RESUMO
Perry syndrome (PS) is a rare hereditary neurodegenerative disease characterized by autosomal dominant parkinsonism, psychiatric symptoms, weight loss, central hypoventilation, and distinct TDP-43 pathology. The mutated causative gene for PS is DCTN1, which encodes the dynactin subunit p150Glued. Dynactin is a motor protein involved in axonal transport; the p150Glued subunit has a critical role in the overall function. Since the discovery of DCTN1 in PS, it has been increasingly recognized that DCTN1 mutations can exhibit more diverse phenotypes than previously thought. Progressive supranuclear palsy- and/or frontotemporal dementia-like phenotypes have been associated with the PS phenotypes. In addition, DCTN1 mutations were identified in a family with motor-neuron disease before the discovery in PS. In this review, we analyze the clinical and genetic aspects of DCTN1-related neurodegeneration and discuss its pathogenesis. We also describe three families with PS, Canadian, Polish, and Brazilian. DCTN1 mutation was newly identified in two of them, the Canadian and Polish families. The Canadian family was first described in late 1970's but was never genetically tested. We recently had the opportunity to evaluate this family and to test the gene status of an affected family member. The Polish family is newly identified and is the first PS family in Poland. Although still rare, DCTN1-related neurodegeneration needs to be considered in a differential diagnosis of parkinsonian disorders, frontotemporal dementia, and motor-neuron diseases, especially if there is family history.
Assuntos
Complexo Dinactina/genética , Hipoventilação/genética , Mutação/genética , Doenças Neurodegenerativas/genética , Transtornos Parkinsonianos/genética , Brasil , Canadá , Depressão/genética , Depressão/patologia , Saúde da Família , Feminino , Predisposição Genética para Doença , Humanos , Hipoventilação/patologia , Masculino , Transtornos Parkinsonianos/patologia , Fenótipo , PolôniaRESUMO
Se presenta el caso de una ni±a de un a±o y 5 meses con el Síndrome de Hipoventilación Central Congénita, trastorno raro que consiste en una alteración del sistema nervioso central en la cual el control autónomo de la respiración esta ausente o disminuido y se manifiesta por apnea prolongada, cianosis e hipoventilación. La paciente esta conectada a un ventilador mecßnico desde su nacimiento, para mantener una p02 mayor que 9S y un pC02 menor que 3S. Se han descartado enfermedades infecciosas, metabólicas, neuromusculares, pulmonares que expliquen el cuadro. Ella requiere de un marcapaso diafragmßtico para mejorar su calidad de vida durante el día, en la noche debe continuar con ventilación mecßnica. Se presenta el caso por seruna patología rara.
We present a case of a baby of a year and five months with the Syndrome of Congenital Central Hipoventilación, rare upheaval that it consists of an alteration of the central nervous system in which the independent of the breathing this absentee or diminished control and it is pronounced by prolonged apnea, cyanosis and hypoventilation. The patient this connected to a mechanical ventilator from its birth, to maintain one p02 mayor que 9S and pC02 menor que 35. Infectious, metabolic diseases, neuromusculares, pulmonary have discarded, that explain the picture. It requires of pacing diafragmßtico to improve her quality of life during the day, since at night she must continue with mechanical ventilation.