzymatic activities of complexes I, II, II, IV and V of the respiratory chain were assessed in frontal cortex area 8 and the angular gyrus of middle-aged individuals (MA), and those with incidental PD (iPD), long-lasting PD with parkinsonism without dementia (PD) and long-lasting PD with dementia (PDD). Up-regulation of several genes was found in frontal cortex area 8 in PD when compared with MA and in the angular gyrus in iPD when compared with MA. Marked down-regulation of genes encoding mitochondrial subunits and energy metabolism-related enzymes occurs in frontal cortex but only of genes coding for energy metabolism-related enzymes in the angular gyrus in PDD. Significant decrease in the protein expression levels of several mitochondrial subunits encoded by these genes occurs in frontal cortex area 8 and angular gyrus in PDD. Moreover, expression of MT-ND1 which is encoded by mitochondrial DNA is also reduced in PDD. Reduced enzymatic activity of complex III in frontal cortex area 8 and angular gyrus is observed in PD, but dramatic reduction in the activity of complexes I, II, II and IV in both regions characterizes PDD. Dementia in the context of PD is linked to region-specific deregulation of genomic genes encoding subunits of mitochondrial complexes and to marked reduction in the activity of mitochondrial complexes I, II, III and IV.
