The prion protein M129V polymorphism: longevity and cognitive impairment among Polish centenarians.

The PRNP gene encodes the cellular isoform of prion protein (PrP (c) ). The M129V polymorphism influences the risk of prion diseases and may modulate the rate of neurodegeneration with age. We present the first study of the polymorphism among Polish centenarians. In the control group (n = 165, ages 18 to 56 years) the observed M129V genotype frequencies agreed with those expected according to the Hardy-Weinberg equilibrium (MM, MV, VV): 43%, 44%, 13% (HWE p > 0.05). Among centenarians (n = 150, ages 100 to 107) both homozygotes were more common than expected and HWE was rejected: 46%, 37%, 17% (expected 42%, 46%, 13%; HWE p = 0.025). This finding is consistent with a higher mortality rate among heterozygotes. However, the observed allele and genotype frequencies did not differ significantly between the oldest-old and the young controls. The genotypic frequencies were not related to severe cognitive impairment among the centenarians.

APBB2 genetic polymorphisms are associated with severe cognitive impairment in centenarians.

APBB2 gene encodes for ß-amyloid precursor protein-binding family B member 2, (APBB2, FE65-like, FE65L1), an adaptor protein binding to the cytoplasmatic domain of ß-amyloid precursor protein (ßAPP). Over-expression of APBB2 promotes formation of ß-amyloid (Aß), the main constituent of senile plaques. Polymorphisms within APBB2 gene have been proposed as candidate risk factors for Alzheimer's disease. However, their association with longevity has never been investigated. Here we present the first attempt to analyze APBB2 polymorphisms in centenarians. We used a PCR-RFLP method to analyze two intronic nucleotide substitutions: hCV1558625 (rs17443013) and rs13133980. We found no differences in genotype or allele distribution between centenarians and young controls. After stratification of centenarians upon their cognitive performance, the APBB2 rs13133980 G allele was over-represented in centenarians with severe cognitive impairment compared to individuals without this disability. Also the hCV1558625-rs13133980 AG haplotype increased relative risk for severe cognitive impairment in centenarians. Our results support the concept of APBB2 polymorphism association with cognitive performance in the oldest age.

Clinical application of the Polish adaptation of the Montreal Cognitive Assessment (MoCA) test in screening for cognitive impairment.

MATERIAL AND METHODS: A group of 115 subjects (36 meeting DSM-IV criteria for Alzheimer disease (AD) [Clinical Dementia Rating (CDR) = 1], 42 meeting Petersen's criteria for MCI [CDR = 0.5], and 37 cognitively intact controls [CDR = 0]) was recruited for the study in the university-based Alzheimer out-patient clinic. All participants underwent general medical, neurological, and psychiatric examinations. The MoCA, the MMSE, CDR and the short (15-item) version of the Geriatric Depression Scale were also applied. RESULTS: Both MCI and AD groups exhibited impaired performance on MoCA compared to controls. Polish versions of the MMSE and MoCA tests were comparable in discriminating mild dementia from both MCI and control groups. The Polish version of the MoCA test performed marginally better than MMSE in discriminating MCI from controls. We propose to use the MoCA test to screen for MCI using an optimal cut-off score of 24 and to screen for dementia using a cut-off score of 19. CONCLUSIONS: The Polish version of the MoCA seems effective in the detection of deteriorated cognitive performance and appropriate for differentiating impaired from preserved cognitive function in a Polish population.

The influence of vascular risk factors on the survival rate of patients with dementia with Lewy bodies and Alzheimer disease.

BACKGROUND AND PURPOSE: The aim of this study was to determine whether dementia with Lewy bodies (DLB) progres-ses more rapidly than Alzheimer disease (AD) and to compare survival after dementia onset and mortality in both dementia groups. MATERIAL AND METHODS: A medical records analysis of AD (n = 183) and DLB (n = 51) patients was performed to determine age at onset of symptoms, the date of first presentation to the psychiatric services, dementia severity at diagnosis (MMSE score), and mean disease duration before diagnosis. Categorical data regarding vascular risk factors were collected. Projected decline rate (MMSE/year), survival rate after the diagnosis of dementia, mean survival time after diagnosis and mortality rate were calculated and compared between DLB and AD groups. RESULTS: The comparison of clinical and demographic parameters revealed no significant differences between groups, apart from a more pronounced decline rate in the DLB group. Diabetes, and to a lesser extent hypertension, influenced survival in AD, but not in DLB subjects. Overall, however, the difference in mortality rates and survival time between DLB and AD subjects cannot be attributed to the presence of any vascular risk factor analysed. DLB, independently of the presence of vascular risk factors, seems to be a more aggressive disorder than AD, when mortality and survival time are taken into account. CONCLUSIONS: More rapid progression of cognitive decline and shorter duration of dementia were found in DLB in this naturalistic study. The findings may have important implications for the management and treatment of DLB and should be confirmed in prospective studies.

The links between body dysmorphic disorder and eating disorders.

The aim of the study was to search for a body dysmorphic disorder (BDD) period preceding the symptoms meeting the criteria of either anorexia or bulimia nervosa, and an evaluation of the prevalence of BDD symptoms in a control group of girls without any eating disorder. Ninety-three girls (12-21 years old ) were included in the study (36 with anorexia nervosa, 17 with bulimia nervosa and 40 healthy controls). The Structured Clinical Interview (SCID), including the BDD module, and a novel questionnaire (for the presence of preceding life events) were used. We found the symptoms of BDD in 25% of anorexia nervosa sufferers for at least six months before observing a clear eating disorder picture. Moreover, other mental disorders were also present among these patients. The results may support the idea that BDD and anorexia nervosa both belong to either OCD or affective disorders spectra.