Franklin Gustavo L, Camargo Carlos Henrique F, Meira Alex T, Pavanelli Giovana M, Milano Sibele S, Germiniani Francisco B, Lima Nayra S C, Raskin Salmo, Barsottini Orlando Graziani Povoas, Pedroso José Luiz, Maggi Fernanda Aparecida, Tumas Vitor, de Carvalho Pedro Manzke, de Oliveira Ana Carolina, Braga Bárbara, Souza Laura Cristina, Guimarães Rachel Paes, Piovesana Luiza Gonzaga, Lopes-Cendes Íscia Teresinha, de Azevedo Paula Christina, França Marcondes Cavalcante, Martinez Alberto Rolim Muro, Teive Hélio A G
Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de clínicas, Federal University of Paraná, Curitiba, Brazil.
Faculdade de Medicina, Universidade de Vila Velha, Espirito Santo, Brazil.
Front Neurol. 2020 Nov 12;11:571843. doi: 10.3389/fneur.2020.571843. eCollection 2020.
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. To determine the prevalence of cerebellar ataxia in patients with HD, both in the early and in the late stages of HD. 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. 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 ( = 0.032) and an increase in cognitive deficit ( = 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) ( < 0.0001), and shorter Barthel (less functionality) ( = 0.001). 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.
亨廷顿舞蹈症（HD）是一种以运动、认知和精神症状为特征的进行性疾病。经典观点认为，小脑共济失调在HD临床谱中并不常见。为了确定HD患者在疾病早期和晚期小脑共济失调的患病率，72名符合条件的个体由两名经过培训的医生进行评估，使用共济失调评估与分级量表（SARA）和简易共济失调评定量表（BARS）评估共济失调，使用统一亨廷顿舞蹈病评定量表（UHDRS）以及巴氏指数（BI）评估功能能力。51名患者（70.8%）在检查时出现临床共济失调（疾病平均病程为9.1年）。6名（8.33%）患者以小脑共济失调作为首发症状。根据病程分层，随着疾病进展，患者的舞蹈症表现下降（P = 0.032），认知缺陷增加（P = 0.023）。共济失调的出现与病程长短和疾病严重程度（UHDRS）相关（P < 0.0001），与巴氏指数降低（功能较差）相关（P = 0.001）。小脑受累可能在HD脑变性的自然病程中起重要作用。HD中存在小脑共济失调是相关的，甚至可能在早期出现，应将其纳入该疾病运动特征的一部分。
