Lege Artis Medicinae

[Development of the diagnostic criteria of Alzheimer’s disease]


JUNE 20, 2013

Lege Artis Medicinae - 2013;23(05-06)

[Alzheimer’s disease is a new endemic of the 21st century, which is going to become the biggest health and social problem of the ageing societies in the next few decades. Significant discoveries have been made by structural and functional imaging and biochemical (especially CSF) and genetic tests regarding the diagnosis of Alzheimer’s disease. The modern diagnostic results were recently incorporated into the diagnostic criteria. This review summarises these diagnostic results.]



Related contents

LAM Extra for General Practicioners

[Alzheimer’s disease and arrhythmia: cause, effect, complication]

PETŐ Balázs, KOVÁCS Tibor

[Alzheimer’s disease (AD) is a new endemic of the 21st century which becomes the biggest health and social problem of the ageing societies in the next few decades. Vascular factors, such as cardiac arrhythmias, especially atrial fibrillation, play an important role in the pathogenesis of AD. Arrhythmias might develop as a consequence of AD, too, and they might be caused by the cholinergic medications used in the treatment of AD. In addition, AD has a major influence on the treatment of arrhythmias, especially atrial fibrillation. Because of these, AD and arrhythmias might accompany each other in the practice of several medical specialties; these interactions are reviewed in this paper. ]

Lege Artis Medicinae

[The effects of angiotensin receptor blockers on the nervous system in hypertension and dementia]


[The renin-angiotensin system (RAS) is one of the most important mechanisms regarding the pathomechanism and treatment of hyprtension. The most of the elements of the RAS are found in the nervous system too. The effect of angiotensin converting enzyme inhibitors and angiotensin receptor blockers (ARBs) is based on the inhibition of the RAS. ARBs might have a special role in the central nervous system because they do not decrease the production of angiotensin but inhibit its harmful effects mediated through the AT1 receptor while allowing the stimulation of AT2 receptors with resulting pleiotrophic actions. Hypertension is the most important risk factor for stroke and has a negative effect on cognitive functions. Antihypertensive treatment has an effect on the nervous system; in addition to the consequences of the reduced blood pressure, ARBs might provide additional advantages in stroke and dementia prevention.]

Clinical Neuroscience

[Lack of associations between CLU and PICALM gene polymorphisms and Alzheimer’s disease in a Turkish population]

SEN Aysu, ARSLAN Mehtap, ERDAL Emin Mehmet, AY Izci Ozlem, YILMAZ Gorucu Senay, KURT Erhan, ARPACI Baki

[Background and purpose - To investigate the association between the rs11136000 single nucleotide polymorphism (SNP) of the clusterin (CLU) gene, the rs541458 and rs3851179 SNPs of the phosphatidylinositol-binding clathrin assembly protein (PICALM) gene and Alzheimer’s disease (AD) in a Turkish population, and to determine whether there are any relationships between the CLU and the PICALM genotypes and behavioral and psychological symptoms of dementia (BPSD) in the Turkish population. Methods - One-hundred and twelve AD patients and 106 controls were included in this study. BPSD were evaluated by the Behavioral Pathology in Alzheimer’s Disease Rating Scale (BEHAVE-AD). SNPs in the CLU and the PICALM gene were genotyped by Real-Time PCR. Genotype distributions were assessed for the groups of patients and controls, for the patient groups with and without each BPSD, and “No BPSD” and “BPSD”. Results - The CLU and the PICALM genotypes were similar in the AD and control subjects, and the groups with and without each BPSD. There were also no significant differences between the “No BPSD” and the “BPSD” groups for the PICALM genotypes, but even without a statistical significance, it is notable that none of the “No BPSD” patients had genotype pattern CLU-rs11136000-TT, and the female subjects with genotype pattern CLU-rs11136000-TT had higher mean score of BEHAVE-AD. Conclusion - This study claims that investigated SNPs are not genetic risk factors for AD in a Turkish population. In addition, the rs541458 and rs3851179 of PICALM SNPs are not related to development of BPSD, but the rs11136000 of CLU SNP might be related to development of BPSD in AD female Turkish subpopulation.]

Clinical Neuroscience

[The first identified Central-Eastern European patient with genetically confirmed dentatorubral-pallidoluysian atrophy]


[Aims - Dentatorubral-pallidoluysian atrophy (DRPLA) is an inherited neurodegenerative disorder characterized by a trinucleotide repeat expansion. The disease mainly occurs amongst the Japanese and is extremely rare in the European population. The characteristic clinical symptoms are cerebellar ataxia, dementia, choreoathetoid movements, epileptic seizures and myoclonus. The aim of this study is to present the first genetically confirmed Hungarian case of DRPLA. Case report - The middle-aged female patient developed the characteristic clinical symptoms except myoclonus over her late thirties with positive family history. The major finding in the skull magnetic resonance imaging was the atrophy of infratentorial brain structures with the consequential dilation of related cerebrospinal fluid spaces. A detailed neuropsychological examination was also performed and it revealed moderate cognitive dysfunctions, mild depression and anxiety. As underlying conditions, Huntington’s disease and common spinocerebellar ataxia forms all came into consideration, but all the result of the respective genetic tests were negative. However, the test for mutation in the ATN1 gene revealed pathological heterozygous CAG repeat expansion. Conclusion - This case study serves as the first description of genetically confirmed DRPLA in the Central-Eastern region of Europe, the clinical features of which seems to be very similar to the previously reported cases.]

Clinical Neuroscience

[β-amyloid peptide-induced intracellular calcium level changes in Alzheimer fibroblasts]

PALOTÁS András, KÁLMÁN János, LASKAY Gábor, JUHÁSZ Anna, JANKA Zoltán, PENKE Botond

[Rationale - β-amyloid peptides, comprising the major neuropathological lesions of Alzheimer's disease, have been found to form depositions in various peripheral tissues, including the skin. Neurons in the disorder succumb to the altered ionic homeostasis and some other factors caused by this toxic peptide. In line with these findings, our study aimed to find differences in biochemical processes of cultured cutaneous fibroblasts derived from sporadic Alzheimer patients and from agematched control individuals that may mirror changes in the central nervous system. Methods - Intracellular ionic homeostasis of Alzheimer and control fibroblasts was measured in Fura-2AMloaded human fibroblasts by dual wavelength spectrofluorimetry. Results - Cells derived from Alzheimer patients exhibited lower intracellular free calcium levels as compared to the control cultures. Exposure of fibroblasts to β-amyloid resulted in increased calcium concentrations of the control cells, but not of Alzheimer ones. Conclusion - Our findings indicate that Alzheimer’s disease is a systemic disorder that, among others, affects the calcium homeostasis of fibroblasts. Even though it is unknown whether the diminished ionic response of Alzheimer fibroblasts is a disease or actual status marker, it could prove to be a useful model for the analysis of Alzheimer specific changes.]