Craver R D, Duncan M C, Nelson J S
Department of Pathology, Louisiana State University Medical Center, New Orleans 70112, USA.
J Child Neurol. 1996 May;11(3):185-8. doi: 10.1177/088307389601100303.
Nine cases of dystonia and choreoathetosis (six females and three males) have developed in three generations of a single family. There has been one death. Neuropathologic examination disclosed bilateral striatal necrosis. In this family, the neurologic disorder has evolved gradually or in association with a febrile illness. There has been no neurologic recovery. The disease is worse in females, has been transmitted only through females, and shows incomplete penetrance and anticipation. The maternal inheritance pattern suggests either an autosomal dominant trait also affecting male reproductive ability or a defect involving the mitochondrial genome.
一个家族的三代人中出现了9例肌张力障碍和舞蹈手足徐动症患者（6名女性和3名男性）。有1人死亡。神经病理学检查发现双侧纹状体坏死。在这个家族中，神经系统疾病呈渐进性发展或与发热性疾病相关。没有神经功能恢复。该病在女性中病情更严重，仅通过女性遗传，表现为不完全外显率和遗传早现。母系遗传模式提示可能是一种也影响男性生殖能力的常染色体显性性状，或者是涉及线粒体基因组的缺陷。
