Katedra i Zakład Podstawowych Nauk Medycznych, Wydział Nauk o Zdrowiu w Bytomiu, Śląski Uniwersytet Medyczny w Katowicach.
Katedra i Klinika Neurologii, Wydział Lekarski z Oddziałem Lekarsko-Dentystycznym w Zabrzu, Śląski Uniwersytet Medyczny w Katowicach.
Psychiatr Pol. 2021 Apr 30;55(2):323-330. doi: 10.12740/PP/OnlineFirst/114122.
Dementia syndromes constitute problem not only for the elderly. Early-onset dementia (EOD) starts below the age of 65 years. It accounts for 4-10% of all cases of dementia. EOD has significant psychosocial consequences because it affects people in their most productive years of life, with numerous family, professional and social responsibilities. There are many diseases that have been identified as the cause of the EOD. Among them, the most common are Alzheimer's disease, vascular dementia, fronto-temporal dementia, Lewy body dementia, traumatic brain injury, alcohol related dementia, Huntington's disease, Parkinson's disease, mixed dementia, Creutzfeldt-Jakob disease and Down's syndrome. Most studies have demonstrated Alzheimer's disease as the most common etiology of EOD. The article presents the case of a 33-year-old patient hospitalized in the Department of Neurology in Zabrze, with cognitive dysfunction, speech disordersand featuresof Parkinson's extrapyramidal syndrome that have been progressing for about 15 months. The MR of the head revealed cortical and subcortical atrophy, especially in parietal and temporal lobes. The cerebrospinal fluid examination showed decreased level of β-amyloid and significantly elevated level of H-tau. The patient was diagnosed with early-onset Alzheimer's disease, which was confirmed by genetic testing - the sequence change was identified in the gene for presenilin 1 in a heterozygous system.
痴呆综合征不仅是老年人的问题。早发性痴呆(EOD)发生在 65 岁以下。它占所有痴呆病例的 4-10%。EOD 具有重大的社会心理后果,因为它影响人们生命中最富有成效的岁月,他们肩负着众多家庭、职业和社会责任。有许多疾病已被确定为 EOD 的病因。其中,最常见的是阿尔茨海默病、血管性痴呆、额颞叶痴呆、路易体痴呆、创伤性脑损伤、酒精相关痴呆、亨廷顿病、帕金森病、混合性痴呆、克雅氏病和唐氏综合征。大多数研究表明,阿尔茨海默病是 EOD 最常见的病因。本文介绍了一位 33 岁的患者,他因认知功能障碍、言语障碍和帕金森病锥体外系综合征的特征而在扎布热神经病学系住院,这些症状已经持续了大约 15 个月。头部磁共振成像显示皮质和皮质下萎缩,特别是在顶叶和颞叶。脑脊液检查显示β-淀粉样蛋白水平降低,H-tau 水平显著升高。患者被诊断为早发性阿尔茨海默病,基因检测证实了这一点——在杂合系统中鉴定出早老素 1 基因的序列改变。