Phenotypic variability in familial prion diseases due to the D178N mutation.

Background: Between January 1993 and December 2003, 19 patients with familial prion diseases due to the D178N mutation were referred to the regional epidemiological registry for spongiform encephalopathies in the Basque Country in Spain, a small community of some 2,100,000 inhabitants.

Methods: Ten further patients belonging to the same pedigrees were retrospectively ascertained through neurological or neuropathological records. In four of the patients, the diagnosis was confirmed by analysing DNA obtained from paraffin blocks.

Ancestral origins of the prion protein gene D178N mutation in the Basque Country.

Fatal familial insomnia (FFI) and familial Creutzfeldt-Jakob disease (fCJD) are familial prion diseases with autosomal dominant inheritance of the D178N mutation. FFI has been reported in at least 27 pedigrees around the world. Twelve apparently unrelated FFI and fCJD pedigrees with the characteristic D178N mutation have been reported in the Prion Diseases Registry of the Basque Country since 1993.

Familial prion diseases in the Basque Country (Spain).

In 1995, a surveillance system for prion diseases was set up in the Basque Country, an autonomous region in northern Spain (2.1 million inhabitants). In the period from January 1993 to December 2003, we diagnosed 21 patients with familial prion diseases prospectively and another 4 patients retrospectively.

Evaluation of functional improvement in older patients with cognitive impairment, depression and/or delirium admitted to a geriatric convalescence hospitalization unit.

Cognitive impairment, depression and delirium are problems of high prevalence in older patients. The geriatric convalescence unit (GCU) is a hospitalization facility offering an interdisciplinary geriatric intervention program that may be more appropriate for these patients. This study intended to analyze the functional improvement (FI) in older patients with cognitive impairment, depression and/or delirium admitted to a GCU.