Neurology Department, Hospital Universitario de Burgos, Avenida Islas Baleares, 3. 09006, Burgos, Spain.
Neurol Sci. 2022 May;43(5):3423-3425. doi: 10.1007/s10072-022-05962-8. Epub 2022 Feb 24.
Spinocerebellar ataxia type 3 (SCA-ATXN3) is a genetic neurodegenerative disease characterized by progressive cerebellar ataxia and other variable findings, including Parkinsonian syndrome. There is no disease-modifying treatment for SCA-ATXN3, so symptom-based management predominates. We aim to illustrate the disease's phenotypic variability and describe the effectiveness of advanced therapies in Parkinsonian symptoms.
We present two patients with a predominant levodopa-responsive Parkinsonian phenotype, combined with cerebellar features. We achieved an optimal control of Parkinsonian symptoms with a carbidopa-levodopa intestinal gel infusion pump.
We should suspect an SCA-ATXN3 etiology in patients with syndromes resembling an early-onset Parkinson disease with an autosomal dominant pattern. These patients could benefit from anti-Parkinsonian treatments, including levodopa intestinal gel infusion pump.
脊髓小脑共济失调 3 型（SCA-ATXN3）是一种以进行性小脑共济失调和其他可变表现为特征的遗传性神经退行性疾病，包括帕金森综合征。目前尚无针对 SCA-ATXN3 的疾病修正治疗方法，因此主要以对症治疗为主。我们旨在说明该病的表型变异性，并描述在帕金森症状方面的先进治疗方法的有效性。
我们介绍了两例以左旋多巴反应性帕金森综合征为主，伴有小脑特征的患者。我们使用卡比多巴-左旋多巴肠内凝胶输注泵实现了对帕金森症状的最佳控制。
对于表现为常染色体显性遗传模式的类似于早发性帕金森病的综合征患者，我们应怀疑其病因是 SCA-ATXN3。这些患者可能受益于抗帕金森病治疗，包括左旋多巴肠内凝胶输注泵。
