{"title":"MAPT基因变异引起的额颞叶痴呆性帕金森综合征伴静息和活动性震颤。","authors":"Shakya Bhattacharjee, Christopher Kobylecki","doi":"10.5334/tohm.804","DOIUrl":null,"url":null,"abstract":"<p><p>A 50-year-old male presented with a four-year history of gradually progressive rest tremor in the distal right lower limb and then spreading to the left lower limb in last 10-12 months. He developed right arm rest and action tremor two years later. Magnetic resonance imaging scans showed progressive frontotemporal and asymmetrical mesial temporal atrophy. Genetic testing revealed a heterozygous c.915+16C>T pathogenic variant in intron 9 of the <i>MAPT</i> gene. Presentation with rest tremor should not exclude frontotemporal dementia-parkinsonism due to a <i>MAPT</i> variant as a differential diagnosis though rest tremor is a rare presentation.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":null,"pages":null},"PeriodicalIF":2.5000,"publicationDate":"2023-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10516137/pdf/","citationCount":"0","resultStr":"{\"title\":\"Frontotemporal Dementia-Parkinsonism Due to <i>MAPT</i> Gene Variant Presenting with Rest and Action Tremor.\",\"authors\":\"Shakya Bhattacharjee, Christopher Kobylecki\",\"doi\":\"10.5334/tohm.804\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>A 50-year-old male presented with a four-year history of gradually progressive rest tremor in the distal right lower limb and then spreading to the left lower limb in last 10-12 months. He developed right arm rest and action tremor two years later. Magnetic resonance imaging scans showed progressive frontotemporal and asymmetrical mesial temporal atrophy. Genetic testing revealed a heterozygous c.915+16C>T pathogenic variant in intron 9 of the <i>MAPT</i> gene. Presentation with rest tremor should not exclude frontotemporal dementia-parkinsonism due to a <i>MAPT</i> variant as a differential diagnosis though rest tremor is a rare presentation.</p>\",\"PeriodicalId\":23317,\"journal\":{\"name\":\"Tremor and Other Hyperkinetic Movements\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":2.5000,\"publicationDate\":\"2023-09-21\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10516137/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Tremor and Other Hyperkinetic Movements\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.5334/tohm.804\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2023/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q2\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Tremor and Other Hyperkinetic Movements","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5334/tohm.804","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/1/1 0:00:00","PubModel":"eCollection","JCR":"Q2","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
Frontotemporal Dementia-Parkinsonism Due to MAPT Gene Variant Presenting with Rest and Action Tremor.
A 50-year-old male presented with a four-year history of gradually progressive rest tremor in the distal right lower limb and then spreading to the left lower limb in last 10-12 months. He developed right arm rest and action tremor two years later. Magnetic resonance imaging scans showed progressive frontotemporal and asymmetrical mesial temporal atrophy. Genetic testing revealed a heterozygous c.915+16C>T pathogenic variant in intron 9 of the MAPT gene. Presentation with rest tremor should not exclude frontotemporal dementia-parkinsonism due to a MAPT variant as a differential diagnosis though rest tremor is a rare presentation.