{"title":"一名印度妇女因 SCA 15 而出现帕金森-肌张力障碍、震颤和精神病","authors":"Narendrakumar H Barad, C. Sankhla","doi":"10.4103/aomd.aomd_32_23","DOIUrl":null,"url":null,"abstract":"\n Spinocerebellar ataxias (SCAs) represent a diverse group of hereditary and progressive neurological disorders characterized by their onset in adulthood and commonly exhibit autosomal dominant inheritance. These disorders typically involve multiple brain regions, including the cerebellum, spinal cord, basal ganglia, brainstem, and cortical areas, leading to varied and heterogeneous clinical presentations. In particular, SCA 15 is recognized as an adult-onset, slowly progressive cerebellar syndrome, often accompanied by various other neurological manifestations. In this report, we present a novel clinical phenotype of parkinsonism–dystonia syndrome co-occurring with cerebellar features in a genetically confirmed case of SCA 15.","PeriodicalId":7973,"journal":{"name":"Annals of Movement Disorders","volume":"169 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2024-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"SCA 15 presenting with parkinsonism–dystonia, tremor, and psychosis in an Indian woman\",\"authors\":\"Narendrakumar H Barad, C. Sankhla\",\"doi\":\"10.4103/aomd.aomd_32_23\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\\n Spinocerebellar ataxias (SCAs) represent a diverse group of hereditary and progressive neurological disorders characterized by their onset in adulthood and commonly exhibit autosomal dominant inheritance. These disorders typically involve multiple brain regions, including the cerebellum, spinal cord, basal ganglia, brainstem, and cortical areas, leading to varied and heterogeneous clinical presentations. In particular, SCA 15 is recognized as an adult-onset, slowly progressive cerebellar syndrome, often accompanied by various other neurological manifestations. In this report, we present a novel clinical phenotype of parkinsonism–dystonia syndrome co-occurring with cerebellar features in a genetically confirmed case of SCA 15.\",\"PeriodicalId\":7973,\"journal\":{\"name\":\"Annals of Movement Disorders\",\"volume\":\"169 1\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-04-05\",\"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_32_23\",\"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_32_23","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}
SCA 15 presenting with parkinsonism–dystonia, tremor, and psychosis in an Indian woman
Spinocerebellar ataxias (SCAs) represent a diverse group of hereditary and progressive neurological disorders characterized by their onset in adulthood and commonly exhibit autosomal dominant inheritance. These disorders typically involve multiple brain regions, including the cerebellum, spinal cord, basal ganglia, brainstem, and cortical areas, leading to varied and heterogeneous clinical presentations. In particular, SCA 15 is recognized as an adult-onset, slowly progressive cerebellar syndrome, often accompanied by various other neurological manifestations. In this report, we present a novel clinical phenotype of parkinsonism–dystonia syndrome co-occurring with cerebellar features in a genetically confirmed case of SCA 15.