Fatal Familial Insomnia

Received November 24, 2005; revised December 23, 2005; accepted January 13, 2006. From the Dept. of Psychiatry, Hospital Clinico de Barcelona; Barcelona, Spain. Send correspondence and reprint requests to Dr. Pintor, Dept. of Psychiatry, Hospital Clinico de Barcelona; Barcelona, Spain. e-mail: lpintor@clinic.ub.es Copyright 2006 The Academy of Psychosomatic Medicine Fatal familial insomnia (FFI) is a prion disease first described in 1986. The main characteristics include insomnia, dysautonomia, and motor signs. In 1992, an autosomal-dominant inherited disease was proposed, consisting of a GAC-to-AAC mutation at codon 178 of the PRNP gene, causing substitution of asparagine for aspartic acid. The change in only one amino acid produces selective degeneration of anterior and dorsomedial thalamic nuclei. As in the case we describe below, psychiatric symptoms may indicate the onset of various diseases. Coordination among clinicians of different specialties and a multidisciplinary approach are necessary to make an accurate diagnosis.