Movement Disorders Centre, Neurology Unit, Department of Translational Medicine, University of Piemonte Orientale, Corso Mazzini 18, 28100, Novara, Italy.
PhD Program in Medical Sciences and Biotechnology, University of Piemonte Orientale, 28100, Novara, Italy.
Cerebellum. 2024 Jun;23(3):1226-1230. doi: 10.1007/s12311-023-01619-0. Epub 2023 Oct 19.
Spinocerebellar ataxia (SCA)19/22 is a channelopathy caused by mutations in the KCND3 gene encoding for the voltage-gated potassium channel Kv4.3. In the present work, we report an Italian family harboring a novel KCND3 missense mutation characterized by ataxia and mild parkinsonism. Patients underwent dopamine transporter single-photon emission computed tomography to assess dopaminergic degeneration. Normal findings were observed, and treatment with levodopa did not yield any benefit, thus suggesting the involvement of other mechanisms to explain parkinsonian symptoms in SCA19/22. Our cases expand the genetic and imaging spectrum of this rare disease and emphasize a cautious approach in managing parkinsonism in these patients.
脊髓小脑共济失调 19/22（SCA19/22）是一种由电压门控钾通道 Kv4.3 基因编码的 KCND3 基因突变引起的通道病。在本研究中，我们报告了一个意大利家族，该家族携带一种新的 KCND3 错义突变，表现为共济失调和轻度帕金森病。患者接受了多巴胺转运体单光子发射计算机断层扫描，以评估多巴胺能神经退行性变。观察到正常结果，并且左旋多巴治疗没有带来任何益处，这表明涉及其他机制来解释 SCA19/22 中的帕金森病症状。我们的病例扩展了这种罕见疾病的遗传和影像学谱，并强调在这些患者中管理帕金森病时应谨慎。
