Mengru Qi , Mengke Ban , Zhaoyang Lu , Shuwen Cao , Ranran Yang , Ping Zhang , Jinggui Song
{"title":"重复经颅磁刺激缓解了 CADASIL 年轻患者的抑郁:病例报告","authors":"Mengru Qi , Mengke Ban , Zhaoyang Lu , Shuwen Cao , Ranran Yang , Ping Zhang , Jinggui Song","doi":"10.1016/j.jnrt.2023.100093","DOIUrl":null,"url":null,"abstract":"<div><p>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 (<em>NOTCH3</em>) gene on chromosome 19q12 and is due to a missense variant in <em>NOTCH3</em>. 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 <em>NOTCH3</em> 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.</p></div>","PeriodicalId":44709,"journal":{"name":"Journal of Neurorestoratology","volume":"12 1","pages":"Article 100093"},"PeriodicalIF":3.1000,"publicationDate":"2023-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2324242623000530/pdfft?md5=7fe0a20b83c20180c385d49e58a2e4c0&pid=1-s2.0-S2324242623000530-main.pdf","citationCount":"0","resultStr":"{\"title\":\"Repetitive transcranial magnetic stimulation alleviates depression in a young patient with CADASIL: A case report\",\"authors\":\"Mengru Qi , Mengke Ban , Zhaoyang Lu , Shuwen Cao , Ranran Yang , Ping Zhang , Jinggui Song\",\"doi\":\"10.1016/j.jnrt.2023.100093\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>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 (<em>NOTCH3</em>) gene on chromosome 19q12 and is due to a missense variant in <em>NOTCH3</em>. 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 <em>NOTCH3</em> 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.</p></div>\",\"PeriodicalId\":44709,\"journal\":{\"name\":\"Journal of Neurorestoratology\",\"volume\":\"12 1\",\"pages\":\"Article 100093\"},\"PeriodicalIF\":3.1000,\"publicationDate\":\"2023-12-22\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.sciencedirect.com/science/article/pii/S2324242623000530/pdfft?md5=7fe0a20b83c20180c385d49e58a2e4c0&pid=1-s2.0-S2324242623000530-main.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Neurorestoratology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S2324242623000530\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Neurorestoratology","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2324242623000530","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
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.