Rothschild H, Happel L, Rampp D, Hackett E
Clin Genet. 1979 Apr;15(4):356-60. doi: 10.1111/j.1399-0004.1979.tb01746.x.
Neurological evaluation of a family living in rural Louisiana showed that six living members have splasticity, hyperactive stretch reflexes, and pathological reflexes. Ten deceased family members had been similarly affected. All affected persons were offspring of consanguineous marriages, and sex distribution was equal, indicating that inheritance was autosomal recessive. Although undetected clinically, conduction abnormalities suggestive of demyelination in the visual pathways were revealed by special tests.
对居住在路易斯安那州农村的一个家庭进行的神经学评估显示，该家庭六名在世成员存在痉挛、亢进的牵张反射和病理反射。十名已故家庭成员也有类似症状。所有患者均为近亲结婚的后代，且性别分布均衡，这表明该病的遗传方式为常染色体隐性遗传。尽管临床检查未发现异常，但特殊检查显示视觉通路存在提示脱髓鞘的传导异常。
