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1.
J Neuropsychiatry Clin Neurosci ; 32(1): 67-72, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-31564234

RESUMO

OBJECTIVE: The purpose of this study was to determine whether patients with functional movement disorders (FMDs) differ in their internal versus external locus of control (LOC) and whether LOC in these patients affected disease severity, quality of life, and functional impairment compared with control subjects with degenerative (Parkinson's disease) and nondegenerative (focal dystonia) neurological conditions. METHODS: A total of 156 patients with FMD (N=45), Parkinson's disease (N=64), and focal dystonia (N=47) were recruited between June 2015 and August 2017. The authors administered the general Levenson Multidimensional LOC (LOC-G) and health-specific Multidimensional Health LOC (LOC-H) scales. An internal LOC was represented similarly in both scales: the external LOC included "chance" and "powerful others" in the LOC-G measure and chance, "other people," and "doctors" in the LOC-H measure. Quality of life, functional impairment, and FMD severity were assessed. One-way analysis of variance and adjusted logistic regressions were used, as well as ordinary least-squares between and within groups, respectively. RESULTS: Patients with FMD had lower external chance LOC-G scores compared with patients in the Parkinson's disease group (odds ratio=0.90, p=0.03) and higher internal (odds ratio=1.22, p=0.01) and lower external (odds ratio=0.77, p=0.02) doctors LOC-H scores compared with patients in the focal dystonia group. External powerful others LOC-G score was associated with functional impairment (regression coefficient=-0.04, p=0.02). There were no effects of LOC on quality of life or disease severity. CONCLUSIONS: Patients with FMD exhibited high "within our control" internal general and health-specific frame of reference. LOC had no influence on quality of life or disease severity in this patient population.


Assuntos
Transtorno Conversivo/psicologia , Distúrbios Distônicos/psicologia , Controle Interno-Externo , Transtornos dos Movimentos/psicologia , Doença de Parkinson/psicologia , Transtornos Psicofisiológicos/psicologia , Adulto , Idoso , Transtorno Conversivo/fisiopatologia , Estudos Transversais , Distúrbios Distônicos/fisiopatologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Transtornos dos Movimentos/fisiopatologia , Doença de Parkinson/fisiopatologia , Transtornos Psicofisiológicos/fisiopatologia , Qualidade de Vida , Índice de Gravidade de Doença
2.
Artigo em Inglês | MEDLINE | ID: mdl-31871824

RESUMO

Background: Movement disorders are frequent features of prionopathies. However, their prevalence and onset remain poorly described. Methods: We performed a systematic review of case reports and case series of pathologically- and genetically confirmed prionopathies. Timing of symptom and movement disorder onset were documented. Continuous variables were compared between two groups using the Wilcoxon rank sum test and between multiple groups using Kruskal-Wallis test. Categorical variables were compared using Fisher's exact test. Results: A total of 324 cases were included in this analysis. Movement disorders were a common feature at the onset of symptoms in most prionopathies. Gait ataxia was present in more than half of cases in all types of prionopathies. The prevalence of limb ataxia (20%) and myoclonus (24%) was lower in Gerstmann-Sträussler-Scheinker disease compared to other prionopathies (p ≤ 0.004). Myoclonus was common but often a later feature in sporadic Creutzfeldt-Jakob disease (2 months before death). Chorea was uncommon but disproportionately prevalent in variant Creutzfeldt-Jakob disease (30% of cases; p < 0.001). In genetic Creutzfeldt-Jakob disease, E200K PRNP carriers exhibited gait and limb ataxia more often when compared to other mutation carriers. Discussion: Movement disorders are differentially present in the course of the various prionopathies. The movement phenomenology and appearance are associated with the type of prion disease and the PRNP genotype and likely reflect the underlying pattern of neurodegeneration. Reliance on myoclonus as a diagnostic feature of sporadic Creutzfeldt-Jakob disease may delay its recognition given its relatively late appearance in the disease course.


Assuntos
Transtornos dos Movimentos/complicações , Transtornos dos Movimentos/diagnóstico , Doenças Priônicas/complicações , Doenças Priônicas/diagnóstico , Humanos , Transtornos dos Movimentos/genética , Mutação/genética , Mioclonia/complicações , Mioclonia/diagnóstico , Mioclonia/genética , Doenças Priônicas/genética
3.
Parkinsonism Relat Disord ; 53: 10-20, 2018 08.
Artigo em Inglês | MEDLINE | ID: mdl-29853295

RESUMO

Diseases with a choreic phenotype can be due to a variety of genetic etiologies. As testing for Huntington's disease (HD) becomes more available in previously resource-limited regions, it is becoming apparent that there are patients in these areas with other rare genetic conditions which cause an HD-like phenotype. Documentation of the presence of these conditions is important in order to provide appropriate diagnostic and clinical care for these populations. Information for this article was gathered in two ways; the literature was surveyed for publications reporting a variety of genetic choreic disorders, and movement disorders specialists from countries in Latin America and the Caribbean were contacted regarding their experiences with chorea of genetic etiology. Here we discuss the availability of molecular diagnostics for HD and for other choreic disorders, along with a summary of the published reports of affected subjects, and authors' personal experiences from the regions. While rare, patients affected by non-HD genetic choreas are evidently present in Latin America and the Caribbean. HD-like 2 is particularly prevalent in countries where the population has African ancestry. The incidence of other conditions is likely determined by other variations in ethnic background and settlement patterns. As genetic resources and awareness of these disorders improve, more patients are likely to be identified, and have the potential to benefit from education, support, and ultimately molecular therapies.


Assuntos
Coreia/epidemiologia , Transtornos Cognitivos/epidemiologia , Demência/epidemiologia , Transtornos Heredodegenerativos do Sistema Nervoso/epidemiologia , Doença de Huntington/epidemiologia , Neuroacantocitose/epidemiologia , Ataxias Espinocerebelares/epidemiologia , Região do Caribe/epidemiologia , Coreia/genética , Transtornos Cognitivos/genética , Demência/genética , Transtornos Heredodegenerativos do Sistema Nervoso/genética , Humanos , Doença de Huntington/genética , América Latina/epidemiologia , Neuroacantocitose/genética , Ataxias Espinocerebelares/genética
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