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PubMed2003

Familial occurrence of inflammatory bowel disease in celiac disease.

BACKGROUND: The authors have previously reported a possible increased risk of the familial occurrence of Crohn's disease in patients with celiac disease. AIM: The aim of the current study was to evaluate in a case-control study the familial occurrence of inflammatory bowel disease (IBD) in first-degree relatives of patients with celiac disease. METHODS: One hundred eleven consecutive patients with biopsy-proven celiac disease were interviewed to ascertain whether IBD was present in first-degree relatives. The number of relatives, their ages, and possible IBD status were collected in a questionnaire. When a diagnosis of familial IBD was reported, the diagnosis was checked in the hospital records. Two hundred twenty-two controls matched for age and sex (111 from the general population and 111 from orthopedic wards) were also interviewed regarding the possible occurrence of IBD in first-degree relatives. The chi2 test was used to evaluate the difference in proportion of familial occurrence of IBD among individuals with celiac disease and controls. RESULTS: Among 600 first-degree relatives of patients with celiac disease, 10 cases of IBD were identified among first-degree relatives (7 cases of ulcerative colitis and 3 cases of Crohn's disease), whereas only 1 case of IBD was identified among the 1,196 first-degree relatives of control patients (p < 0.01). When ulcerative colitis and Crohn's disease were analyzed separately, only the prevalence of ulcerative colitis was statistically significant (p </= 0.02). CONCLUSIONS: This case-control study shows that there is a significantly increased prevalence of familial ulcerative colitis in patients with celiac disease. There was no significant increase in the prevalence of Crohn's disease in patients with celiac disease. The possible role of this association is discussed.

Adult↗
PubMed2000

Development and evaluation of the Liver Disease Quality of Life instrument in persons with advanced, chronic liver disease--the LDQOL 1.0.

OBJECTIVES: Assessment of health-related quality of life (HRQOL) outcomes in studies of liver disease and liver transplantation is necessary. Reliable and valid disease-targeted HRQOL measures are thus needed. The objective of this study was to develop a reliable and valid self-report HRQOL instrument for ambulatory adults with chronic liver disease. METHODS: The Liver Disease Quality of Life instrument, LDQOL 1.0 (an HRQOL measure that uses the SF-36 as a generic core and 12 disease-targeted multi-item scales) was administered in a multicenter, cross-sectional field test to 221 ambulatory adults with advanced, chronic liver disease referred for primary liver transplantation evaluation. Disease-targeted scales included liver disease-related symptoms, liver disease-related effects on activities of daily living, concentration, memory, sexual functioning, sexual problems, sleep, loneliness, hopelessness, quality of social interaction, health distress, and self-perceived stigma of liver disease. We estimated the internal consistency reliability (Cronbach's alpha) for multi-item scales and construct validity. RESULTS: Interial consistency reliability coefficients were excellent, ranging from 0.62 to 0.95, with 19 of 20 scales >0.70. Multitrait scaling analysis provided strong support for item discrimination across scales, and exploratory factor analysis demonstrated distinguishable physical, mental, and social health dimensions. Significant associations were found between worse HRQOL and worse Child-Pugh class, worse self-rated liver disease severity, and increased number of disability days. CONCLUSIONS: The results of this multicenter field test provide support for the reliability and validity of the LDQOL 1.0 as an HRQOL outcome measure for individuals with chronic liver disease.

Chronic Disease↗
PubMed2001

The prevalence of extraintestinal diseases in inflammatory bowel disease: a population-based study.

OBJECTIVE: The aim of this study was to determine the prevalence of the major extraintestinal manifestations of inflammatory bowel disease (IBD) and their relation to disease diagnosis and gender. METHODS: We used the population-based University of Manitoba IBD Database, which includes longitudinal files on all subjects of all health system contacts identified by International Classification of Diseases, 9th Revision, Clinical Modification codes for visit diagnosis. We extracted a cohort from our database, which included subjects with a known diagnosis of IBD for at least 10 yr. We then determined how many contacts each subject had for each of the following extraintestinal IBD-associated immune diseases: primary sclerosing cholangitis, ankylosing spondylitis, iritis/uveitis, pyoderma gangrenosum, and erythema nodosum. We calculated the prevalence of the extraintestinal diseases using an administrative definition of having at least five health system contacts for the diagnosis in question. This administrative definition has previously been validated in Crohn's disease and ulcerative colitis (UC). RESULTS: A total of 6.2% of patients with IBD had one of six major extraintestinal diseases studied in this report. Only 0.3% of patients had multiple extraintestinal diseases. Iritis/uveitis was the most common extraintestinal disease of all assessed (2.2% of women and 1.1% of men). Iritis/uveitis was more common among women, particularly those with UC (3.8%). Primary sclerosing cholangitis was most common among men with UC (3%). Ankylosing spondylitis was more common among men, and the highest rate was seen among men with Crohn's disease (2.7%). Pyoderma gangrenosum was more common in Crohn's (1.2%) with no gender predilection. Erythema nodosum was similarly present in Crohn's and UC but was more common among women (1.9%). CONCLUSIONS: The associations of immune mediated diseases in extraintestinal sites may help us to further our understanding of IBD pathogenesis, and it may help us in developing a paradigm of disease subsets.

Adult↗
PubMed2002

Responses to donepezil in Alzheimer's disease and Parkinson's disease.

Alzheimer's disease is the most common cause of dementia, but Parkinson's disease also shows dementia in the later stages. Donepezil is a cholinesterase inhibitor used for the treatment of Alzheimer's disease. Variable responses to this drug suggest that Alzheimer's disease is clinically heterogeneous. In the clinical trial of tacrine, a first developed cholinesterase inhibitor, three cases markedly improved and, several years later, they were pathologically confirmed as dementia with Lewy bodies (DLB). In recent years, another cholinesterase inhibitor, rivastigmine, has also been reported to be effective for patients with DLB by a placebo-controlled, double-blind, multicenter study. Parkinson's disease with dementia, which is known to fulfill the pathological criteria of DLB, also shows a favorable response to donepezil. In some cases, not only does cognitive function improve, but also parkinsonism. Both DLB and Parkinson's disease with dementia show characteristic CBF patterns: While the parietal and temporal lobes are involved in Alzheimer's disease, the occipital lobe is additionally affected in these diseases. Alzheimer's disease and Parkinson's disease have been considered discrete disease entities. However, viewed from the aspects of response to donepezil treatment and CBF patterns, both diseases overlapped. A brain SPECT may be a useful tool to detect such treatable conditions.

Alzheimer Disease↗
PubMed1993

Dental disease and risk of coronary heart disease and mortality.

OBJECTIVE: To investigate a reported association between dental disease and risk of coronary heart disease. SETTING: National sample of American adults who participated in a health examination survey in the early 1970s. DESIGN: Prospective cohort study in which participants underwent a standard dental examination at baseline and were followed up to 1987. Proportional hazards analysis was used to estimate relative risks adjusted for several covariates. MAIN OUTCOME MEASURES: Incidence of mortality or admission to hospital because of coronary heart disease; total mortality. RESULTS: Among all 9760 subjects included in the analysis those with periodontitis had a 25% increased risk of coronary heart disease relative to those with minimal periodontal disease. Poor oral hygiene, determined by the extent of dental debris and calculus, was also associated with an increased incidence of coronary heart disease. In men younger than 50 years at baseline periodontal disease was a stronger risk factor for coronary heart disease; men with periodontitis had a relative risk of 1.72. Both periodontal disease and poor oral hygiene showed stronger associations with total mortality than with coronary heart disease. CONCLUSION: Dental disease is associated with an increased risk of coronary heart disease, particularly in young men. Whether this is a causal association is unclear. Dental health may be a more general indicator of personal hygiene and possibly health care practices.

Adult↗
PubMed1993

Quantification of disease activity in Crohn's disease by computer analysis of Tc-99m hexamethyl propylene amine oxime (HMPAO) labelled leucocyte images.

The reliability and clinical applications of computerised image analysis measurement of bowel uptake of Tc-99m HMPAO labelled leucocytes has been examined as a measure of disease activity in Crohn's disease. In 54 studies carried out on 33 patients with established Crohn's disease, the mean 'scan score', a quantitative assessment of image intensity, was 82.1 SEM (13.6), in patients with clinically active disease compared to 24.7 (7.0) in those with quiescent disease, p < or = 0.0005. A significant correlation was found between the scan score and Crohn's Disease Activity Index (rs = 0.52, p < 0.0001), and Harvey and Bradshaw Simple Index (rs = 0.4, p < 0.004). A low scan score correctly identified seven patients whose raised Crohn's Disease Activity Index incorrectly indicated active disease because symptoms used in calculation of the index were not caused by active inflammation. Of the laboratory measurements, the scan score correlated with the haemoglobin (rs = 0.66, p < 0.0001), albumin level (rs = -0.6, p < 0.0001), C-reactive protein (rs = 0.7, p < 0.0001), alpha-acid glycoprotein (rs = 0.57, p < 0.001), and platelet count (rs = 0.47, p < or = 0.006), but not with the erythrocyte sedimentation rate (rs = 0.2, p < or = 0.25). The scan score was raised in all patients who had clinically active disease but normal laboratory tests. The results of this study indicate that the scan score provides an objective indicator of disease activity in Crohn's disease which may be superior to clinical indices, and also to laboratory tests which although objective are often normal in the presence of active disease.

Acute Disease↗
PubMed1996

Neuropsychological and psychiatric differences between Alzheimer's disease and Parkinson's disease with dementia.

OBJECTIVE: To examine neuropsychological and neuropsychiatric differences between patients with probable Alzheimer's disease and patients with Parkinson's disease and dementia. METHODS: Thirty three patients with probable Alzheimer's disease and 33 patients with Parkinson's disease and dementia were matched for age, sex, and mini mental state examination scores and given a battery of neuropsychological and neuropsychiatric tests. RESULTS: Patients with Parkinson's disease with dementia had a significantly higher prevalence of major depression than patients with Alzheimer's disease; patients with Alzheimer's disease showed more severe anosognosia and disinhibition than patients with Parkinson's disease. Whereas no significant between group differences were found on tests of memory and language, demented patients with Parkinson's disease had a significantly greater impairment on a test of visual reasoning than patients with Alzheimer's disease. CONCLUSION: There were significant psychiatric differences between patients with Alzheimer's disease and demented patients with Parkinson's disease, but neuropsychological differences were restricted to a single cognitive domain.

Aged↗
PubMed2004

Increased arterial stiffness is independently related to cerebrovascular disease and aneurysms of the abdominal aorta: the Second Manifestations of Arterial Disease (SMART) Study.

BACKGROUND: Arterial stiffness is a risk factor for stroke and myocardial infarction. We investigated whether carotid arterial stiffness is related to other localizations of manifest arterial disease. METHODS: Carotid artery stiffness was measured by ultrasonography as the change in diameter in systole relative to the diastolic diameter in patients enrolled in the Second Manifestations of Arterial Disease (SMART) Study, a cohort study among patients with manifest cardiovascular disease or cardiovascular risk factors. The first consecutive 1561 patients with manifest cardiovascular disease were classified in 4 categories: cerebrovascular disease, coronary artery disease, peripheral artery disease, or aneurysm of the abdominal aorta (AAA). Differences in arterial stiffness among the categories were studied by linear regression analyses. Patients with coronary artery disease as single diagnosis (n=482) served as reference group. RESULTS: Patients with cerebrovascular disease (arterial distension -42.0 microm [95% CI, -57.2 to -26.8]) and those with an AAA (-64.4 microm [95% CI, -84.8 to -44.0]) had an increased carotid stiffness compared with the reference group. Adjustment for confounders attenuated the relations, which remained statistically significant (-34.2 microm [95% CI, -47.8 to -20.7] and -33.2 microm [95% CI, -51.8 to -14.6], respectively). CONCLUSIONS: Our study suggests that increased arterial stiffness is important in the pathophysiology of especially cerebrovascular disease and AAA. That the differences in arterial stiffness between disease categories attenuated after adjustment for important risk factors but remained significant suggests that besides being an element in the causal pathway, arterial stiffness is also a risk factor for cardiovascular disease itself.

Adult↗
PubMed2000

The future of clinical trials in chronic renal disease: outcome of an NIH/FDA/Physician Specialist Conference. Evaluation of Clinical Trial Endpoints in Chronic Renal Disease Study Group.

For people with chronic renal insufficiency, the therapeutic goal is to prevent progression to end-stage renal disease, a serious condition that can only be treated with dialysis and kidney transplantation. Although restriction of dietary protein slows the progression of renal disease somewhat, the principal treatment to slow chronic renal disease is appropriate reduction of blood pressure. Antihypertensive agents, particularly those that produce sustained, long-term reductions in proteinuria, such as angiotensin-converting enzyme inhibitors, not only decrease blood pressure but also preserve renal function. Clinical trials to evaluate these and other drug therapies in renal disease progression have used both "hard end points" (e.g., dialysis, transplantation, death) and intermediate end points of renal disease progression (e.g., doubling of serum creatinine concentration, reductions in proteinuria). Trials that have used hard end points typically recruited patients with advanced renal disease to demonstrate a difference in therapies within a period of 2 to 5 years. However, proteinuria reduction, along with a decrease in the time to doubling of serum creatinine in very early diabetic renal disease, could demonstrate an altered natural history of renal disease. Although hard end points are indicators of a drug's efficacy in reducing cardiovascular events or preserving renal function, they do not assess the impact of a treatment on altering the natural history of early renal disease. For clinical trials of people with all but the most advanced renal disease, use of intermediate end points of renal disease progression is the only practical option for assessment of treatment efficacy and effectiveness. Given the available data on proteinuria reduction and doubling of serum creatinine from clinical trials, these end points, taken together, appear to provide an acceptable means of assessing a treatment's impact on slowing renal disease progression.

Antihypertensive Agents↗
PubMed2006

Interventions for heart disease and their effects on Alzheimer's disease.

OBJECTIVES: To review the contributions of cardiovascular disease to Alzheimer's disease and vascular dementia. METHODS: Review of the literature. RESULTS: Alzheimer's disease and vascular dementia both share significant risk attributable to cardiovascular risk factors. Hypertension and hypercholesterolemia at midlife are significant risk factors for both subsequent dementia. Diabetes and obesity are also risk factors for dementia. Stressful medical procedures, such as coronary artery bypass and graft operations also appear to contribute to the risk of Alzheimer's disease. Apolipoprotein E is the major risk factor for Alzheimer's disease. Apolipoprotein E does not appear to contribute to Alzheimer's disease by increasing serum cholesterol, but it might contribute to the disease through a mechanism involving both Abeta and an increase in neuronal vulnerability to stress. DISCUSSION: The strong association of cardiovascular risk factors with Alzheimer's disease and vascular dementia suggest that these diseases share some biologic pathways in common. The contribution of cardiovascular disease to Alzheimer's disease and vascular dementia suggest that cardiovascular therapies might prove useful in treating or preventing dementia. Antihypertensive medications appear to be beneficial in preventing vascular dementia. Statins might be beneficial in preventing the progression of dementia in subjects with Alzheimer's disease.

Alzheimer Disease↗
PubMed2004

The elusive baseline of marine disease: are diseases in ocean ecosystems increasing?

Disease outbreaks alter the structure and function of marine ecosystems, directly affecting vertebrates (mammals, turtles, fish), invertebrates (corals, crustaceans, echinoderms), and plants (seagrasses). Previous studies suggest a recent increase in marine disease. However, lack of baseline data in most communities prevents a direct test of this hypothesis. We developed a proxy to evaluate a prediction of the increasing disease hypothesis: the proportion of scientific publications reporting disease increased in recent decades. This represents, to our knowledge, the first quantitative use of normalized trends in the literature to investigate an ecological hypothesis. We searched a literature database for reports of parasites and disease (hereafter "disease") in nine marine taxonomic groups from 1970 to 2001. Reports, normalized for research effort, increased in turtles, corals, mammals, urchins, and molluscs. No significant trends were detected for seagrasses, decapods, or sharks/rays (though disease occurred in these groups). Counter to the prediction, disease reports decreased in fishes. Formulating effective resource management policy requires understanding the basis and timing of marine disease events. Why disease outbreaks increased in some groups but not in others should be a priority for future investigation. The increase in several groups lends urgency to understanding disease dynamics, particularly since few viable options currently exist to mitigate disease in the oceans.

Animal Diseases↗
PubMed2002

Periodontal disease and cardiovascular disease: epidemiology and possible mechanisms.

BACKGROUND: Many early epidemiologic studies reported an association between periodontal disease and cardiovascular disease. However, other studies found no association or nonsignificant trends. This report summarizes the evidence from epidemiologic studies and studies that focused on potential contributing mechanisms to provide a more complete picture of the association between periodontal and heart disease. TYPES OF STUDIES REVIEWED: The authors summarize the longitudinal studies reported to date, because they represent the highest level of evidence available regarding the connection between periodontal disease and heart disease. The authors also review many of the case-control and cross-sectional studies published, as well as findings from clinical, animal and basic laboratory studies. RESULTS: The evidence suggests a moderate association--but not a causal relationship--between periodontal disease and heart disease. Results of some case-control studies indicate that subgingival periodontal pathogenic infection may be associated with myocardial infarction. Basic laboratory studies point to the biological plausibility of this association, since oral bacteria have been found in carotid atheromas and some oral bacteria may be associated with platelet aggregation, an event important for thrombosis. Animal studies have shown that atheroma formation can be enhanced by exposure to periodontal pathogens. CONCLUSIONS: The accumulation of epidemiologic, in vitro, clinical and animal evidence suggests that periodontal infection may be a contributing risk factor for heart disease. However, legitimate concerns have arisen about the nature of this relationship. These are early investigations. Since even a moderate risk contributed by periodontal disease to heart disease could contribute to significant morbidity and mortality, it is imperative that further studies be conducted to evaluate this relationship. One particularly important study to be carried out is the investigation of a possible clinically meaningful reduction in heart disease resulting from the prevention or treatment of periodontal disease.

Acute-Phase Reaction↗
PubMed2004

Prion disease and Alzheimer's disease: pathogenic overlap.

Prion diseases are widely recognized for their transmissibility, and it is this feature that has been studied most extensively. In recent years, public health concerns over the transmission of animal forms of prion disease, such as bovine spongiform encephalopathy and chronic wasting disease, to humans has only augmented the notion that prion diseases are primarily infectious. Yet within the spectrum of human prion diseases, often overlooked is the fact that the overwhelming majority of cases are age-dependent sporadic, or inherited processes. Closer examination of the pathophysiological processes involved in prion disease further indicates a neurodegenerative, rather than infectious disease. Indeed, the age requirement, the numerous kindreds carrying point mutations in an amyloidogenic protein, the copper binding properties of the amyloidogenic protein, the evidence of free radical damage, the presence of polymorphisms that influence disease susceptibility, the formation of amyloid plaques, and in some cases the presence of neurofibrillary pathology, are features common to both prion disease and Alzheimer's disease. Therefore, while transmissibility will continue to be a major subject of prion disease research, we suspect that further characterization of its pathophysiological mechanisms will only substantiate the notion that prion disease is fundamentally a neurodegenerative process.

Alzheimer Disease↗
PubMed2003

[Epidemiologic analysis of infectious diseases identified as occupational diseases in Poland in the years 1998-2002].

BACKGROUND: In spite of some unquestionable positive tendencies observed over the last few years, occupational infectious diseases still pose a serious problem in Poland. During the last thirty years overall as many as 41,000 cases of occupational contagious and invasive diseases were identified. METHODS AND MATERIALS: The analysis covered all cases of occupational diseases, reported by sanitary and hygiene stations on a specially designed form, to the Register of Occupational Diseases in Poland over the years 1998-2002. The analyses were performed by the disease entities, the job name, and activity sections classified according to Polish Classification of the Economy, and also by voivodeships. Crude numbers of the diseases reported and rates are presented. For the calculation of incidence rates, the statistics of the national economy employees provided by the Central Statistical Office was applied. RESULTS: In total, 4153 cases of infectious diseases were reported to the Register in 1998-2002. Viral hepatitis, tuberculosis, brucellosis and Lyme borelliosis covered (94.3%) of all cases. The analyzed diseases were identified mostly in two economic activity sections: Health and Social Works and Agriculture, Forestry and Hunting. About 63% of all cases were recorded in health care personnel, mostly in nurses, 1372 cases (33%), physicians (9.9%), laboratory workers (8.1%), orderlies (6.5%), dentists, dental assistants and dental technicians (1.9%). A substantial number of infections diseases were recorded in forestry workers (16.2), mostly foresters (10.9%). The highest rates of occupational diseases were found in the Podlaskie, Mazowieckie, Wielkopolskie, Pomorskie and Slaskie voivodships. CONCLUSIONS: At present, Lyme borelliosis and viral hepatitis pose the most serious problem of all infectious occupational diseases in Poland. Despite extensive programs of vaccination against viral hepatitis B, implemented since 1989, this pathology has not as yet been fully eradicated. It can be predicted that in the near future, viral hepatitis C and Lyme borelliosis will mostly influence the epidemiology of infectious occupational diseases in Poland. This situation will continue until relevant vaccines are developed and used in high risk occupational groups.

Communicable Diseases↗
PubMed2005

Is Parkinson's disease a homogeneous disorder--what is the burden of Parkinson's disease in India.

Movement disorders are common neurological illnesses among the elderly. These include essential tremor, Perkinsonian disorders and chorea of different aetiologies. Parkinsonian disorders can be divided into two major groups of disorders--classical idiopathic Parkinson's disease and Parkinson plus syndrome. The most common and important cause of Parkinsonism is idiopathic Parkinson's disease. Idiopathic Parkinson's disease is most confidently clinically diagnosed if we follow the United Kingdom Parkinson's Disease Society Brain Bank Diagnostic Criteria for Parkinson's disease. The most common degnerative diseases, which minic idiopathic Parkinson's disease are collectively called Parkinson plus syndrome. The most important diseases comprising Parkinson plus syndrome are: progressive supranuclear palsy, multiple system atrophy, cortical-basal ganglionic degneration, diffuse Lewy body disease and Parkinson-dementia-ALS complex. In India the prevalence of Parkinson's disease varied markedly from one study to another. The prevalence rate is high among the urban Parsi community of Mumbai. Incidence and prevalence of Parkinson's disease increase with increasing age. Some risk factors for Parkinson's disease have been narrated briefly. As the number of cases of Parkinsonism is likely to increase along with increasing population, the general practitioners or consultant physicans should have to play a greater role referring the cases to attend neurologists or movement disorder clinic early.

Aged↗
PubMed2006

Physician-estimated disease severity in patients with chronic heart or lung disease: a cross-sectional analysis.

BACKGROUND: We evaluated how well physicians' global estimates of disease severity correspond to more specific physician-rated disease variables as well as patients' self-rated health and other patient variables. METHODS: We analyzed baseline data from 1662 primary care patients with chronic cardiac or pulmonary disease who were enrolled in a longitudinal study of health-related quality of life (HRQoL). Each patient's primary physician rated overall disease severity, estimated the two-year risk of hospitalization and mortality, and reported the use of disease-specific medications, tests, and subspecialty referrals. Patient variables included sociodemographic characteristics, psychosocial factors, self-rated health, and both generic and disease-specific HRQoL. RESULTS: Physicians rated 40% of their patients "about average", 30% "worse", and 30% "better" than the typical patient seen with the specific target disorder. The physician's global estimate of disease severity was strongly associated (P < 0.001) with each of the five more specific elements of physician-rated disease severity, but only marginally associated with patient self-rated health. Multivariable regression identified a set of patient variables that explained 16.4% of the variance in physician-rated disease severity. CONCLUSION: Physicians' global ratings may provide disease severity and prognostic information unique from and complementary to patient self-rated health and HRQoL measures. The elements influencing physician-rated disease severity and its predictive validity for clinical outcomes warrant prospective investigation.

Adult↗
PubMed2026

Prion disease mimicking rapidly progressive Alzheimer disease: case series and systematic review.

BACKGROUND: Prion disease and Alzheimer disease (AD) are common causes of rapidly progressive dementia (RPD). Although most patients with prion disease are distinguished by MRI and CSF findings, selected cases mimic rapidly progressive AD. We characterized AD-prion disease mimics within a prospective cohort and the extant literature to identify the clinical features and tests that support accurate diagnoses in these patients. METHODS: Patients with prion disease initially diagnosed as rapidly progressive AD were identified from a prospective cohort study at Mayo Clinic (February 2020-June 2026) and through systematic review of MEDLINE and Embase. RESULTS: Of 204 patients with RPD, five (2.5%) were initially diagnosed with clinically probable AD but ultimately determined to have prion disease. Systematic review identified 10 additional cases (n=15, median age-at-onset, 59&#xa0;years; 67% male). Presentations reproduced amnestic (53%), dysexecutive (27%), primary progressive aphasia (13%), and posterior cortical atrophy (7%) AD phenotypes; median time from AD diagnosis to consideration of prion disease was 2&#xa0;months. Diffusion-weighted MRI abnormalities were absent in Mayo Clinic cases and absent/equivocal (n=2) or overlooked (n=8) in published cases. CSF biomarkers were consistent with AD in 6/9 tested patients, with elevated total tau levels in 11/13 patients and total-tau/p hosphorylated-tau181 ratios in 5/9 patients. Real-time quaking-induced conversion assays for prions were positive in the CSF of 9/12 patients. Prion disease was confirmed by neuropathology (n=7), genetics (n=2), or real-time quaking-induced conversion (n=6) assays. CONCLUSIONS: Prion disease may rarely mimic rapidly progressive AD. Disproportionate elevations in CSF total-tau levels or total-tau/p hosphorylated-tau181 ratios should prompt consideration of prion disease.

Humans↗