Investigation of Psen1&2 Genes in Early Onset Alzheimer’s Disease Patients

Content Provider	Semantic Scholar
Author	Akbari, L. Delkhah Azadfar, Parisa Sheibani-Nia, Samira Noroozıan, Maryam Houshmand, Massoud
Copyright Year	2014
Abstract	s / Neurobiology of Aging 35 (2014) 715–724 722 Poster Presentations (Saturday, October 26, 2013) INVESTIGATION OF PSEN1&2 GENES IN EARLY ONSET ALZHEIMER’S DISEASE PATIENTS Leila Akbari , Parisa Azadfar , Samira Sheibani-Nia , Maryam Noroozian , Farhad Assarzadegan , Massoud Houshmand . a Special Medical Center, Department of Biology, Tehran, Iran; Roozbeh Psychiatric Hospital, Memory and Behavioral Neurology Department, Tehran, Iran; c Imam Hossein Hospital, Department of Neurology, Tehran, Iran; National Institute of Genetic Engineering And Biotechnology, Medical Genetics Department, Tehran, Iran Objectives. Alzheimer disease (AD), the most common cause of dementia in the elderly, is usually divided into familial and sporadic forms, according to family history. The familial form has often been reportedly caused by mutations in amyloid precursor protein (APP), presenilin1(PSEN1) or presenilin-2(PSEN2) genes.The aim of this study was investigation of PSEN1 and PSEN2 hot spot exons in early onset Alzheimer’s disease(EOAD). Methods. 24 patients (whose age at onset was less than 65 years) with EOAD in an Iranian population and 48 age-and sex matched healthy subjects were included in this study. Total DNAs were extracted from blood samples. PCR-sequencing methods were used to amplify and analyze the above exones of our patients and DNA samples were compared with controls. Results. Two known mutations (Glu 120 Lys in exon 5 of 2 patients and Arg 62 His in exon5 of 1 patient) were found. Conclusions. Exons 5 and 7 of PSEN1 gene and exons 5 and 6 of PSEN2 were not hot spots in Iranian patients with EOAD ANALYSIS OF APP GENE IN EARLY ONSET ALZHEIMER’S DISEASE PATIENTS Parisa Azadfar , Leila Akbari , Samira Sheibani-Nia , Maryam Noroozian , Farhad Assarzadegan , Massoud Houshmand . a Special Medical Center, Department of Biology, Tehran, Iran; Roozbeh Psychiatric Hospital, Memory and Behavioral Neurology Department, Tehran, Iran; c Imam Hossein Hospital, Department of Neurology, Tehran, Iran; National Institute of Genetic Engineering And Biotechnology, Medical Genetics Department, Tehran, Iran Objectives. Alzheimer’s disease (AD) is a progressive neurodegenerative disease that is characterized by memory loss and personality changes. Mutations in amyloid precursor protein (APP) are known to cause earlyonset Alzheimer’s disease (EOAD). The aim of this study was to examine the variation of exons 16 and 17 of APP genemutation in cognitive function in EOAD; these exones were hot spots in Italy, Belgium and Germany, and so were chosen. Methods. In this study, 24 patients and 48 individuals as control group were used. After PCR amplification, genotypes were analyzed with sequencing methods. Results. Single nucleotide substitutions at exon 16 of the APP gene at position T12931884A in intron 16 which had 26 nucleotides to coding region was found in one Iranian patient with AD, but no other variations were found in exons 16 and 17 of APP gene in early-onset AD. Conclusions. Exons 16 and 17 are not hot spots in Iranian AD patients. RAPIDLY PROGRESSIVE DEMENTIA AND CREUTZFELDT-JACOB DISEASE: A CASE REPORT Belgin P. Balci, Soydan _ Ince, Birgul Bastan, Sefer Gunaydin, Zulfikar Memis, Ozlem Cokar. Haseki Research and Education Hospital, Department of Neurology, Istanbul, Turkey Objectives. Creutzfeldt-Jacob Disease (CJD) is the most common form of prion diseases and is characterized by rapidly progressive dementia, myoclonus and specific EEG findings. It has familial, sporadic and iatrogenic forms and generally seen after fifth decade of life. Life expectancy is around 6-8 months. Cranial magnetic resonance imaging (MRI) shows specific ribbon-like areas in the cerebral cortex. The 14-3-3 Protein positivity in cerebrospinal fluid (CSF) is a strongly supportive diagnostic biomarker, however definitive diagnosis is made by necroscopy. Methods. Here we present a case with probable CJD. Results. The patient is an 69-years-old male, presenting with insomnia, loss of social interest, behavioral changes. In the last ten days he was using his left arm to a lesser extent and experiencing tremors starting first at his left arm and then at both legs. Neurological examination revealed abulia, left-sided visual extinction and spatial neglect. He had mild left-sided paresis and Babinski sign. He had progressive left sided myoclonus provoked by tactile and auditory stimuli. Cranial MRI was normal. Electroencephalography (EEG) represented pseudo-periodic sharp-wave complexes appearing more on right hemisphere. CSF 14-3-3 protein assay was positive. His neurological and general physical status got worse and he died. Neurological signs, EEG findings and CSF 14-3-3 positivity supported the diagnosis of CJD in our case. Conclusions. Although CJD is rarely seen, prion diseases should be considered in the presence of rapidly progressive dementia with other neurological symptoms. Diagnostic work-up should include EEG recordings, cranial MRI and CSF 14-3-3 immunoassay. However , necroscopic studies are necessary for definite diagnosis of CJD. PRE-EXISTING DEMENTIA IN OCTAGENERIANS WITH ACUTE ISCHEMIC STROKE Birgul Bastan, Sefer Gunaydin, Belgin P. Balci, Hurtan Ozacar, Ozlem Cokar, Feriha Ozer. Haseki Research And Education Hospital, Department of Neurology, Istanbul, Turkey Objectives. To investigate the prevalance of pre-existing dementia and vascular risk factors in hospitalized octaganerians with acute ischemic stroke. Methods. Study subjects were selected from neurology inpatient records of Haseki Research and Education Hospital and included inpatients over 80 years old with acute ischemic stroke between January 2010 and July 2013. Their medical records were reviewed, and the rates of hypertension, diabetes mellitus, atrial fibrillation and dementia were calculated. Results. A total of 367 patients over 80 years old were identified. Mean age was 84,3 5,93. Female:male ratio was 2.06. Fourty (%11,4) patients had pre-existing dementia. Two hundred and fifty-six (%69,7) patients had hypertension and 76 (%20,7) had diabetes mellitus. Half of patients had atrial fibrillation. Eighty patients (%21.8) had a previous stroke. Conclusions. The rate of octagenerians with formerly diagnosed dementia in octagenerians with acute ischemic stroke was %11,4. Hypertension and atrial fibrillation were the main vascular risk factors. ONSET OF DEMENTIA SYMPTOMS AFTER CESSATION OF SMOKING: A CASE REPORT Caner F. Demir , Hasan H. Ozdemir . a Firat University, Department of Neurology, Elazig, Turkey; Bismil State Hospital, Department of Neurology, Diyarbakir, Turkry Objectives. Like caffeine, nicotine may be regarded as a stimulant. The neurotoxic and neuroprotective properties of nicotine had not been thoroughly investigated until recently. Also nicotine has a neuroprotective action in neurodegenerative disorders such as Parkinson’s and Alzheimer’s diseases. It protects neurons against the neurotoxicity caused by b-amyloid, the major component of senile plaques. People choose to smoke because they appreciate the psychoactive, stimulant effects of nicotine. Smokers report that smoking helps them concentrate, reason, and perform observations consistent with studies demonstrating that nicotine improves attention, learning, reaction time, and problem solving. Methods. A 65-year-old previously healthy Turkish man was admitted with altered mental status. After smoking for nearly 50 years he suddenly stopped smoking. His family members reported some changes in his
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DOI	10.1016/j.neurobiolaging.2013.10.061
Volume Number	35
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Alternate Webpage(s)	https://doi.org/10.1016/j.neurobiolaging.2013.10.061
Journal	Neurobiology of Aging
Language	English
Access Restriction	Open
Content Type	Text
Resource Type	Article