Neurology and Research Services, VA Medical Center, Departments of Neurology and Pathology, Albany Medical College, Albany, New York 12208, USA.
J Neurochem. 2013 Aug;126 Suppl 1(0 1):4-10. doi: 10.1111/jnc.12218.
Nikolaus Friedreich (1825-1882) presented clinical findings in six patients with a severe hereditary disorder of the nervous system and secured full autopsies in four of them. He was fascinated by the spinal cord lesions in the siblings of two unrelated families, and in the first three of his five long articles stressed the destruction of the dorsal columns. He recognized the relatively minor symmetrical lesions of the anterolateral fasciculi but did not separate dorsal spinocerebellar tracts (Flechsig's bundles) and corticospinal tracts. Although he studied the dorsal spinal roots in great detail and established their principal abnormality, namely, axonal thinning without axonal loss, he reported dorsal root ganglia as entirely normal. He made an insightful description of atrophic neurons in the gracile nuclei (clavae) but overlooked the invariable atrophy of the dentate nuclei. He followed the families over a period of 14 years, but acknowledged the hereditary nature of the disease only very late. He proposed a developmental defect for the medulla oblongata, retaining his interpretation that the spinal lesion was inflammatory. This review honors Friedreich for his insight into a 'new' disease in the late 19th century and updates his neuropathological findings. It is remarkable that Friedreich also described the abnormal hearts in the disease that now bears his name since hypertrophic cardiomyopathy is now recognized as the main cause of death in Friedreich's ataxia.
尼古拉乌斯·弗里德里希（Nikolaus Friedreich）于 1825 年至 1882 年间描述了六例严重遗传性神经系统疾病患者的临床表现，并对其中四人进行了全面尸检。他对两个无关联家族中两个兄弟姐妹的脊髓病变非常感兴趣，在他最初的五篇长篇文章中的前三篇中，重点强调了背柱的破坏。他认识到前外侧束相对较小的对称病变，但没有将背侧脊髓小脑束（弗莱希希束）和皮质脊髓束分开。尽管他详细研究了背根神经节，并确定了其主要异常，即轴突变薄而无轴突丢失，但他报告背根神经节完全正常。他对薄束核（小舌）中萎缩神经元进行了有见地的描述，但忽略了齿状核的不变性萎缩。他对这些家族进行了 14 年的随访，但直到很晚才承认该疾病的遗传性。他提出了延髓的发育缺陷，保留了他对炎症性脊髓病变的解释。这篇综述是为了纪念弗里德里希在 19 世纪后期对“新”疾病的洞察力，并更新了他的神经病理学发现。值得注意的是，弗里德里希还描述了这种现在以他的名字命名的疾病中异常的心脏，因为肥厚型心肌病现在被认为是弗里德里希共济失调症的主要死亡原因。
