Neuropsychomotor manifestations of juvenile Huntington’s disease

signs and symptoms and imaging findings

Abstract

Juvenile Huntington’s disease consists of neurodegeneration of nerve cells caused by the formation of the altered protein called huntingtin, accumulated in the cytoplasm and nucleus of neurons, capable of generating progressive death of these cells more clearly in the striatum, which includes the nuclei caudate and putamen. The juvenile variant of Huntington’s disease manifests in patients aged 0 to 20 years, with a variety of motor, cognitive and behavioral disorders. In order to study the most prevalent signs, symptoms and imaging findings, as well as the initial manifestations and the symptomatic evolution during the course of the disease, an integrative literature review was carried out, including a total of 25 articles selected after the adequacy of criteria exclusion and inclusion. After analyzing the data, it was concluded that the most prominent symptoms were muscle stiffness, dysarthria, seizures, bradykinesia and cognitive and behavioral dysfunctions. In terms of imaging findings, atrophy of nuclei of the base and cerebellum prevailed in patients with the most advanced disease and diagnosed in greater time.