Many excellent papers have been published (Blocq and Marinesco,1 Brissaud,2 Brissaud and Londe,3 Déjerine and Thòmas,4 Dumont,5 Spiller,6 Pfeiffer7 and others) on the pathologic anatomy of Friedreich's ataxia, but its histopathology has not been thoroughly studied.
Friedreich's8 original article appeared in 1863. Marie,9 thirty years later, culled from the literature sixteen ceses—of which only two contained a necropsy report—which he felt did not belong to the Friedreich group. On the basis of these cases, he established a new clinical syndrome, which he called hereditary cerebellar ataxia. He regarded the symptoms as the result of some congenital defect of the cerebellum.
Since this time, there has been much discussion as to the proper placing of particular cases. Most of the cases have shown mainly cord symptoms and cord pathology. In some, the cerebellum has been more involved (Fraser10 and Nonne11
WINKELMAN NW, ECKEL JL. HISTOPATHOLOGIC FINDINGS IN A CASE OF FRIEDREICH'S ATAXIA. Arch NeurPsych. 1925;13(1):37–46. doi:10.1001/archneurpsyc.1925.02200070040003
Customize your JAMA Network experience by selecting one or more topics from the list below.