Department of Neurology, Shandong Provincial Qianfoshan Hospital, Weifang Medical University, 250014, Jinan, People's Republic of China.
Institute of Traditional Chinese Medicine Pharmacology, Shandong Academy of Chinese Medicine, 250014, Jinan, People's Republic of China.
BMC Neurol. 2022 Jul 18;22(1):265. doi: 10.1186/s12883-022-02798-9.
Primary familial brain calcification (PFBC) is a rare inherited neurological disorder characterized by bilateral basal ganglia calcification with a series of motor and nonmotor symptoms. Mutations in the SLC20A2 gene, encoding the PiT2 protein, are the major cause of the disease. Here, we report a Chinese PFBC family carrying a SLC20A2 gene mutation, and the proband presented with purely acute psychiatric symptoms, which has been rarely reported in this disease.
A 38-year-old woman was hospitalized due to disorganized speech; disordered thought contents; disorganized behaviour; emotional instability and lability; and grandiose words, actions and facial expressions. Brain computerized tomography (CT) revealed calcification in the basal ganglia; cerebellar dentate nuclei; and subcortical, periventricular, and deep white matter regions in she and her family members. Through mutation analysis, a heterozygous truncating mutation, c.1723G > T, p.(Glu575*), was identified in the SLC20A2 gene in this family. Thus, this patient was diagnosed with genetically confirmed PFBC, and she responded well to a low dose of antipsychotic drugs. The penetrance of the disease in this family was only 33%, which was significantly lower than that in most families carrying SLC20A2 gene mutations.
Patients with SLC20A2-related PFBC might present with psychiatric symptoms alone, and the penetrance of the disease may be quite low, which adds to the clinical heterogeneity of the disease.
原发性家族性脑钙化（PFBC）是一种罕见的遗传性神经退行性疾病，其特征是双侧基底节钙化，并伴有一系列运动和非运动症状。SLC20A2 基因突变是导致该疾病的主要原因，该基因编码 PiT2 蛋白。在此，我们报告了一个中国 PFBC 家系，携带 SLC20A2 基因突变，先证者表现为单纯的急性精神症状，在该疾病中鲜有报道。
一名 38 岁女性因言语紊乱；思维内容紊乱；行为紊乱；情绪不稳定和波动性；夸大的言语、行为和面部表情而住院。颅脑计算机断层扫描（CT）显示患者和其家庭成员的基底节、小脑齿状核、皮质下、脑室周围和深部白质区域存在钙化。通过突变分析，在该家系的 SLC20A2 基因中发现了杂合截断突变 c.1723G>T，p.(Glu575*)。因此，该患者被诊断为遗传性确诊的 PFBC，且对低剂量的抗精神病药物反应良好。该家系的疾病外显率仅为 33%，明显低于大多数携带 SLC20A2 基因突变的家系。
SLC20A2 相关 PFBC 患者可能仅表现为精神症状，且疾病的外显率可能相当低，这增加了疾病的临床异质性。
