Zhou Zhengqiu, Ainger Timothy J, Han Dong Y
a Department of Neurology , University of Kentucky College of Medicine , Lexington, KY, USA.
b Department of Neurosurgery , University of Kentucky College of Medicine , Lexington, KY, USA.
Neurocase. 2018 Oct-Dec;24(5-6):287-289. doi: 10.1080/13554794.2019.1590603. Epub 2019 Mar 7.
Familial Danish dementia (FDD) is a rare, autosomal dominant neurodegenerative disorder characterized by progressive hearing loss, cataracts, progressive ataxia, and dementia. While multiple pathophysiological studies exist in the literature, clinical case presentations are currently limited. We present a case of young-onset dementia in a 47-year-old patient with Danish heritage who was subsequently diagnosed FDD through genetic testing. Cognitive impairment was his initial symptom, followed by Parkinsonian symptoms, and mood disturbances. The patient experienced rapid decline over only 19 months. Increased awareness and understanding of familial forms of dementia (i.e., FDD) can contribute to an enhanced provision of care for patients with such conditions.
家族性丹麦痴呆症(FDD)是一种罕见的常染色体显性神经退行性疾病,其特征为进行性听力丧失、白内障、进行性共济失调和痴呆。虽然文献中有多项病理生理学研究,但目前临床病例报告有限。我们报告一例47岁有丹麦血统的早发性痴呆症患者,该患者随后通过基因检测被诊断为FDD。认知障碍是其初始症状,随后出现帕金森氏症症状和情绪障碍。该患者仅在19个月内病情迅速恶化。提高对家族性痴呆症(即FDD)的认识和理解有助于为患有此类疾病的患者提供更好的护理。