重复经颅磁刺激缓解了 CADASIL 年轻患者的抑郁:病例报告

IF 3.1 4区 医学 Q2 CLINICAL NEUROLOGY Journal of Neurorestoratology Pub Date : 2023-12-22 DOI:10.1016/j.jnrt.2023.100093
Mengru Qi , Mengke Ban , Zhaoyang Lu , Shuwen Cao , Ranran Yang , Ping Zhang , Jinggui Song
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引用次数: 0

摘要

脑常染色体显性动脉病伴有皮层下梗塞和白质脑病(CADASIL)是一种相对常见的遗传性动脉平滑肌细胞病。该病的基因缺陷位于染色体19q12上的NOTCH同源蛋白3(NOTCH3)基因,是由NOTCH3的一个错义变体引起的。主要临床表现为短暂性脑缺血发作和反复中风,认知障碍导致痴呆、先兆偏头痛和精神/情感障碍。迄今为止,尚无特效治疗方案,只能对急性中风、偏头痛、痴呆和精神异常等症状进行对症支持治疗。在此,我们提供了一例中国 CADASIL 患者的病例报告,该患者患有 NOTCH3 基因第 4 外显子突变(p.Arg133Cys)。患者主要表现为复发性脑梗死和情感障碍。抗抑郁剂治疗结合重复经颅磁刺激,明显改善了患者的抑郁症状。
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Repetitive transcranial magnetic stimulation alleviates depression in a young patient with CADASIL: A case report

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a relatively common inherited arterial smooth muscle cell disease. The genetic defect is localized to the notch homolog protein 3 (NOTCH3) gene on chromosome 19q12 and is due to a missense variant in NOTCH3. The main clinical manifestations are transient ischemic attacks and repeated stroke, with cognitive impairments leading to dementia, migraine with aura, and mental/emotional disorders. To date, there is no specific therapeutic option, with only symptomatic supportive treatment for the symptoms of acute stroke, migraine, dementia, and mental abnormalities. Here, we provide a case report of a Chinese patient with CADASIL and a mutation in exon 4 of the NOTCH3 gene (p.Arg133Cys). The patient mainly exhibited recurrent cerebral infarction and affective disorder. Antidepressant treatment combined with repetitive transcranial magnetic stimulation significantly improved the depressive symptoms of the patient.

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来源期刊
Journal of Neurorestoratology
Journal of Neurorestoratology CLINICAL NEUROLOGY-
CiteScore
2.10
自引率
18.20%
发文量
22
审稿时长
12 weeks
期刊最新文献
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