{"title":"遗传性神经病的十大临床珍珠。","authors":"Ruchee Patel, Bipasha Mukherjee-Clavin","doi":"10.1055/s-0044-1791520","DOIUrl":null,"url":null,"abstract":"<p><p>The inherited neuropathies are a clinically and genetically heterogeneous collection of neuropathies that neurologists, particularly neuromuscular specialists, must be familiar with. They include Charcot-Marie-Tooth disease, which is common yet currently lacks targeted treatment, and hATTRV polyneuropathy, which is rare but has disease-modifying gene therapies. With a focus on emerging new genes and treatments, this article offers a recent update on clinical diagnosis and management of inherited neuropathies.</p>","PeriodicalId":49544,"journal":{"name":"Seminars in Neurology","volume":" ","pages":""},"PeriodicalIF":1.8000,"publicationDate":"2024-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Top 10 Clinical Pearls in Inherited Neuropathies.\",\"authors\":\"Ruchee Patel, Bipasha Mukherjee-Clavin\",\"doi\":\"10.1055/s-0044-1791520\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>The inherited neuropathies are a clinically and genetically heterogeneous collection of neuropathies that neurologists, particularly neuromuscular specialists, must be familiar with. They include Charcot-Marie-Tooth disease, which is common yet currently lacks targeted treatment, and hATTRV polyneuropathy, which is rare but has disease-modifying gene therapies. With a focus on emerging new genes and treatments, this article offers a recent update on clinical diagnosis and management of inherited neuropathies.</p>\",\"PeriodicalId\":49544,\"journal\":{\"name\":\"Seminars in Neurology\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":1.8000,\"publicationDate\":\"2024-10-15\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Seminars in Neurology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1055/s-0044-1791520\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Seminars in Neurology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1055/s-0044-1791520","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
The inherited neuropathies are a clinically and genetically heterogeneous collection of neuropathies that neurologists, particularly neuromuscular specialists, must be familiar with. They include Charcot-Marie-Tooth disease, which is common yet currently lacks targeted treatment, and hATTRV polyneuropathy, which is rare but has disease-modifying gene therapies. With a focus on emerging new genes and treatments, this article offers a recent update on clinical diagnosis and management of inherited neuropathies.
期刊介绍：
Seminars in Neurology is a review journal on current trends in the evaluation, diagnosis, and treatment of neurological diseases. Areas of coverage include multiple sclerosis, central nervous system infections, muscular dystrophy, neuro-immunology, spinal disorders, strokes, epilepsy, motor neuron diseases, movement disorders, higher cortical function, neuro-genetics and neuro-ophthamology. Each issue is presented under the direction of an expert guest editor, and invited contributors focus on a single, high-interest clinical topic.
Up-to-the-minute coverage of the latest information in the field makes this journal an invaluable resource for neurologists and residents.
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