A case report of adult-onset Alexander disease clinically presenting as Parkinson’s disease: is the comorbidity associated with genetic susceptibility?

BMC Neurology

Jieun Kim¹  Jongkyu Park²  Kyum-Yil Kwon³  Sung-Tae Park⁴ 

[1] Department of Laboratory Medicine, Soonchunhyang University Seoul Hospital, Soonchunhyang University College of Medicine;Department of Neurology, Soonchunhyang University Cheonan Hospital, Soonchunhyang University College of Medicine;Department of Neurology, Soonchunhyang University Seoul Hospital, Soonchunhyang University College of Medicine;Department of Radiology, Soonchunhyang University Seoul Hospital, Soonchunhyang University College of Medicine;

关键词: Alexander disease;    Parkinson’s disease;    MRI;    FP-CIT PET;   

DOI  :  10.1186/s12883-020-1616-8

来源: DOAJ

【 摘 要 】

Abstract Background Alexander disease is a rare neurological disease characterized by progressive spastic quadriparesis and bulbar palsy. Moreover, certain patients with adult-onset Alexander disease were often misdiagnosed as other neurodegenerative disorders. Case presentation Herein, we report an adult a 58-year-old woman presented with typical parkinsonism with good levodopa-responsiveness. The patient’s dopamine transporter scanning showed significant striatal depletion, while her brain magnetic resonance imaging revealed bilateral tadpole shape of medulla oblongata and bilateral high signal intensity at both cerebellar dentate nuclei in T2-weighted images, suggesting the possibility of a genetic disorder beyond Parkinson’s disease. The patient’s genetic test resulted in known pathogenic glial fibrillary acidic protein variant, indicating Alexander disease. Conclusion This unique case highlights genetically diagnosed Alexander disease may present with clinical Parkinson’s disease.

【 授权许可】

Unknown