No abstract

Fatal familial insomnia (FFI) has been exclusively associated with a pathogenic mutation at codon 178 in the PRNP gene coupled with methionine (Met) at codon 129. We now describe a subject with familial Creutzfeldt-Jakob disease, heterozygous for the pathogenic lysine (Lys) mutation at codon 200 and homozygous for Met at codon 129 of the PRNP gene, who was affected by severe insomnia. At autopsy the patient had significant involvement of the thalamus, as previously described in subjects affected by FFI with the codon 178 mutation. This case demonstrates the wide variability of the clinical expressions in patients with the codon 200 mutation, that may include insomnia and thalamic pathology.

Distribution of antibodies to herpes simplex type 1 (HSV1), Epstein-Barr virus (EBV), cytomegalovirus (CMV) and measles virus (MV) was studied in sera and cerebrospinal fluids (CSF) of 41 patients with schizophrenia, 27 patients with primary affective disorders and 25 control patients with neurological diseases. No significant differences in distribution and mean geometric titers (GMT) of antibodies to HSV1 between the psychiatric and control groups were found. Distribution and GMT of antibodies to EBV were highly significant in psychiatric patients as compared to controls with highest titers in the affective disorder group. Antibodies to HSV1 were present in 15 CSF specimens of psychiatric patients with reduced CSF/serum ratio in 4, and low levels of antibodies were detected in 8 control patients. Antibodies to EBV-VCA were detected in 4 CSFs of psychiatric patients. Total protein levels were determined in CSF specimens and no correlation with antibodies was found. No significant differences in distribution of antibodies to CMV or MV in the three study groups were found. No antibodies to CMV were demonstrated in CSFs and in one specimen from a patient and two controls antibodies to MV were detected.

Although the study group was small and heterogeneous and only a small number of parameters have reached statistical significance, it seems that posturography can be helpful in the evaluation of postural stability in adult patients with epilepsy.