Riya Sharma, C V Sai Teja, Aditya Nayan, Manoj K Goyal, Karthik V Mahesh, Ritu Shree, Chirag K Ahuja, Manish Modi
{"title":"Dentate calcifications with palatal tremor and facial myorhythmia in adult-onset cerebral X-linked adrenoleukodystrophy.","authors":"Riya Sharma, C V Sai Teja, Aditya Nayan, Manoj K Goyal, Karthik V Mahesh, Ritu Shree, Chirag K Ahuja, Manish Modi","doi":"10.1016/j.parkreldis.2025.107313","DOIUrl":null,"url":null,"abstract":"<p><p>Adrenoleukodystrophy is the most common peroxisomal disorder of beta oxidation with highly complex clinical presentation across different ages of life challenging the diagnostic skills of neurologists. We report a 35-year-male with orbitofrontal lobar dysfunction, spastic paraparesis, cerebellar ataxia and characteristic perioral and palatal tremor with dentate nuclei calcification in imaging.</p>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":" ","pages":"107313"},"PeriodicalIF":3.1000,"publicationDate":"2025-02-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Parkinsonism & related disorders","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1016/j.parkreldis.2025.107313","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Adrenoleukodystrophy is the most common peroxisomal disorder of beta oxidation with highly complex clinical presentation across different ages of life challenging the diagnostic skills of neurologists. We report a 35-year-male with orbitofrontal lobar dysfunction, spastic paraparesis, cerebellar ataxia and characteristic perioral and palatal tremor with dentate nuclei calcification in imaging.
期刊介绍:
Parkinsonism & Related Disorders publishes the results of basic and clinical research contributing to the understanding, diagnosis and treatment of all neurodegenerative syndromes in which Parkinsonism, Essential Tremor or related movement disorders may be a feature. Regular features will include: Review Articles, Point of View articles, Full-length Articles, Short Communications, Case Reports and Letter to the Editor.