Tokita N, Sekhar H K, Sachs M, Daly J F
Ann Otol Rhinol Laryngol Suppl. 1978 Jan-Feb;87(1 Pt 3 Suppl 46):1-12. doi: 10.1177/00034894780871s201.
Familial dysautonomia, or Riley-Day syndrome, is inherited in an autosomal recessive fashion and occurs almost exclusively in Jewish families. This disorder is characterized by a smooth tongue devoid of fungiform papillae and of taste buds, and is clinically associated with poor taste discrimination. An unsteady gait and dizziness on change in position are also common presenting symptoms. This study reports the histopathological findings of eight temporal bones from four patients with documented familial dysautonomia. For the control series, 13 normal temporal bones were also studied. The most striking finding in the dysautonomic patients was an extreme paucity of geniculate ganglion cells (P less than 0.001). A statistically significant reduction in the number of neurons was also found both in the superior and in the inferior divisions of the vestibular nerve (P less than 0.001). The paucity of the geniculate ganglion cells correlates well with the impairment of the taste in dysautonomic individuals, since the afferent fibers leaving taste buds of the anterior two-thirds of the tongue run via the chorda tympani and have their cell bodies in the geniculate ganglion. Furthermore, the reduction in the number of Scarpa's ganglion cells observed in the dysautonomic patients studied here could account for a poor response to caloric test, positional vertigo and an unsteady gait in this condition.
家族性自主神经功能异常，即 Riley - Day 综合征，以常染色体隐性方式遗传，几乎仅发生于犹太家族。该疾病的特征为舌面光滑，缺乏菌状乳头和味蕾，临床上与味觉辨别能力差相关。步态不稳以及体位改变时头晕也是常见的症状表现。本研究报告了 4 例确诊为家族性自主神经功能异常患者的 8 块颞骨的组织病理学发现。作为对照系列，还研究了 13 块正常颞骨。自主神经功能异常患者最显著的发现是膝状神经节细胞极度稀少（P < 0.001）。在前庭神经的上支和下支中也发现神经元数量有统计学意义的减少（P < 0.001）。膝状神经节细胞的稀少与自主神经功能异常个体的味觉损害密切相关，因为离开舌前三分之二味蕾的传入纤维经鼓索走行，其细胞体位于膝状神经节。此外，在此研究的自主神经功能异常患者中观察到的斯卡帕神经节细胞数量减少，可解释该病症中对冷热试验反应差、位置性眩晕和步态不稳的现象。
