Vikas Lakhanpal, S. Peer, Ramandeep Singh, Bhawna Sharma
{"title":"线粒体膜蛋白相关神经变性伴有单纯运动神经病变:罕见病例报告和文献综述","authors":"Vikas Lakhanpal, S. Peer, Ramandeep Singh, Bhawna Sharma","doi":"10.4103/aomd.aomd_3_24","DOIUrl":null,"url":null,"abstract":"\n Neurodegeneration with brain iron accumulation is a collective term for neurodegenerative disorders characterized by excessive deposition of iron in the brain, especially in the globus pallidus and substantia nigra. Mitochondrial membrane protein-associated neurodegeneration mainly affects the pyramidal and extrapyramidal systems, and patients can present with various manifestations during disease progression, including gait disorder, dystonia, ataxia, swallowing dysfunction, neuropsychiatric abnormalities, cognitive disabilities, optic atrophy, and, sometimes, peripheral neuropathy. We report a patient of mitochondrial membrane protein-associated neurodegeneration with peripheral neuropathy as the predominant symptom.","PeriodicalId":7973,"journal":{"name":"Annals of Movement Disorders","volume":"23 11","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2024-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Mitochondrial membrane protein-associated neurodegeneration presenting with pure motor neuropathy: A rare case report and review of the literature\",\"authors\":\"Vikas Lakhanpal, S. Peer, Ramandeep Singh, Bhawna Sharma\",\"doi\":\"10.4103/aomd.aomd_3_24\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\\n Neurodegeneration with brain iron accumulation is a collective term for neurodegenerative disorders characterized by excessive deposition of iron in the brain, especially in the globus pallidus and substantia nigra. Mitochondrial membrane protein-associated neurodegeneration mainly affects the pyramidal and extrapyramidal systems, and patients can present with various manifestations during disease progression, including gait disorder, dystonia, ataxia, swallowing dysfunction, neuropsychiatric abnormalities, cognitive disabilities, optic atrophy, and, sometimes, peripheral neuropathy. We report a patient of mitochondrial membrane protein-associated neurodegeneration with peripheral neuropathy as the predominant symptom.\",\"PeriodicalId\":7973,\"journal\":{\"name\":\"Annals of Movement Disorders\",\"volume\":\"23 11\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-06-03\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Annals of Movement Disorders\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.4103/aomd.aomd_3_24\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annals of Movement Disorders","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4103/aomd.aomd_3_24","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}
Mitochondrial membrane protein-associated neurodegeneration presenting with pure motor neuropathy: A rare case report and review of the literature
Neurodegeneration with brain iron accumulation is a collective term for neurodegenerative disorders characterized by excessive deposition of iron in the brain, especially in the globus pallidus and substantia nigra. Mitochondrial membrane protein-associated neurodegeneration mainly affects the pyramidal and extrapyramidal systems, and patients can present with various manifestations during disease progression, including gait disorder, dystonia, ataxia, swallowing dysfunction, neuropsychiatric abnormalities, cognitive disabilities, optic atrophy, and, sometimes, peripheral neuropathy. We report a patient of mitochondrial membrane protein-associated neurodegeneration with peripheral neuropathy as the predominant symptom.