Biomedical subjects

Esther Kahana

Publications and source records attributed to Esther Kahana.

12 recordsLinked to original sources

PubMed2006

The imaging appearance of Creutzfeldt-Jakob disease caused by the E200K mutation.

The E200K mutation on chromosome 20 can cause familial Creutzfeldt-Jakob disease (CJD). Patients with this mutation are clinically similar to those with sporadic CJD, but their imaging features are not well documented. We report here the quantitative and qualitative evaluation of the magnetic resonance (MR) imaging characteristics of this unique group of patients using three-dimensional spoiled gradient recalled (SPGR) echo images, diffusion-weighted imaging (DWI) with apparent diffusion coefficient (ADC) measurements, MR spectroscopy and a fluid-attenuated inversion recovery (FLAIR) sequence. The SPGR and ADC data were analyzed with SPM99. ANCOVA and regression models were used for a region-of-interest (ROI) analysis of ADC and metabolic ratios. CJD patients had a decreased fraction of gray matter and an increased fraction of cerebrospinal fluid (P=.001) in the cortex and cerebellum and increased ADC values in the cortex (P<.001). Focal decreases of ADC were found in the putamen via ROI analysis (548+/-83 vs. 709+/-9 microm(2)/s, P=.02). N-acetyl aspartate (NAA) was generally reduced, with the NAA/Cho ratio lowest in the cingulate gyrus. Qualitative assessment revealed hyperintensities on FLAIR, DWI or both in the putamen (three out of four patients), caudate (three out of four patients) and thalamus. These results provide a framework for future study of patients with genetically defined familial CJD.

Brain↗

PubMed2006

Multiple sclerosis frequency in Israel's diverse populations.

BACKGROUND: Israel has served for almost half a century as a site for epidemiologic studies of multiple sclerosis (MS). Its small geographic size, well-equipped, accessible, and subsidized health facilities, trained physicians, detailed census data, and a National MS Register, maintained since 1960, offer advantages for accurate determinations of MS frequency in its diverse populations. METHOD: The authors calculated age-specific prevalence of MS in Israeli-born Jewish inhabitants, immigrant Jews from Europe/America and from North Africa/Asia, Israeli-born Christian and Moslem Arabs, Druze, and Bedouins. RESULTS: Prevalence rate of MS per 10(5) population on June 30, 2000, for each of these groups in the order listed was 61.6, 53.7, and 27.9 for the Jewish groups and 35.3, 14.7, 10.9, and 17.3 for the non-Jewish groups. Three tiers in MS prevalence were apparent. The highest rates were in Israeli-born Jews and in Jewish immigrants from Europe/America (significantly higher in the former than the latter). Jewish immigrants from African/Asian countries and Christian Arabs had intermediate MS rates (significantly lower than in the first two groups but not significantly different from each other). Moslem Arabs, Druze, and Bedouins had the lowest rates of MS (significantly lower than in the intermediate group but not significantly different from each other). CONCLUSION: Diverse ethnic groups living in the same geographic area may have significantly different frequencies of MS.

Adolescent↗

PubMed2004

An association study of a polymorphism in the heparan sulfate proteoglycan gene (perlecan, HSPG2) and Alzheimer's disease.

Accumulating evidence indicates that the heparan-sulfate-proteoglycan (perlecan, HSPG2), as well as other specific proteoglycans, are involved in amyloidogenesis and tau aggregation in Alzheimer's disease (AD). Moreover, the HSPG2 is located on chromosome 1p36, a region of linkage to late-onset AD (LOAD). These two criteria, pathological and positional, make the HSPG2 an interesting candidate for an association with AD. We performed a case-control association study between the common intron 6 BamHI polymorphism at a region of putative heparan-sulfate (HS) attachment sites in the HSPG2 gene and sporadic AD in Jews. No association was detected with AD, neither as a risk factor nor as a modifier gene affecting the age at disease onset and disease progression. In addition, no interactive effect was found with the known risk factor for AD, the apolipoprotein E (APOE) epsilon4. These findings show no evidence for association between HSPG2 intron 6 BamHI polymorphism and AD in our population.

Age of Onset↗

PubMed2004

Lack of association of interleukin-1beta polymorphism with Alzheimer's disease in the Jewish population.

A growing body of evidence suggests that Alzheimer's disease (AD) is associated with local inflammation processes, including the activation of inflammatory cytokines. We performed a case-control association study between sporadic AD patients and the exon 5 position +3953 polymorphism in the potent pro-inflammatory cytokine, interleukin-1beta (IL-1B). Recent association studies of this locus with AD revealed conflicting results, suggesting that the association - if it exists - is not universal but rather population specific. In our study no association was detected with AD: neither as a risk factor nor as a modifier gene affecting the age at onset and disease progression. These findings show no evidence for an association between the IL-1B +3953 polymorphism and AD in the Jewish population.

Age of Onset↗

PubMed2004

The Fas promoter polymorphism at position -670 is not associated with late-onset sporadic Alzheimer's disease.

The Fas antigen is a cell surface receptor-mediating cell apoptosis. Recent studies have demonstrated that Fas-associated apoptosis is involved in the pathogenesis of Alzheimer's disease (AD). Moreover, the Fas gene is located on chromosome 10q24.1, a region of linkage to late-onset AD (LOAD). These two criteria, pathobiological and positional, make the Fas antigen an interesting candidate for an association with AD. We performed a case-control association study between the common A/G polymorphism at position -670 in the Fas gene (TNFSRF6) promoter and sporadic AD in Jews, investigating whether this locus acts as a risk factor or whether it has a modifying effect. An association has recently been detected by Feuk et al. in the Scottish population between this locus and the risk of early-onset AD (EOAD), but not of LOAD. In agreement with Feuk et al., we found no association between this locus and the risk of LOAD (n = 86). However, in our small sample of patients with EOAD (n = 19), no association was found either. No interactive effect was found between the Fas promoter polymorphism at position -670 and the known risk factor of LOAD, apolipoprotein E epsilon4, and no association was detected with disease progression. These findings show no evidence for an association between the Fas promoter polymorphism at position -670 and AD in our population.

Aged↗

PubMed2003

Dimethyl sulfoxide delays PrP sc accumulation and disease symptoms in prion-infected hamsters.

PrP(Sc), an aberrantly folded protein, is the only identified component of the prion, an agent causing fatal neurodegenerative diseases such as scrapie and bovine spongiform encephalopathy. Dimethyl sulfoxide (DMSO) has been shown to reduce the accumulation of PrP(Sc) in scrapie-infected (ScN2a) cells, and to inhibit its aggregation in vitro. In humans, DMSO was used successfully in the treatment of various peripheral amyloidotic diseases. Here we show that administration of DMSO to scrapie-infected hamsters significantly prolonged disease incubation time, as well as delayed the accumulation of PrP(Sc) in Syrian hamster brains. Interestingly, administration of DMSO to scrapie sick hamsters resulted in increased clearance of protease-resistant PrP in their urine. We conclude that although DMSO by itself may not be sufficient to cure prion diseases, it may be considered as a component in a 'cocktail' drug approach for these disorders. Also, urine PrP testing should be considered for the assessment of treatment efficacy.

Animals↗

PubMed2003

Prevalence of myotonic dystrophy in Israeli Jewish communities: inter-community variation and founder premutations.

In a comprehensive epidemiological survey among Jews living in Israel, the average prevalence of myotonic dystrophy (DM) was 15.7/10(5) (1 case in 6369) with intercommunity variations; the Ashkenazi Jews had the lowest rate, 5.7/10(5) (1 case in 17544) as compared to the rate in the Sephardim/Oriental Jews 20/10(5) (1 case in 5000) and the in the Yemenite Jews 47.3/10(5) (1 case in 2114). The rate of unrelated DM-sibships per 10(6) people of each community was used as an estimate of the transition rate from stable to unstable DMPK-(CTG)(n) alleles assuming that each transition is a beginning of a new DM sibship. This study indicated that the difference in the incidence of DM is a result of higher mutation rate in the non-Ashkenazi Jews (>50/10(6)) as compared to the rate in the Ashkenazi Jews (16.3/10(6)). The intragenic haplotype of the DM alleles was the same as that of the DM in many populations all over the world. However, two DM closely linked markers D19S207 and D19S112 were in linkage disequilibrium with the DM mutation in patients of Yemenite and Moroccan (the largest subgroup in the Sephardim Jews) extractions and not in the Ashkenazi patients. This observation indicated a common ancestral origin for the DM premutation in patients of the same ethnic origin. We concluded that the difference in the prevalence of DM among the Jewish communities is a consequence of founder premutations in the non-Ashkenazi Jewish communities.

Adolescent↗

PubMed2003

An association study of the codon 72 polymorphism in the pro-apoptotic gene p53 and Alzheimer's disease.

Recent studies have demonstrated that p53-associated apoptosis is involved in the pathogenesis of Alzheimer's disease (AD). We performed a case-control association study between sporadic AD and the common proline/arginine polymorphism at codon 72 in the pro-apoptotic gene p53, in 109 sporadic AD patients and in 111 controls. This polymorphism has been intensively investigated for association with cancer, but so far not with AD and neurodegeneration. We found no association between this locus and the risk for AD. No association was detected also for the age at disease onset and for disease progression, and no interactive effect was found with apolipoprotein E e4. These findings show no evidence for an association between p53 codon 72 polymorphism and AD in our population.

Aged↗

PubMed2003

A polymorphism in the complement component C1r is not associated with sporadic Alzheimer's disease.

A growing body of evidence suggests that Alzheimer's disease (AD) is associated with local inflammation processes. Complement activation is one of the cardinal pathological features of the inflammation. Intensive AD association studies investigating polymorphisms in inflammatory-related genes have been recently performed, mainly in cytokines, but much less has been focused on AD association with polymorphisms in complement components. We performed a case-control association study between the codon 135 polymorphism in the complement component C1r gene and sporadic AD. No association was detected with AD: neither as a risk factor, and nor as a modifier gene affecting the age at disease onset and disease progression. No interactive effect was found with apolipoprotein E e4. These findings show no evidence for association between C1r codon 135 polymorphism and AD in our population.

Aged↗

PubMed2003

Epidemiology of dementia in Ashkelon: the influence of education.

A population study aimed at evaluating the influence of education on the prevalence of dementia was carried out in Ashkelon, a rural city in Israel. The whole population aged over 75 years was screened, with a very low refusal rate. Altogether, 1501 people were examined, using DSM III-R criteria for dementia. The prevalence of dementia increased with age and was higher among females and immigrants to Israel from Africa and Asia. The most significant correlation was with a low level of education, which completely explained the ethnic differences and partially the female predominance in the frequency of dementia. Our study confirms that schooling appears to be an important protective factor against the development of dementia.

Africa↗

PubMed2003

[Human transmissible spongiform encephalopathies].

A new variant of Creutzfeldt-Jakob disease was discovered in 1996. This new variant was found to be related to encephalopathy. There are 5 known human transmissible spongiform encephalopathies, all created by prions. The prion, a pure protein, smaller than a virus is derived from a normal glycoprotein of human cells wall. The function of this protein is unknown but supposed to be connected with copper incorporation into superoxide dismutase. Creutzfeldt-Jakob disease is an early dementive disease with loss of neurons, accumulation of amyloid and spongiform degeneration of the brain. We discuss the epidemiology, diagnosis and therapy of Creutzfeldt-Jakob and its variant. The increased life expectancy will certainly cause these diseases to be more common, thereby having a definite affect on the economy in both developing and developed countries. Future therapy will concentrate on either preventing the creation of pathologic prions or extracting intracellular prions.

Creutzfeldt-Jakob Syndrome↗

PubMedDate not supplied

The frequency of multiple sclerosis in jewish and arab populations in greater jerusalem.

A comparison of the incidence rate (IR) and the prevalence rate (PR) of multiple sclerosis (MS) in subgroups of the same ethnic origin, but born and living in different geographical areas, may delineate the relationship between environmental and genetic risk factors for MS. Previous epidemiological studies of MS in Israel did not include the Arab population and used diagnostic criteria that did not include MRI findings. Therefore, we studied the age-adjusted IR and PR of MS in a more recent sample in different population groups, including Arabs, of Greater Jerusalem. We found that the PR of MS in Israeli Jews is higher than previously described. Furthermore, the PR was significantly lower among immigrant Jews from Asia/Africa (A/A) than among native-born Jews of Asian/African origin (I-A/A). Since these groups have similar genetic susceptibilities to MS, the higher PR in the latter is probably due to environmental factors. Our study does not support the effect of latitude on the risk of developing MS since no difference in the PR was found between immigrant Jews from Europe/America (E/A) and native-born Jews of European/American origin (I-E/A). Among Arabs, the PR was similar to that among A/A. Therefore, we hypothesized similarity in environmental etiologic factors for MS between the countries of origin of A/A immigrants and of Arabs communities in Greater Jerusalem. The IR of I-E/A was higher than that of I-A/A and Arabs, although this difference did not reach statistical significance.

Adolescent↗