Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan.
Department of Neurosurgery, National Taiwan University Hospital, Taipei, Taiwan.
Eur J Neurol. 2022 Aug;29(8):2544-2547. doi: 10.1111/ene.15339.
Spinocerebellar ataxia type 3 (SCA3) is an autosomal dominant inherited disorder that manifests as a mixture of cerebellar ataxia, parkinsonism, and polyneuropathy; in type IV SCA3, pure parkinsonism is the only symptom. Currently, no disease-modifying treatment is available, but variable responses to antiparkinsonism agents have been reported. However, the benefits of deep brain stimulation (DBS) for treating parkinsonism in this subtype of SCA3 remain unclear.
A 39-year-old male patient with a rare disorder of type IV SCA3 presented with pure parkinsonism including unilateral resting tremor, rigidity, and bradykinesia at the age of 30 years. Young-onset Parkinson disease was diagnosed at the age of 32 years. His family history revealed a mild ataxia in his father since the age of 55 years. Genetic testing confirmed an expanded CAG repeated number, with 66 in this case and 63 in his father for SCA3 mutation. Excellent response to levodopa and dopamine agonists in the first 3 years was noted, but wearing-off phenomena, levodopa-induced dyskinesia, and severe impulse control disorders later developed. To alleviate drug-induced complications, he received bilateral subthalamic nucleus deep brain stimulation (STN-DBS) in the absence of cerebellar signs, depression, and cognitive impairment.
As of 2019, no impulsive control disorders, motor fluctuations, or DBS-related complications were observed during a 4-year follow-up, with 66% Unified Parkinson's Disease Rating Scale Part III reduction at medication OFF state noted, whereas levodopa equivalent daily dosage decreased by almost half.
STN-DBS may be considered as adjunct treatment for severe dopa-related motor/nonmotor complications in patients with parkinsonian phenotype of SCA 3.
脊髓小脑共济失调 3 型（SCA3）是一种常染色体显性遗传性疾病，表现为小脑共济失调、帕金森病和多发性神经病的混合体；在 SCA3 型 4 型中，单纯帕金森病是唯一的症状。目前，尚无疾病修饰治疗方法，但已有报道称抗帕金森病药物的反应存在差异。然而，深部脑刺激（DBS）治疗这种 SCA3 亚型帕金森病的效果尚不清楚。
一位 39 岁的男性患者患有罕见的 SCA3 型 4 型疾病，他在 30 岁时出现了单纯帕金森病，包括单侧静止性震颤、僵硬和运动迟缓。32 岁时被诊断为早发性帕金森病。他的家族史显示，他的父亲自 55 岁以来就有轻度共济失调。基因检测证实存在扩展 CAG 重复数，该患者为 66，其父亲为 63，均为 SCA3 突变。在最初的 3 年中，他对左旋多巴和多巴胺激动剂的反应良好，但后来出现了药效减退、左旋多巴诱导的运动障碍和严重的冲动控制障碍。为了减轻药物引起的并发症，在没有小脑征、抑郁和认知障碍的情况下，他接受了双侧丘脑底核深部脑刺激（STN-DBS）治疗。
截至 2019 年，在 4 年的随访中，没有出现冲动控制障碍、运动波动或与 DBS 相关的并发症，在药物停药状态下观察到 66%的统一帕金森病评定量表第 3 部分评分降低，而左旋多巴等效日剂量减少了近一半。
STN-DBS 可考虑作为帕金森病表型 SCA3 患者严重与多巴胺相关的运动/非运动并发症的辅助治疗方法。
