Catherine Ashton, Mark Davis, Nigel Laing, Gianina Ravenscroft, Philipa Lamont
{"title":"新的SERAC1变异表现为成人发病锥体外系肌张力障碍-帕金森病表型:1例报告。","authors":"Catherine Ashton, Mark Davis, Nigel Laing, Gianina Ravenscroft, Philipa Lamont","doi":"10.1212/NXG.0000000000200067","DOIUrl":null,"url":null,"abstract":"<p><strong>Objectives: </strong>To report a novel likely pathogenic variant in the <i>SERAC1</i> gene associated with early adult-onset parkinsonism and progressive dystonia.</p><p><strong>Methods: </strong>Clinical, biochemical, and imaging assessments were performed on 2 affected adult brothers with a genetically unsolved progressive neurologic disorder followed by whole-genome sequencing.</p><p><strong>Results: </strong>A homozygous likely pathogenic variant in the <i>SERAC1</i> gene (c.[129-2A > C], p.[(?)];[(?)]) was discovered.</p><p><strong>Discussion: </strong>We describe a novel homozygous variant in the serine active site-containing protein 1 gene (<i>SERAC1</i>) in 2 brothers with a progressive extrapyramidal movement disorder of early onset parkinsonism and dystonia. Previous variants have been associated with a severe 3-methylglutaconic aciduria with dystonia, deafness, hepatopathy, encephalopathy and Leigh-like syndrome, or juvenile onset complicated spastic paraparesis. Our cases expand the phenotype of <i>SERAC1</i> variants, with an adult-onset presentation of dystonia-parkinsonism.</p>","PeriodicalId":48613,"journal":{"name":"Neurology-Genetics","volume":"9 2","pages":"e200067"},"PeriodicalIF":3.0000,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/f8/8e/NXG-2023-000010.PMC10117696.pdf","citationCount":"0","resultStr":"{\"title\":\"Novel <i>SERAC1</i> Variant Presenting With Adult-Onset Extrapyramidal Dystonia-Parkinsonism Phenotype: A Case Report.\",\"authors\":\"Catherine Ashton, Mark Davis, Nigel Laing, Gianina Ravenscroft, Philipa Lamont\",\"doi\":\"10.1212/NXG.0000000000200067\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objectives: </strong>To report a novel likely pathogenic variant in the <i>SERAC1</i> gene associated with early adult-onset parkinsonism and progressive dystonia.</p><p><strong>Methods: </strong>Clinical, biochemical, and imaging assessments were performed on 2 affected adult brothers with a genetically unsolved progressive neurologic disorder followed by whole-genome sequencing.</p><p><strong>Results: </strong>A homozygous likely pathogenic variant in the <i>SERAC1</i> gene (c.[129-2A > C], p.[(?)];[(?)]) was discovered.</p><p><strong>Discussion: </strong>We describe a novel homozygous variant in the serine active site-containing protein 1 gene (<i>SERAC1</i>) in 2 brothers with a progressive extrapyramidal movement disorder of early onset parkinsonism and dystonia. Previous variants have been associated with a severe 3-methylglutaconic aciduria with dystonia, deafness, hepatopathy, encephalopathy and Leigh-like syndrome, or juvenile onset complicated spastic paraparesis. Our cases expand the phenotype of <i>SERAC1</i> variants, with an adult-onset presentation of dystonia-parkinsonism.</p>\",\"PeriodicalId\":48613,\"journal\":{\"name\":\"Neurology-Genetics\",\"volume\":\"9 2\",\"pages\":\"e200067\"},\"PeriodicalIF\":3.0000,\"publicationDate\":\"2023-04-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/f8/8e/NXG-2023-000010.PMC10117696.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Neurology-Genetics\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1212/NXG.0000000000200067\",\"RegionNum\":3,\"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":"Neurology-Genetics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1212/NXG.0000000000200067","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
Novel SERAC1 Variant Presenting With Adult-Onset Extrapyramidal Dystonia-Parkinsonism Phenotype: A Case Report.
Objectives: To report a novel likely pathogenic variant in the SERAC1 gene associated with early adult-onset parkinsonism and progressive dystonia.
Methods: Clinical, biochemical, and imaging assessments were performed on 2 affected adult brothers with a genetically unsolved progressive neurologic disorder followed by whole-genome sequencing.
Results: A homozygous likely pathogenic variant in the SERAC1 gene (c.[129-2A > C], p.[(?)];[(?)]) was discovered.
Discussion: We describe a novel homozygous variant in the serine active site-containing protein 1 gene (SERAC1) in 2 brothers with a progressive extrapyramidal movement disorder of early onset parkinsonism and dystonia. Previous variants have been associated with a severe 3-methylglutaconic aciduria with dystonia, deafness, hepatopathy, encephalopathy and Leigh-like syndrome, or juvenile onset complicated spastic paraparesis. Our cases expand the phenotype of SERAC1 variants, with an adult-onset presentation of dystonia-parkinsonism.
期刊介绍：
Neurology: Genetics is an online open access journal publishing peer-reviewed reports in the field of neurogenetics. Original articles in all areas of neurogenetics will be published including rare and common genetic variation, genotype-phenotype correlations, outlier phenotypes as a result of mutations in known disease-genes, and genetic variations with a putative link to diseases. This will include studies reporting on genetic disease risk and pharmacogenomics. In addition, Neurology: Genetics will publish results of gene-based clinical trials (viral, ASO, etc.). Genetically engineered model systems are not a primary focus of Neurology: Genetics, but studies using model systems for treatment trials are welcome, including well-powered studies reporting negative results.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
