Report of a family suffering from Friedreich's disease, peroneal muscular atrophy, and schizophrenia.

Despite the many clinical and pathological data which have accumulated about the heredo-familial ataxias, Gardner's comment on Friedreich's disease almost 50 years ago, that ". . . the chief point to bear in mind about its aetiology is the tendency it shows to run in families" (Gardner, 1906), remains true of the group today. In consequence, the knowledge to be derived from the investigation of family pedigrees assumes great importance in the study of these disorders. Unfortunately for the purpose, the heredo-familial ataxias are relatively uncommon affections of the central nervous system. Kinnier Wilson (1940) could find no more than 73 cases of Friedreich's disease among all patients attending the National Hospital, Queen's Square, from 1909 to 1925, i.e., about 0-4% of all admissions, and Sjogren was able to find only 188 cases in the records of six large Swedish clinics surveyed over at least 23 years (Sjogren, 1943). In her authoritative monograph on Friedreich's ataxia and spastic paraplegia, Julia Bell included a review of pedigrees in the world literature up till 1939 (Bell and Carmichael, 1939). She mustered 319 pedigrees in all, including 46 which were personally investigated ; of these 136 were of hereditary ataxia, 72 of spastic ataxia, 35 of hereditary and spastic ataxia combined, and 74 of spastic paraplegia, two being unclassified. Only 69 of these family trees, however, included five or more afflicted persons, and this limitation handicaps the study of the rich variety of abortive and intermediate forms of the clinical pictures encountered. This paper presents an account of a large, hitherto unpublished pedigree of one family displaying a number of neurological variants. In addition, several members of the family suffered from psychiatric disabilities; the mental state of the propositus in particular was clearly schizophrenic and of considerable interest in view of the renewed attention which has recently been paid to the association between that mental illness and Friedreich's disease. Case Histories