Schwankhaus J D, Parisi J E, Gulledge W R, Chin L, Currier R D
Veterans Administration Outpatient Clinic, Texas Tech University Health Sciences Center, Lubbock, USA.
Neurology. 1995 Dec;45(12):2266-71. doi: 10.1212/wnl.45.12.2266.
We describe a progressive neurologic disorder in three sisters characterized clinically by palatal myoclonus, spastic weakness, hyperreflexia, mild cerebellar dysfunction, and ocular motor abnormalities. Postmortem examination of one patient demonstrated widespread Rosenthal fiber deposition associated with demyelination. The father previously was reported to have similar pathologic findings and carried a clinical diagnosis of multiple sclerosis. These clinical and pathologic findings describe a rare familial leukodystrophy that corresponds most closely to cases reported as adult Alexander's disease. Although similar pathologically to the well-characterized infantile variant of Alexander's disease, it is not known whether this adult variant represents the same disease process.
我们描述了三姐妹患有的一种进行性神经疾病，其临床特征为腭肌阵挛、痉挛性肌无力、反射亢进、轻度小脑功能障碍和眼球运动异常。对其中一名患者的尸检显示，广泛的罗森塔尔纤维沉积与脱髓鞘有关。据报道，父亲有类似的病理发现，并临床诊断为多发性硬化症。这些临床和病理发现描述了一种罕见的家族性脑白质营养不良，与报告的成人亚历山大病病例最为相符。尽管在病理上与特征明确的婴儿型亚历山大病相似，但尚不清楚这种成人型是否代表相同的疾病过程。
