Dichgans M, Mayer M, Uttner I, Brüning R, Müller-Höcker J, Rungger G, Ebke M, Klockgether T, Gasser T
Department of Neurology, Klinikum Grosshadern, Ludwig-Maximilians-Universität, Munich, Germany.
Ann Neurol. 1998 Nov;44(5):731-9. doi: 10.1002/ana.410440506.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an increasingly recognized autosomal dominant disorder that leads to cerebrovascular manifestations in early adulthood. This study delineates the phenotypic spectrum and the natural history of the disease in 102 affected individuals from 29 families with biopsy-proven CADASIL. Recurrent ischemic episodes (transient ischemic attack [TIA] or stroke) were the most frequent presentation found in 71% of the cases (mean age at onset, 46.1 years; range, 30-66 years; SD, 9.0 years). Forty-eight percent of the cases had developed cognitive deficits. Dementia (28%) was frequently accompanied by gait disturbance (90%), urinary incontinence (86%), and pseudobulbar palsy (52%). Thirty-nine patients (38%) had a history of migraine (mean age at onset, 26.0 years; SD, 8.2 years), which was classified as migraine with aura in 87% of the cases. Psychiatric disturbances were present in 30% of the cases, with adjustment disorder (24%) being the most frequent diagnosis. Ten patients (10%) had a history of epileptic seizures. To delineate the functional consequences of ischemic deficits, we studied the extent of disability in different age groups. The full spectrum of disability was seen in all groups older than age 45. Fifty-five percent of the patients older than age 60 were unable to walk without assistance. However, 14% in this age group exhibited no disability at all. Kaplan-Meier analysis disclosed median survival times of 64 years (males) and 69 years (females). An investigation of the 18 multiplex families revealed marked intrafamilial variations.
伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病（CADASIL）是一种日益被认识的常染色体显性遗传病，可导致成年早期出现脑血管症状。本研究描述了来自29个经活检证实为CADASIL的家庭中102例患者的疾病表型谱和自然病史。复发性缺血发作（短暂性脑缺血发作[TIA]或中风）是最常见的表现，71%的病例出现此症状（发病平均年龄46.1岁；范围30 - 66岁；标准差9.0岁）。48%的病例出现了认知缺陷。痴呆（28%）常伴有步态障碍（90%）、尿失禁（86%）和假性球麻痹（52%）。39例患者（38%）有偏头痛病史（发病平均年龄26.0岁；标准差8.2岁），其中87%的病例被归类为有先兆偏头痛。30%的病例存在精神障碍，最常见的诊断为适应障碍（24%）。10例患者（10%）有癫痫发作史。为了描述缺血性缺陷的功能后果，我们研究了不同年龄组的残疾程度。45岁以上的所有年龄组均出现了完整的残疾谱。60岁以上的患者中，55%在没有帮助的情况下无法行走。然而，该年龄组中有14%的患者完全没有残疾。Kaplan-Meier分析显示男性的中位生存时间为64岁，女性为69岁。对18个多病例家庭的调查显示，家庭内部存在显著差异。
