Hakan Gurvit

Istanbul University · Department of Neurology

Objective: Estrogen receptor 1 (ESR1) polymorphisms are associated with Alzheimer's disease (AD) and polymorphisms in the first intronic region of the gene are known to affect ESR1 mRNA transcription. The first intronic region of the ESR1 contains two polymorphisms that have received the most attention: PvuII rs2234693 (NM 000125.3: c.453-397T>C) a...

Objective: The aim of the current study was to investigate affective personality traits in Alzheimer's disease, a neurodegenerative condition mainly characterized by episodic memory impairment. Method: The sample included 69 participants from 3 diagnostic categories. Twenty-five participants were diagnosed with subjective cognitive impairment (S...

The spread pattern of progressive degeneration seen in Alzheimer's disease (AD) to small-scale medial temporal lobe subregions is critical for early diagnosis. In this context, it was aimed to examine the morphometric changes of the hippocampal subfields, amygdala nuclei, entorhinal cortex (ERC), and parahippocampal cortex (PHC) using MRI. MRI data...

Background Falling, which is common in the elderly and leads to negative consequences, can also be seen in dementia patients. The aim of this study is to determine the risk of falls in patients with dementia and to evaluate the factors associated with falls. Method The sample of this cross‐sectional study consisted of 95 patients with a diagnosis...

Objective: Alzheimer's disease (AD) is a progressive neurodegenerative continuum with memory impairment. We aimed to examine the detailed functional (FC) and structural connectivity (SC) pattern of the Papez circuit, known as the memory circuit, along the AD. Methods: MRI data of 15 patients diagnosed with AD dementia (ADD), 15 patients with the...

Korsakoff's syndrome (KS) is characterized by episodic memory impairment due to damage to the medial diencephalic structures. Although commonly associated with chronic alcoholism, starvation due to the hunger strike is one of its nonalcoholic causes. Learning the stimulus-response associations and transferring the just-learned associations to novel...

Background Alzheimer's Disease (AD) is a progressive complex neurodegenerative disorder clinical characterized by demolishing cognitive functions and behavioral abilities. Until recently, molecular mechanisms of AD have not been clarified yet. Alterations in biochemical and molecular pathways in patients suffering from AD may not only emerge in the...

Objectives Estrogen receptor 1 (ESR1) gene polymorphisms are associated with Alzheimer's disease (AD) and ESR1 mRNA transcription is affected by polymorphisms in the first intronic region of the gene. ESR1 PvuII rs2234693 (NM 000125.3:c.453-397T > C) and XbaI rs9340799 (NM 000125.3:c.453-351A > G) polymorphisms have been shown to be associated with...

Background In preclinical Alzheimer’s disease, it is unclear why some individuals with amyloid pathologic change are asymptomatic (stage 1), whereas others experience subjective cognitive decline (SCD, stage 2). Here, we examined the association of stage 1 vs. stage 2 with structural brain reserve in memory-related brain regions. Methods We tested...

Valosin-containing protein (VCP) mutations are causative for multisystem proteinopathy, a disease characterized by variable phenotypes including inclusion body myopathy, Paget's disease of bone, and frontotemporal dementia. More recent reports identified VCP variants as the cause of other neurodegenerative diseases, such as Parkinson's disease and...

Background: One of the most common behavioral problems in patients with dementia is eating problems, which are known to increase the risk of malnutrition. However, few studies have been conducted in this patient group regarding the relationship between eating difficulties and nutritional status. Purpose: This study was designed to determine the...

In this review, the history and current status of the topic of disconnection syndromes, which was introduced to the discipline of Behavioral Neurology by the founding father Norman Geschwind and that has become the dominant paradigm for the explanation of neuropsychiatric disorders with new developments, like network connectivity imaging in the liv...

Leukodystrophies broadly affect the brain white matter. As such, diseases including cerebral autosomal dominant/ recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL/CARASIL) are included in this group. NOTCH3 and HTRA1 variants are a known cause of CADASIL and CARASIL, respectively. Studies have reported NOTCH3 variant...

Amaç: Bu çalışmada, COVID-19 enfeksiyonu geçirmiş ve enfekte olduğu dönemde başlayan geçici veya kalıcı hiposmisi olduğunu ifade eden hastaların beyinlerinde meydana gelen anatomik ve fonksiyonel değişikliklerin araştırılması amaçlandı. Gereç ve Yöntem: Çalışmaya, COVID-19 enfeksiyonu geçirmiş 35 hiposmik (hip-COV) ve 21 normosmik (norm-COV) katılı...

Introduction: Cognitive impairment is common in the course of Parkinson’s disease (PD) and displays a continuum from subjective cognitive impairment to dementia. Illuminating the pathophysiological processes associated with the continuum may help create follow-up and new treatment approaches. In this context, large-scale intrinsic connectivity netw...

Abstract Background: In this study, we aimed to outline the neuropsychiatric consequences of primary progressive aphasia (PPA) and to understand how neuropsychiatric symptomatology affects distress in caregivers. Methods: The Neuropsychiatric Inventory (NPI) including the distress index (NPI-Distress) was used. Additional information about the ca...

Objective: It is known that neurofibrillary tangles associated with neuronal loss in Alzheimer’s disease (AD) start from the transentorhinal cortex and spread to the paralimbic structures. Although the hippocampus is at the center of AD studies, memory is processed in a large neurocognitive network with subcortical components, including the thalamu...

Objective: The APOE 4 allele has an importance in the pathogenesis of Alzheimer's Disease (AD), and it is known that those carrying this allele have an increased risk of developing the disease. However, it is known that those who do not carry the APOE 4 allele also get the disease. The purpose of this study was to investigate the effect of the pres...

Unlabelled: During the caudo-rostral progression of Lewy pathology, the amygdala is involved relatively early in Parkinson's disease (PD). However, lesser is known about the volumetric differences at the amygdala subdivisions, although the evidence mainly implicates the olfactory amygdala. We aimed to investigate the volumetric differences between...

Amaç: Parkinson hastalığında (PH) motor olmayan bulguların en önemlilerinden biri olan kognitif bozulma hastalığın erken dönemlerinden itibaren görülebilmektedir. PH'de yapısal manyetik rezonans görüntülemeyle (MRG) birçok çalışma yapılmış olsa da günlük klinik pratikte kullanılmaya daha uygun olan görsel derecelendirme skalası (GDS) kullanılarak y...

Objective: To understand how the patients’ and their study partners’/ caregivers’ perspectives on cognitive decline change at the subjective cognitive decline (SCD), mild cognitive impairment (MCI), and probable Alzheimer’s disease (PRAD) stages of the AD continuum. Materials and Methods: Twenty-three individuals with the diagnosis of SCD, 33 indi...

Objective: To investigate metabolic changes of mild cognitive impairment in Parkinson's disease (PD-MCI) using proton magnetic resonance spectroscopic imaging (1H-MRSI). Methods: Sixteen healthy controls (HC), 26 cognitively normal Parkinson's disease (PD-CN) patients, and 34 PD-MCI patients were scanned in this prospective study. Neuropsycholog...

Background Biallelic pathogenic variants in the SCARB2 gene have been associated with action myoclonus-renal failure (AMRF) syndrome. Even though SCARB2 associated phenotype has been reported to include typical neurological characteristics, depending on the localization and the feature of the pathogenic variants, clinical course and the presentatio...

Introduction: The key feature that distinguishes mild cognitive impairment (MCI) from dementia is the absence of significant functional decline because of cognitive impairment. In Parkinson's disease patients (PD) with MCI (PD-MCI), the effect of cognitive impairment on complex instrumental daily activities, such as medication management, is not w...

Background: Although language impairment is the most salient feature of cognitive impairment in both primary progressive aphasia (PPA) and stroke aphasia (SA), memory can also be impaired in both patient populations. Objective: To identify distinctive features of verbal and nonverbal memory processing in individuals with PPA and those with SA....

Neurodegeneration in Alzheimer's disease continuum (ADC) starts from the transentorhinal cortex and progresses within hippocampal circuitry following the connectivity of its subfields transsynaptically. We aimed to track volumet-ric changes of the hippocampal subfields by comparing three stages of the ADC. MRI data of 15 patients diagnosed with Alz...

Typical Alzheimer's disease (AD) is a chronic neurodegenerative disease centered on progressive amnestic disorder. However, it may present atypically with various non-amnestic clinical profiles of other focal cortical dementia syndromes depending on the brain areas affected. One of these atypical forms is corticobasal syndrome (CBS), which is not i...

Background: Diseases caused by homozygous variants are more prevalent in consanguineous populations where regions of homozygosity (ROHs) spanning the genome are extended. The same diseases are comparatively rarer in outbred populations, and thus identifying pathogenic variants is more challenging without much larger cohorts. It has been previously...

Amaç: Hafif kognitif bozukluk (HKB), Parkinson hastalığı (PH) seyrinde yaygın olarak görülen bir semptomdur. Bu çalışmanın amacı, ortalama 1,5 yıl süreyle takip edilen PH-HKB hastalarının, takip öncesi ve sonrasındaki kognitif durumlarını ve nöropsikolojik ve nöroanatomik değişikliklerini değerlendirmektir. Gereç ve Yöntem: Çalışmaya ortalama takip...

Alzheimer sürekliliğindeki ilerleyici dejenerasyonun entorhinal korteksten (ECx) başlayarak medial temporal lob (MTL) yapılarına doğru trans-sinaptik olarak ilerlediği bilinmektedir. Bu yayılım örüntüsünün küçük ölçekli MTL yapılarına olan duyarlılığının incelenmesi, hastalığın erken dönemde tanımlanabilmesi için kritik bir öneme sahiptir. Bu neden...

Introduction The majority of Parkinson's disease (PD) ensue late-onset with a complex spectrum of environmental and genetic risk factors. Awareness of genetic causes in patients with PD is essential for genetic counseling and future genotype-oriented therapeutic developments. Methods Large pathogenic changes in eight PD-related genes and small pat...

Motor sequence learning (MSL) paradigms are often used to investigate the neural processes underlying the acquisition of complex motor skills. Behavioral and neuroimaging studies have indicated an early stage in which spatial learning is prominent and a late stage of automatized performance after multiple training periods. Functional magnetic reson...

Objective: Most lacunar strokes are sporadic, and hypertension, diabetes, smoking, and cardiovascular diseases are among its main risk factors. Strokes caused by small vessel diseases are generally associated with single-gene disorders with familial dominant and recessive inheritance. The most common condition is cerebral autosomal dominant arterio...

Mild cognitive impairment of Parkinson's disease (PD) may be an early manifestation that may progressively worsen to dementia. Cognitive decline has been associated with changes in the brain perfusion pattern.This study aimed to evaluate cerebral blood flow (CBF) deficits specific to different stages of cognitive decline. Seventeen patients with co...

Background Copy number variants (CNVs) include deletions or multiplications spanning genomic regions. These regions vary in size and may span genes known to play a role in human diseases. As examples, duplications and triplications of SNCA have been shown to cause forms of Parkinson’s disease, while duplications of APP cause early onset Alzheimer’s...

Objective: In this case report, we aimed to examine the effects of an intensive voice treatment (the Lee Silverman Voice Treatment [LSVT®LOUD]) for Wilson’s disease (WD), and adult cerebral palsy (CP), and dysarthria. Method: The participants received LSVT®LOUD four times a week for 4 weeks. Acoustic, perceptual (GRBAS) analyses were performed and...

Objective: Mutations in the Presenilin-1 (PSEN1) gene have been associated with early-onset familial Alzheimer disease (AD) and these mutations usually exhibit full penetrance. However, the p.E318G variant located at exon 9 of PSEN1 is an exception. This variant is also seen in non-demented controls other than patients with AD suggesting that it ma...

Background Nasu‐Hakola disease (NHD) is a rare, autosomal recessive disorder characterized by skeletal and neurological symptoms. Behavioral symptoms with cognitive impairment may mimic the behavioral variant of frontotemporal dementia (bvFTD) and other early‐onset dementias. We analyzed our patients and reviewed the literature to delineate neurolo...

Just as its clinical heterogeneity, genetic basis of Frontotemporal dementia (FTD) is also diverse and multiple molecular pathways are thought to be involved in disease pathogenesis. In the present study, FTD- related genes were evaluated in a Turkish cohort of 175 index FTD patients with a gene panel including GRN, MAPT, TARDBP, FUS, CHMP2B and VC...

Purpose: Sepsis-associated encephalopathy (SAE) is a common manifestation of sepsis that may lead to cognitive decline. Our aim was to investigate whether the neurofilament light chain (NFL) and soluble triggering receptor expressed on myeloid cells 2 (sTREM2) could be utilized as prognostic biomarkers in SAE. Materials and methods: In this prospec...

Alzheimer’s disease (AD) can be either sporadic or familial, and familial forms of AD accounts for only 5% of the cases. So far, autosomal dominantly inherited mutations in “Presenilin 1” (PSEN1), “Presenilin 2” (PSEN2), and “Amyloid precursor protein” (APP) genes were associated with familial AD. Amid the others, pathogenic mutations in the PSEN2...

Loss-of-function mutations in the sacsin (SACS) gene lead to autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), impairing the function of sacsin. Genotype-phenotype correlations are still unclear for the different mutations reported in ARSACS. Here, we present a Turkish ARSACS family in whom the novel homozygous frameshift mutation...

Loss-of-function mutations in the sacsin (SACS) gene lead to autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), impairing the function of sacsin. Genotype-phenotype correlations are still unclear for the different mutations reported in ARSACS. Here, we present a Turkish ARSACS family in whom the novel homozygous frameshift mutation...

Wilson’s disease (WD) is an autosomal recessive genetic disorder of copper metabolism, and WD patients can present with neurologic symptoms. We aimed to report the general characteristics and prognosis of a Turkish series of WD patients with neurological manifestations. A total of 12,352 patients were screened from the patient database, and 53 WD p...

Background: There is evidence that alterations in functional connectivity (FC) of the striatocortical circuits may appear before the onset of clinical symptoms of Parkinson's disease (PD). Objective: The aim of this study was to investigate FC of the striatocortical circuitry in asymptomatic carriers of heterozygous glucocerebrosidase (GBA) muta...

Background: Right temporal variant frontotemporal dementia (rtvFTD) has been generally considered as a right sided variant of semantic variant primary progressive aphasia (svPPA), which is a genetically sporadic disorder. Recently, we have shown that rtvFTD has a unique clinical syndrome compared to svPPA and behavioral variant frontotemporal deme...

Objectives: We aimed to assess the Addenbrooke’s Cognitive Examination Revised (ACE‐R) and three questions (3Qs, European Aids Clinical Society Guidelines) as potential screening tools for HIV‐associated neurocognitive disorder (HAND). In addition, we tried to determine the prevalence and associated factors for HAND among people living with HIV (PL...

Background Copy number variations (CNVs) arise from copied or deleted regions of the genome. These regions vary in size and may span genes known to play a role in human disease. For example, duplications and triplications of SNCA have been shown to cause forms of Parkinson’s disease, while extra copies of APP are associated with early onset Alzheim...

Background There is an unmet need for an accurate, non‐invasive biomarker test for the diagnosis of early Alzheimer’s disease (AD). To identify new biomarkers, we focused on long non‐coding RNAs (lncRNAs) as they are tissue‐ specific to identify lncRNA panel candidates for diagnostic of early Alzheimer’s disease (AD) and other dementia types. Meth...

Amaç: Alzheimer sürekliliğinde spesifik kortikal alanlarda ilerleyici atrofi görülmektedir. Bunlara ek olarak, entrensek bağlantısallık ağları (ICA) da kendi içlerinde veya birbirleri arasında fonksiyonel bağlantısallık azalışları ve bazen de kompansatuar olabilecek bağlantısallık artışları göstermektedir. Bu çerçevede, serebellum ve beyin arasında...

Amaç: Alzheimer hastalığı, beyindeki nöropatolojik değişikliklerin heterojen dağılımı ile karakterize dejeneratif bir beyin hastalığıdır. Manyetik rezonans görüntüleme (MRG) tekniği hastalık sürekliliğindeki meydana gelen bu heterojen atrofinin kortikal dağılımının in-vivo olarak araştırılmasına imkan sağlamaktadır. Bu çalışmada, Alzheimer süreklil...

Autosomal recessive cerebellar ataxias are a group of rare neurological diseases with a genetic origin. Recently, the mutations in the PNPLA6 gene were suggested to lead to ataxia and also to other specific syndromes such as Boucher-Neuhauser (ataxia, hypogonadism, and chorioretinal dystrophy) or Gordon-Holmes Syndromes (ataxia, hypogonadism, and b...

GİRİŞ VE AMAÇ:Primer progresif afazi (PPA), lisan işlevlerinin belirgin bozulduğu ve erken dönemde diğer kogni-tif becerilerin görece korunduğu nörodejeneratif bir hastalıktır. PPA hastalarının bir bölümünde (semantik PPA) kelime-obje asosiasyonunun bozulmasına bağlı kelime anlama bozuklukları görülürken diğer hastalarda kelime bulma güçlüğü (logop...

Typical Alzheimer’s disease (AD) is characterized by the atrophy of medial temporal lobes and hippocampi as core structures, which is accompanied by progressive cognitive decline. This progressive neurodegeneration is observed as vol- ume reductions in the magnetic resonance (MRI) images that start in the core structures and spread to the rest of t...

Objective: Alzheimer’s disease (AD) is a progressive neurode- generative disease. Diffusion weighted MRI (DWI) changes were observed in disease-specific white matter (WM) tracts in the course of the disease, along which the neurofibrillary tangles spread transsynaptically. WM changes may be important to fol- low the course of the disease. In this s...

Objective: Progressive degeneration in Alzheimer’s disease continuum (ADC) starts from transentorhinal cortex and pro- gresses within hippocampal formation (HF) structures. The investigation of the neurodegeneration spread pattern through the HF subfields in this continuum is critical for the early detection of AD. In this study, we aimed to track...

Objective: The intrinsic connectivity networks mostly affect- ed in Alzheimer’s disease (AD) are the default mode (DMN) and salience networks (SN). The capacity of the functional connectivity (FC) changes in these networks in differentiating subjective cognitive impairment (SCI), earliest stage of cogni- tive decline along the AD continuum, from ob...

Purpose/aim of the study: Parkinson's disease (PD) is the second most common neurodegenerative disorder. Vitamin D deficiency is suggested to be related to PD. A genome-wide association study indicated that genes involved in vitamin D metabolism affect vitamin D levels. Among these genes, single nucleotide polymorphisms (SNPs) of the vitamin D rec...

AD is the highly severe part of the dementia spectrum and impairs cognitive abilities of individuals, bringing economic, societal and psychological burdens beyond the diseased. A promising approach in AD research is the analysis of structural and functional brain connectomes, i.e. sNETs and fNETs, respectively. We propose to use tensor representati...

Parkinson’s disease (PD) with mild cognitive impairment (PD-MCI) is currently diagnosed based on an arbitrarily predefined standard deviation of neuropsychological test scores, and more objective biomarkers for PD-MCI diagnosis are needed. The purpose of this study was to define possible brain perfusion-based biomarkers of not only mild cognitive i...

Self – has temporal components: self continuity as core of our personal identity: stretching or expanding across different points in time (in past and future). CMS has temporal structure driven by strong power in very slow infrawlow frequencies. The growing scientific evidence for a significant role of infra-slow potential fluctuations in modulatin...

‘Triggering receptor expressed on myeloid cells 2’ (TREM2) gene is involved in Alzheimer’s disease (AD) and TREM2 mRNA expression is known to be increased in the peripheral blood cells of AD patients. In this study, we examined the expression levels of TREM2 mRNA in peripheral leukocytes of early and late-onset AD patients. We have also investigate...

Objective: The purpose of this study was to identify the predictors of future falls in mild-to-moderate stage Parkinson’s disease (PD) without cognitive impairment. We evaluated motor findings, non-motor findings, and different cognitive dual tasks such as memory, attention, and executive functions added to the 10-meter walk test (10MWT), which has...

Background: The aim of the present study was to standardize the Short Test of Mental Status (STMS) in the general Turkish aging population and to find its discriminative ability along the continuum of normal cognition, mild cognitive impairment (MCI), and probable Alzheimer’s disease dementia (probable AD). Method: The sample was composed of 161 pa...

Aim Sports activities provide social interaction for humans. Commitment to a given team is a salient feature of being a sports fan and becomes a prominent part of self‐identification for fanatics. Emotion, subjective hedonic experience, and non‐romantic love are related to fan behaviors. Few studies have evaluated the neural basis of sports fanatic...

This study aimed to evaluate caregiver burden and quality of life (QoL) and their predictors in family caregivers of dementia patients. A descriptive cross-sectional survey was carried out with a sample of 102 patients and their family caregivers. The Caregiver Burden Inventory (CBI) and Short Form-12 (SF-12) were used to collect data. CBI mean sco...

Background: Diagnostic evaluation of patients with parenchymal Neuro-Behçet's disease (NBD) requires magnetic resonance imaging (MRI), neuro-ophthalmologic, and neuropsychological evaluation. In this study, we aimed to find out the ideal diagnostic method that most closely reflects the progress in cognitive disability and brain atrophy in NBD. Me...

Although cognitive theory of mind (ToM) has been largely studied within neurodegenerative disorders including Alzheimer's disease (AD), studies focusing on affective ToM are relatively limited, yielding inconsistent findings. The current study aimed at investigating affective ToM abilities within different stages of AD (mild AD dementia [ADD], mild...

Objectives Several large-scale genome association studies have shown that variants in the “ Clusterin”' ( CLU ) gene are important risk factors for Alzheimer's disease (AD). It has also been shown that plasma CLU levels were elevated in patients with AD and associated with disease severity and progression. In this study, we aimed to investigate whe...

Objective: Cerebellum is traditionally associated with motor functions, but recently its functions were broadened to include cognitive and affective functions as well. The impairment of these nonmotor functions was subsumed under the term cerebellar cognitive-affective syndrome (CCAS). Spinocerebellar ataxias (SCAs) are a family of hereditary dege...

Amaç: Parkinson hastalığında (PH) nedensel protein birikimi olan Lewy cisimciklerinin (LC) yayılımı için Braak'ın önerdiği evreleme sisteminde Evre I'de alt beyin sapı ve olfaktor bulbus (OB) birlikte tutulurken, Evre IV'te amigdala ve entorhinal korteks tutulumu vardır. Dolayısıyla Evre IV hastalığın kognitif bulgularının belirmesinde kritik olabi...

Amaç: Spinoserebellar ataksiler (SCA) serebellumda doku/hacim kaybına yolaçan nörodejeneratif, heterojen hastalıklar grubudur. Serebellumun ayrı alt bölgeleriyle, kortikal ve subkortikal bileşenlerden oluşan geniş boyutlu nöral ağlara katıldığı bilinmektedir. Bu çalışmada SCA hastalarında manyetik rezonans görüntüleme (MRG) kullanılarak kortikal ka...

Amaç: Alzheimer hastalığında meydana gelen nöropatolojik değişikliklerin yayılımının Papez devresindeki yapıların küçük ölçekli alt bölgelerine olan yansımaları tam olarak bilinmemektedir. Bu amaçla, Alzheimer sürekliliğinde etkilendiği bilinen yapıların dinlenim durumundaki fonksiyonel bağlantısallıklarının incelenmesi hedeflenmiştir. Gereç ve Yön...

Objectives: We aimed to determine the prevalence and associated factors for HAND among HIV-infected patients in Turkey. In addition, Addenbrooke's Cognitive Examination Revised (ACE-R) and three Simioni questions (3Qs; EACS Guidelines) were also assessed as potential screening tools for HAND. Methods: HIV-infected patients were enrolled consecutive...

https://norokongre2019.org/55-bildiri-kitabi.pdf

Introduction: Cognitive impairment is common in Parkinson's disease (PD) and PD patients with mild cognitive impairment (PD-MCI) are at increased risk of developing Parkinson's disease dementia (PDD). Reliable biomarkers are required for objective identification of cognitive decline in PD. In this pilot study, serum levels of well-known mediators...