To perform a comprehensive characterization of a cohort of patients with chorea-acanthocytosis (ChAc) in Sweden.

Clinical assessments, targeted genetic studies, neuroimaging with MRI, [¹⁸F]-fluorodeoxyglucose (FDG) PET, and dopamine transporter with ¹²³I FP-CIT (DaTscan) SPECT. One patient underwent magnetic resonance spectroscopy (MRS).

Four patients living in Sweden but with different ethnical backgrounds were included. Their clinical features were variable. Biallelic VPS13A mutations were confirmed in all patients, including 3 novel mutations. All tested patients had either low or absent chorein levels. One patient had progressive caudate atrophy. Investigation using FDG-PET revealed severe bilateral striatal hypometabolism, and DaTscan SPECT displayed presynaptic dopaminergic deficiency in 3 patients. MRS demonstrated reduced N-acetylaspartate/creatine (Cr) ratio and mild elevation of both choline/Cr and combined glutamate and glutamine/Cr in the striatum in 1 case. One patient died during sleep, and another was treated with deep brain stimulation, which transiently attenuated feeding dystonia but not his gait disorder or chorea.

Larger longitudinal neuroimaging studies with different modalities, particularly MRS, are needed to determine their potential role as biomarkers for ChAc.

对瑞典的一组舞蹈病-棘红细胞增多症 (ChAc) 患者进行全面的表征。

临床评估、靶向遗传研究、MRI 神经影像学、[ ¹⁸ F]-氟脱氧葡萄糖 (FDG) PET 和多巴胺转运蛋白与¹²³ I FP-CIT (DaTscan) SPECT。一名患者接受了磁共振波谱（MRS）。

包括居住在瑞典但具有不同种族背景的四名患者。他们的临床特征是多变的。在所有患者中均证实了双等位基因 VPS13A突变，包括 3 个新突变。所有测试的患者都具有低或不存在的chorein 水平。一名患者出现进行性尾状核萎缩。使用 FDG-PET 进行的调查显示严重的双侧纹状体代谢不足，而 DaTscan SPECT 显示 3 名患者的突触前多巴胺能缺乏。在 1 例纹状体中，MRS 显示 N-乙酰天冬氨酸/肌酸 (Cr) 比率降低，胆碱/Cr 和谷氨酸和谷氨酰胺/Cr 联合轻度升高。一名患者在睡眠期间死亡，另一名患者接受了深部脑刺激治疗，这暂时减轻了喂养肌张力障碍，但并未减轻他的步态障碍或舞蹈症。

需要对不同模式，特别是 MRS 进行更大规模的纵向神经影像学研究，以确定它们作为 ChAc 生物标志物的潜在作用。