Is Ataxia an Underestimated Symptom of Huntington's Disease?

Autor:	Franklin GL; Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de clínicas, Federal University of Paraná, Curitiba, Brazil., Camargo CHF; Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de clínicas, Federal University of Paraná, Curitiba, Brazil., Meira AT; Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de clínicas, Federal University of Paraná, Curitiba, Brazil., Pavanelli GM; Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de clínicas, Federal University of Paraná, Curitiba, Brazil., Milano SS; Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de clínicas, Federal University of Paraná, Curitiba, Brazil., Germiniani FB; Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de clínicas, Federal University of Paraná, Curitiba, Brazil., Lima NSC; Faculdade de Medicina, Universidade de Vila Velha, Espirito Santo, Brazil., Raskin S; Genetika - Centro de Aconselhamento e Laboratório de Genética, Curitiba, Brazil., Barsottini OGP; Division of General Neurology and Ataxia Unit, Department of Neurology, Federal University of São Paulo - UNIFESP, São Paulo, Brazil., Pedroso JL; Division of General Neurology and Ataxia Unit, Department of Neurology, Federal University of São Paulo - UNIFESP, São Paulo, Brazil., Maggi FA; Division of General Neurology and Ataxia Unit, Department of Neurology, Federal University of São Paulo - UNIFESP, São Paulo, Brazil., Tumas V; Movement Disorders and Behavioral Neurology Section, Ribeirão Preto Medical School, São Paulo University, Ribeirão Preto, Brazil., de Carvalho PM; Movement Disorders and Behavioral Neurology Section, Ribeirão Preto Medical School, São Paulo University, Ribeirão Preto, Brazil., de Oliveira AC; Departments of Neurology and Medical Genetics, School of Medical Sciences, State University of Campinas, Campinas, Brazil., Braga B; Departments of Neurology and Medical Genetics, School of Medical Sciences, State University of Campinas, Campinas, Brazil., Souza LC; Departments of Neurology and Medical Genetics, School of Medical Sciences, State University of Campinas, Campinas, Brazil., Guimarães RP; Departments of Neurology and Medical Genetics, School of Medical Sciences, State University of Campinas, Campinas, Brazil., Piovesana LG; Departments of Neurology and Medical Genetics, School of Medical Sciences, State University of Campinas, Campinas, Brazil., Lopes-Cendes ÍT; Departments of Neurology and Medical Genetics, School of Medical Sciences, State University of Campinas, Campinas, Brazil., de Azevedo PC; Departments of Neurology and Medical Genetics, School of Medical Sciences, State University of Campinas, Campinas, Brazil., França MC Jr; Departments of Neurology and Medical Genetics, School of Medical Sciences, State University of Campinas, Campinas, Brazil., Martinez ARM; Departments of Neurology and Medical Genetics, School of Medical Sciences, State University of Campinas, Campinas, Brazil., Teive HAG; Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de clínicas, Federal University of Paraná, Curitiba, Brazil.
Jazyk:	angličtina
Zdroj:	Frontiers in neurology [Front Neurol] 2020 Nov 12; Vol. 11, pp. 571843. Date of Electronic Publication: 2020 Nov 12 (Print Publication: 2020).
DOI:	10.3389/fneur.2020.571843
Abstrakt:	Background: Huntington's disease (HD) is a progressive disorder characterized by motor, cognitive and psychiatric features. Cerebellar ataxia is classically considered as uncommon in HD clinical spectrum. Objective: To determine the prevalence of cerebellar ataxia in patients with HD, both in the early and in the late stages of HD. Methods: Seventy-two individuals considered eligible were assessed by two trained doctors, applying the Scale for Assessment and Rating of Ataxia (SARA) and Brief Ataxia Rating Scale (BARS) for ataxia, the Unified Huntington's Disease Rating Scale (UHDRS) and also, Barthel Index (BI), in order to evaluate functional capacity. Results: Fifty-one patients (70.8%) presented with clinical ataxia at the time of examination (mean time of disease was 9.1 years). Six (8.33%) patients presented with cerebellar ataxia as first symptom. When stratified according to time of disease, a decline in the presence of chorea ( p = 0.032) and an increase in cognitive deficit ( p = 0.023) were observed in the patients as the disease progressed. The presence of ataxia was associated with longer duration of illness and severity of illness (UHDRS) ( p < 0.0001), and shorter Barthel (less functionality) ( p = 0.001). Conclusions: Cerebellar involvement may play an important role in natural history of brain degeneration in HD. The presence of cerebellar ataxia in HD is relevant and it may occur even in early stages, and should be included as part of the motor features of the disease. (Copyright © 2020 Franklin, Camargo, Meira, Pavanelli, Milano, Germiniani, Lima, Raskin, Barsottini, Pedroso, Maggi, Tumas, de Carvalho, de Oliveira, Braga, Souza, Guimarães, Piovesana, Lopes-Cendes, de Azevedo, França, Martinez and Teive.)
Databáze:	MEDLINE
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