Farmer T W, Wingfield M S, Lynch S A, Vogel F S, Hulette C, Katchinoff B, Jacobson P L
Department of Neurology, School of Medicine, University of North Carolina, Chapel Hill 27599-7025.
Arch Neurol. 1989 Jul;46(7):774-9. doi: 10.1001/archneur.1989.00520430068020.
Five generations of a family exhibit a unique autosomal dominant neurologic disorder characterized by the development (usually between 15 and 30 years of age) of ataxia, seizures, choreiform movements, progressive dementia, and death after 15 to 25 years of illness. Neuropathologic findings in two deceased family members revealed remarkably similar findings, including marked neuronal loss of the dentate nucleus, microcalcification of the globus pallidus, neuroaxonal dystrophy of the nucleus gracilis, and demyelination of the centrum semiovale. The clinical and pathologic findings are closely correlated. Ataxia and chorea are related to severe neuronal loss in the dentate nucleus with calcification in the globus pallidus. Dementia occurs with progressive demyelination of the centrum semiovale, and loss of posterior column function occurs with neuroaxonal dystrophy of the nucleus gracilis and nucleus cuneatus.
一个家族的五代人患有一种独特的常染色体显性神经疾病，其特征为（通常在15至30岁之间）出现共济失调、癫痫发作、舞蹈样动作、进行性痴呆，患病15至25年后死亡。两名已故家族成员的神经病理学检查结果显示出非常相似的情况，包括齿状核明显的神经元丢失、苍白球微钙化、薄束核神经轴突营养不良以及半卵圆中心脱髓鞘。临床和病理表现密切相关。共济失调和舞蹈样动作与齿状核严重的神经元丢失以及苍白球钙化有关。痴呆随着半卵圆中心的进行性脱髓鞘而出现，而后柱功能丧失则与薄束核和楔束核的神经轴突营养不良有关。
