Familial Creutzfeldt-Jakob disease with extensive degeneration of white matter. Ultrastructure of peripheral nerve.

A case of Creutzfeldt-Jakob disease (CJD) in a 52-year-old man is described. At post mortem, extensive involvement of white matter was seen. A few similar cases have been reported mainly by Japanese authors. Our patients belonged to a French family in which 14 cases of CJD over three generations have been recorded. One of the patient's first cousins also had extensive white matter involvement. This is an unusual panencephalopathic form of CJD. The causes of the involvement of white matter are unknown. There was no clinical evidence of neuropathy but an electron-microscopic study of biopsied superficial peroneal nerve showed it to be present. Study of peripheral nerves is suggested for all patients with CJD.