Polymorphism at codon 129 of PRNP affects the phenotypic expression of Creutzfeldt-Jakob disease linked to E200K mutation.

Recently, Hainfellner and colleagues1 reported on a novel phenotype of familial Creutzfeldt-Jakob disease (CJD) asso- ciated with the E200K mutation in the prion protein gene (PRNP) in coupling with valine at codon 129. At difference with the E200K mutation coupled with methionine 129, which is characterized by diffuse PrPres immunoreactivity at the histological examination of the brain and type 1 PrPres immunoreactivity pattern on immunoblot,2 E200K-129V exhibited plaque-like and type 2 immunoreactivity, support- ing the view that the genotype at codon 129 of the mutated PRNP allele influences disease phenotype. We have recently observed another CJD patient carrying the E200K-129V haplotype, but heterozygous at codon 129. Comparison be- tween this and Hainfellner\u2019s case allows an evaluation of the role of codon 129 genotype of the normal allele in disease expression

How do persons with dementia participate in decision making related to health and daily care? A multi-case study

Background Many countries have passed laws giving patients the right to participate in decisions about health care. People with dementia cannot be assumed to be incapable of making decisions on their diagnosis alone as they may have retained cognitive abilities. The purpose of this study was to gain a better understanding of how persons with dementia participated in making decisions about health care and how their family carers and professional caregivers influenced decision making. Methods This Norwegian study had a qualitative multi-case design. The triad in each of the ten cases consisted of the person with dementia, the family carer and the professional caregiver, in all 30 participants. Inclusion criteria for the persons with dementia were: (1) 67 years or older (2) diagnosed with dementia (3) Clinical Dementia Rating score 2, moderate dementia; (3) able to communicate verbally. The family carers and professional caregivers were then asked to participate. A semi-structured interview guide was used in interviews with family carers and professional caregivers. Field notes were written after participant observation of interactions between persons with dementia and professional caregivers during morning care or activities at a day centre. How the professional caregivers facilitated decision making was the focus of the observations that varied in length from 30 to 90 minutes. The data were analyzed using framework analysis combined with a hermeneutical interpretive approach. Results Professional caregivers based their assessment of mental competence on experience and not on standardized tests. Persons with dementia demonstrated variability in how they participated in decision making. Pseudo-autonomous decision making and delegating decision making were new categories that emerged. Autonomous decision making did occur but shared decision making was the most typical pattern. Reduced mental capacity, lack of available choices or not being given the opportunity to participate led to non-involvement. Not all decisions were based on logic; personal values and relationships were also considered. Conclusions Persons with moderate dementia demonstrated variability in how they participated in decision making. Optimal involvement was facilitated by positioning them as capable of influencing decisions, assessing decision-specific competence, clarifying values and understanding the significance of relationships and context

Distinct attitudes of professionals from different medical specialties toward autonomy and legal instruments in the assessment of patients with Alzheimer's disease

The evaluation of competence of Alzheimer's disease (AD) patients to assume personal or collective responsibilities and the resulting legal implications is a relevant issue. Objectives: The aim of this study was to evaluate the attitudes of different medical specialists towards the disability of patients with Alzheimer's disease and practitioners' competence to interfere with decision-making autonomy. Methods: Professionals from different areas (Neurology, Psychiatry, Geriatrics, and General Practice) were interviewed by one of the authors, after being presented a fictitious clinical case which raised several topics, namely: [1] Critical judgment and capacity of the patient to take decisions related to daily activities; [2] The role of family physicians in nominating trustees and caregivers. Results: Answers to the first question did not differ regarding degree of preservation of awareness but at least 25% stressed that the patient must be carefully listened to, independent of caregiver or legal representative opinion. There were significant knowledge gaps in responses to the second question. Half of the physicians interviewed did not have adequate information about the legal aspects of caring for patients with Alzheimer's disease. Conclusions: Legal aspects is a topic that must be incorporated into professional training in order to improve attitudes toward the long-term management of patients with dementia