Distúrbios do movimento como manifestações das paraplegias espásticas hereditárias: uma revisão sistemática

Abstract

Hereditary spastic paraplegias (HSP) are a group of genetically heterogeneous diseases characterized by progressive degeneration of the corticospinal tracts. They are clinically differentiated into pure forms, in which the manifestations are restricted to the presence of spasticity and paresis of the lower limbs, with eventual involvement of bladder control and hypopalesthesia, and in complex forms, in which other neurological and clinical signs and symptoms are present. Among these additional manifestations are movement disorders (MD), which occur due to the involvement of the motor system, with involvement of the extrapyramidal and cerebellar systems. The genetic and phenotypic heterogeneity of HSPs contributes to make their diagnosis difficult. Recognizing the main clinical manifestations associated with the complex phenotype of HSP is critical for clinical suspicion. Although useful, classifications based on mode of inheritance and clinical distinctions between pure and complex forms remain confusing to the neurologist. Thus, it may be interesting to reconsider the practical approach and the semiological classification of this disorder by focusing on clinical phenotypes. Numerous publications of case reports and case series linking new neurological and non-neurological manifestations to the phenotype of HSP have been published, but MD, except ataxia, have never been the main subject of discussion in a review. Considering the prevalence of movement disorders in patients with HSP, a Systematic Review on the subject is of great relevance. The present study aimed to carry out a Systematic Review of the literature with the purpose of describing the forms of MD described as a manifestation of HSP. We carried out a systematic search in the literature published in the five electronic databases, PubMed, Embase, Scopus, SciElo and LILACS, which were accessed between September/2020 and January/2021. Search limits were set to include only english-language articles published in peer-reviewed journals during any period. The review considered in the end 93 articles describing 150 patients with HSP and MD for analysis. Most of these cases had disease with autosomal recessive inheritance (85.3%), and 19.3% of them had MD as an initial manifestation. Various forms of dystonia, tremor, parkinsonism, dyskinesias, chorea, and myoclonias were described as clinical presentations of HSP, with dystonia being the most frequent problem (35% of cases). There are cases of parkinsonism, dystonia and tremors described with good response to levodopa. Most of the cases presented alterations in neuroimaging exams that have already been associated with HSP. It was not possible to associate any genetic type of HSP to a specific clinical presentation of MD.