Santos-Lobato Bruno Lopes, Rocha Jéssica Santos de Souza, Rocha Luciano Chaves
Laboratory of Experimental Neuropathology, Federal University of Pará, Belém, PA, Brazil.
Hospital Ophir Loyola, Belém, PA, Brazil.
Front Neurol. 2023 Jan 11;13:1089193. doi: 10.3389/fneur.2022.1089193. eCollection 2022.
Juvenile Huntington's disease is an early-onset variant of Huntington's disease, generally associated with large CAG repeats and distinct clinical symptoms. The role of the cerebellum in Huntington's disease has been reevaluated, based on the presence of ataxia and findings on the impact of the disease on cerebellar volume. Recent studies showed a hyperconnectivity between the cerebellum and the basal ganglia in premanifest children with expanded CAG repeats, as well as an enlargement of the cerebellum in adolescence-onset Huntington's disease. We report a 21-year-old Brazilian female with Huntington's disease (age at disease onset 16 years) with Parkinsonism and no ataxic features. There was no reduction of cerebellar volume over 3 years of follow-up, despite the brain atrophy in other regions and clinical worsening. Furthermore, the cerebellar volume of the patient was similar to age- and sex-matched controls. These findings support the existence of compensatory mechanisms involving the cerebellum in individuals with a moderate-to-high number of CAG repeats (50-100 copies) in the early stages of life.
青少年型亨廷顿舞蹈病是亨廷顿舞蹈病的一种早发型变体，通常与大量CAG重复序列及独特的临床症状相关。基于共济失调的存在以及该疾病对小脑体积影响的研究结果，小脑在亨廷顿舞蹈病中的作用已被重新评估。最近的研究表明，在CAG重复序列扩展的症状前儿童中，小脑与基底神经节之间存在过度连接，以及在青少年型亨廷顿舞蹈病中存在小脑增大的情况。我们报告了一名21岁的巴西女性亨廷顿舞蹈病患者（发病年龄16岁），伴有帕金森综合征且无共济失调特征。在3年的随访中，尽管其他区域出现脑萎缩且临床症状恶化，但小脑体积并未减小。此外，该患者的小脑体积与年龄和性别匹配的对照组相似。这些发现支持了在生命早期具有中度至高数量CAG重复序列（50 - 100个拷贝）的个体中存在涉及小脑的代偿机制。
