Archive for November 13th, 2008

Progranulin mutation causes frontotemporal dementia in the Swedish Karolinska family

Thursday, November 13th, 2008

Abstract: Background: Frontotemporal dementia (FTD) is a neurodegenerative disease characterized by cognitive impairment, language dysfunction, and/or changes in personality. Recently it has been shown that progranulin (GRN) mutations can cause FTD as well as other neurodegenerative phenotypes.Methods: DNA from 30 family members, of whom seven were diagnosed with FTD, in the Karolinska family was available for GRN sequencing. Fibroblast cell mRNA from one affected family member and six control individuals was available for relative quantitative real-time polymerase chain reaction to investigate the effect of the mutation. Furthermore, the cDNA of an affected individual was sequenced.Results: Clinical and neuropathologic findings of a previously undescribed family branch are presented. A frameshift mutation in GRN (g.102delC) was detected in all affected family members and absent in four unaffected family members older than 70 years. Real-time polymerase chain reaction data showed an ?50% reduction of GRN fibroblast mRNA in an affected individual. The mutated mRNA transcripts were undetectable by cDNA sequencing.Conclusions: Segregation and RNA analyses showed that the g.102delC mutation, previously reported, causes FTD in the Karolinska family. Our findings add further support to the significance of GRN in FTD etiology and the presence of modifying genes, which emphasize the need for further studies into the mechanisms of clinical heterogeneity. However, the results already call for attention to the complexity of predictive genetic testing of GRN mutations.

More: continued here

White matter integrity linked to functional impairments in aging and early Alzheimer’s disease

Thursday, November 13th, 2008

Abstract: Background: Alzheimer’s disease (AD) is associated with changes in cerebral white matter (WM), but the functional significance of such findings is not yet established. We hypothesized that diffusion tensor imaging (DTI) might reveal links between regional WM changes and specific neuropsychologically and psychophysically defined impairments in early AD.Methods: Older adult control subjects (OA, n = 18) and mildly impaired AD patients (n = 14) underwent neuropsychological and visual perceptual testing along with DTI of cerebral WM. DTI yielded factional anisotropy (FA) and mean diffusivity (?D?) maps for nine regions of interest in three brain regions that were then compared with the performance measures.Results: AD patients exhibited nonsignificant trends toward lower FAs in the posterior region’s callosal and subcortical regions of interest. However, posterior callosal FA was significantly correlated with verbal fluency and figural memory impairments, whereas posterior subcortical FA was correlated with delayed verbal memory, figural memory, and optic flow perceptual impairments.Conclusions: WM changes in early AD are concentrated in posterior cerebral areas, with distributions that correspond to specific functional impairments. DTI can be used to assess regional pathology related to individual’s deficits in early AD.

More: continued here

Gout May Protect Against Parkinson’s Disease

Thursday, November 13th, 2008

Gout is associated with a decreased risk of Parkinson’s disease and may have a protective role against the disease, according to research published Nov. 15 in Arthritis Care & Research.

More: continued here

Identification Of New Biomarker For Heart Failure

Thursday, November 13th, 2008

Blood levels of resistin, a hormone produced by fat cells, can independently predict an individual’s risk of heart failure, cardiologists at Emory University School of Medicine have found. Their findings were presented Nov. 12 at the American Heart Association Scientific Sessions conference in New Orleans.

More: continued here
Powered by SmartRSS

Can the rDNA methylation pattern be used as a marker for Alzheimer’s disease?

Thursday, November 13th, 2008

Abstract: Background: Differential methylation activity of the human rDNA in Alzheimer’s disease (AD) patients has been demonstrated by classic cytogenetic tools, indicating a decrease in rRNA gene expression. Methylation of CpGs is an important epigenetic mechanism involved in gene expression repression of tandem repeating genes during ageing. Thus, rDNA specific methylation pattern could be involved in AD and be used as a marker of the disease or of its progression.Methods: The methylation pattern of three rDNA regions, including the promoter, 18S, and 28S, was investigated with the use of restriction endonucleases sensitive to methylation and Southern blotting from DNA extracted from total peripheral blood cells of 28 AD patients and 28 elderly and young controls.Results: We did not find a significant divergence in the methylation pattern of the studied regions and in the relative amount of rDNA methylated copies among the individuals’ groups.Conclusions: No differential methylation pattern of rDNA genes was observed in total peripheral blood cells in aged and AD subjects by the methodology used.

More: continued here

Support For Elderly In Malawi Declining Because Of HIV/AIDS, Poverty, Government Report Says

Thursday, November 13th, 2008

A recent government report — titled Social Protection and Ageing in Malawi and conducted by Zifa Kazeze, formerly of the

More: continued here

Unobtrusive assessment of activity patterns associated with mild cognitive impairment

Thursday, November 13th, 2008

Abstract: Background: Timely detection of early cognitive impairment is difficult. Measures taken in the clinic reflect a single snapshot of performance that might be confounded by the increased variability typical in aging and disease. We evaluated the use of continuous, long-term, and unobtrusive in-home monitoring to assess neurologic function in healthy and cognitively impaired elders.Methods: Fourteen older adults 65 years and older living independently in the community were monitored in their homes by using an unobtrusive sensor system. Measures of walking speed and amount of activity in the home were obtained. Wavelet analysis was used to examine variance in activity at multiple time scales.Results: More than 108,000 person-hours of continuous activity data were collected during periods as long as 418 days (mean, 315 ± 82 days). The coefficient of variation in the median walking speed was twice as high in the mild cognitive impairment (MCI) group (0.147 ± 0.074) as compared with the healthy group (0.079 ± 0.027; t11 = 2.266, P < .03). Furthermore, the 24-hour wavelet variance was greater in the MCI group (MCI, 4.07 ± 0.14; healthy elderly, 3.79 ± 0.23; F = 7.58, P ? .008), indicating that the day-to-day pattern of activity of subjects in the MCI group was more variable than that of the cognitively healthy controls.Conclusions: The results not only demonstrate the feasibility of these methods but also suggest clear potential advantages to this new methodology. This approach might provide an improved means of detecting the earliest transition to MCI compared with conventional episodic testing in a clinic environment.

More: continued here

Too Little Sleep Adds to Risks of Hypertension (Time.com)

Thursday, November 13th, 2008

Two brokers take a nap on the trading floor as the Indonesia Stock Exchange in October 2008. Cutting back on sleep could increase the risk of heart disease, a study published Monday found.(AFP/File/Adek Berry)Time.com - A new study says that elderly short sleepers with high blood pressure are at particular risk for heart attack and stroke


More: continued here

The Prevalence and Malignancy of Alzheimer Disease: A Major Killer

Thursday, November 13th, 2008

An accompanying letter to the editor (p 304) provides another illustration of the malignancy of Alzheimer disease, a phenomenon well known to neurologists. Katzman and Karasu estimate that the senile form of Alzheimer disease may rank as the fourth or fifth most common cause of death in the United States. Yet the US vital statistics tables do not list “Alzheimer disease,” “senile dementia,” or “senility” as a cause of death, even in the extended list of 263 causes of death.

More: continued here
Powered by SmartRSS

Comment on administration and scoring of the Neuropsychiatric Inventory in clinical trials

Thursday, November 13th, 2008

Abstract: Background: The Neuropsychiatric Inventory (NPI) is commonly used in dementia trials to quantify and qualitate changes in psychiatric symptoms.Methods: A questionnaire was administered to clinical trial raters to assess whether they were being trained to administer and score the NPI differently between clinical trial protocols.Results: Responses to the survey indicated that there are differences between clinical trials protocols in how the instrument is administered and scored.Discussion: Clarification of administration and scoring rules are provided, including the behavioral sampling period, whether premorbid characteristics are considered, and what behaviors are considered in rating frequency, severity, and caregiver distress.

More: continued here