The FGF14 GAA repeat expansion in Greek patients with late-onset cerebellar ataxia and an overview of the SCA27B phenotype across populations.

A pathogenic GAA repeat expansion in the first intron of the fibroblast growth factor 14 gene (FGF14) has been recently identified as the cause of spinocerebellar ataxia 27B (SCA27B). We herein screened 160 Greek index cases with late-onset cerebellar ataxia (LOCA) for FGF14 repeat expansions using a combination of long-range PCR and bidirectional repeat-primed PCRs. We identified 19 index cases (12%) carrying a pathogenic FGF14 GAA expansion, a diagnostic yield higher than that of previously screened repeat-expansion ataxias in Greek LOCA patients. The age at onset of SCA27B patients was 60.5 ± 12.3 years (range, 34-80). Episodic onset (37%), downbeat nystagmus (32%) and vertigo (26%) were significantly more frequent in FGF14 expansion-positive cases compared to expansion-negative cases. Beyond typical cerebellar signs, SCA27B patients often displayed hyperreflexia (47%) and reduced vibration sense in the lower extremities (42%). The frequency and phenotypic profile of SCA27B in Greek patients was similar to most other previously studied populations. We conclude that FGF14 GAA repeat expansions are the commonest known genetic cause of LOCA in the Greek population and recommend prioritizing testing for FGF14 expansions in the diagnostic algorithm of patients with LOCA.

Identifying novel regulatory effects for clinically relevant genes through the study of the Greek population.

BACKGROUND: Expression quantitative trait loci (eQTL) studies provide insights into regulatory mechanisms underlying disease risk. Expanding studies of gene regulation to underexplored populations and to medically relevant tissues offers potential to reveal yet unknown regulatory variants and to better understand disease mechanisms. Here, we performed eQTL mapping in subcutaneous (S) and visceral (V) adipose tissue from 106 Greek individuals (Greek Metabolic study, GM) and compared our findings to those from the Genotype-Tissue Expression (GTEx) resource. RESULTS: We identified 1,930 and 1,515 eGenes in S and V respectively, over 13% of which are not observed in GTEx adipose tissue, and that do not arise due to different ancestry. We report additional context-specific regulatory effects in genes of clinical interest (e.g. oncogene ST7) and in genes regulating responses to environmental stimuli (e.g. MIR21, SNX33). We suggest that a fraction of the reported differences across populations is due to environmental effects on gene expression, driving context-specific eQTLs, and suggest that environmental effects can determine the penetrance of disease variants thus shaping disease risk. We report that over half of GM eQTLs colocalize with GWAS SNPs and of these colocalizations 41% are not detected in GTEx. We also highlight the clinical relevance of S adipose tissue by revealing that inflammatory processes are upregulated in individuals with obesity, not only in V, but also in S tissue. CONCLUSIONS: By focusing on an understudied population, our results provide further candidate genes for investigation regarding their role in adipose tissue biology and their contribution to disease risk and pathogenesis.

Diabetic retinopathy in Greece: prevalence and risk factors studied in the medical retina clinic of a Greek tertiary hospital.

PURPOSE: To determine the prevalence of diabetic retinopathy (DR) and diabetic macular edema (DME) in a cohort of Greek diabetic patients and identify possible risk factors. METHODS: This is a non-interventional, cross-sectional study of 300 diabetic Greek patients attending the Ophthalmology Department of a tertiary hospital. Clinical and imaging data were recorded and statistical analysis was performed. Confidence intervals (CI) at 95% and statistically significant p values ≤ 0.05 were set. RESULTS: A total of 300 diabetic patients were included. Of these patients, 21 (7%) were diagnosed with diabetes mellitus (DM) type I and 279 (93%) with DM type II. The average duration of diabetes was 15 ± 9.4 years (95% CI 13.9-16.1) and the mean level of HbA1c was 7.2 ± 1.3 (95% CI 7.1-7.4) overall. Prevalence of DR was 38.7% (116 patients), only 15 patients (5%) had proliferative DR and DME was detected in 19 patients (6.3%). In DM type I patients, 52.4% had DR and 9.5% had DME, while in the DM type II group, 37.6% had DR and 6.1% had DME. Binary logistic regression analysis identified duration of diabetes, increased HbA1c and hypertriglyceridemia as potential risk factors. CONCLUSIONS: This study is the first one to present the extent and severity of DR and DME in a Greek cohort of diabetic patients and also identify risk factors associated with these entities. Our findings highlight the significance of a properly organized national screening program for the early detection and management of the vision-threatening complications of DR.

CanVaS: Documenting the genetic variation spectrum of Greek cancer patients.

National genetic variation registries vastly increase the level of detail for the relevant population, while directly affecting patient management. Herein, we report CanVaS, a Cancer Variation reSource aiming to document the genetic variation of cancer patients in Greece. CanVaS comprises germline genetic data from 7,363 Greek individuals with a personal and/or family history of malignancy. The data set incorporates approximately 24,000 functionally annotated rare variants in 97 established or suspected cancer susceptibility genes. For each variant, allele frequency for the Greek population, interpretation for clinical significance, anonymized family and segregation information, as well as phenotypic traits of the carriers, are included. Moreover, information on the geographic distribution of the variants across the country is provided, enabling the study of Greek population isolates. Direct comparisons between Greek (sub)populations with relevant genetic resources are supported, allowing fine-grain localized adjustment of guidelines and clinical decision-making. Most importantly, anonymized data are available for download, while the Leiden Open Variation Database schema is adopted, enabling integration/interconnection with central resources. CanVaS could become a stepping-stone for a countrywide effort to characterize the cancer genetic variation landscape, concurrently supporting national and international cancer research. The database can be accessed at: http://ithaka.rrp.demokritos.gr/CanVaS.

Biallelic RFC1 pentanucleotide repeat expansions in Greek patients with late-onset ataxia.

Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) has been recently linked to biallelic expansions of a pentanucleotide repeat in the replication factor C subunit 1 (RFC1) gene. Herein, we sought to investigate the presence of pathological RFC1 expansions in selected Greek patients with late-onset ataxia and delineate the phenotypic spectrum of genetically confirmed CANVAS in the Greek population. We screened genetically a total of 77 selected index patients, 67 originating from a cerebellar ataxia cohort and 10 from a hereditary neuropathy cohort. We identified five index cases (6.5%) with biallelic pathological RFC1 expansions, two in the cerebellar ataxia cohort (3%) and three in the neuropathy cohort (30%). Overall, four out of five of cases with full-blown CANVAS and one case with sensory ataxic neuropathy had biallelic pathological expansions. The phenotypic spectrum of positive cases (including two affected siblings) was consistent with previous reports and implied that the sensory neuropathy may be the earliest feature in genetically confirmed CANVAS. Screening for biallelic RFC1 expansions is recommended in all cases with late-onset ataxia of unknown cause, particularly when a sensory neuropathy is present.

Advancements in sex estimation using the diaphyseal cross-sectional geometric properties of the lower and upper limbs.

This paper introduces an automated method for estimating sex from the lower and upper limbs based on diaphyseal CSG properties. The proposed method was developed and evaluated using 389 femurs, 412 tibias, and 404 humeri of adult individuals from a modern Greek reference sample, the Athens Collection. The skeletal properties, which were extracted with the CSG-Toolkit, were analyzed with step-wise DFA (evaluated with LOOCV) and subsequently with RBF kernel SVM supervised learning. SVM cross-validation was based on a 20-fold stratified random sample splitting as well as a chronological split based on year of birth to further assess the effect of secular change in sex estimation capacity. Maximum cross-validated classification accuracy from step-wise DFA reached 94.8% for the femur, 94.7% for the tibia, and 97.3% for the humerus, whereas SVM cross-validated results were similar although slightly lower, mainly due to the more strict cross-validation scheme. Our results suggest that the proposed sex estimation method is reasonably robust to secular change, since there was limited loss in classification accuracy between different chronological groups, despite the presence of secular change in stature of the Greek population during the examined period. The proposed method has been implemented as a function for the GNU Octave environment, named estimate_sex, which comprises a self-intuitive graphical user interface for facilitating sex estimation and is freely available under a suitable license.

Replicating a GWAS: two novel candidate markers for oligospermia in Greek population.

Genome-wide association studies have paved the way for the discovery of new markers regarding many diseases, including male infertility. A previous study on Caucasians highlighted 172 polymorphisms for their putative association with male infertility and we attempted to replicate these findings on our dataset comprising of Greek male individuals (n = 360). We retrieved 59 out of 172 polymorphisms and tested for all association models on 278 normospermic men and 82 patients with an abnormal seminogram, later separated into oligozoospermic and asthenozoospermic groups. Our findings indicate that two SNPs (rs2296225 in KIF17, rs7224496 in SMYD4) are associated with male infertility in the Greek population and have not been recorded in literature as of yet. These novel markers need further validation via additional studies and an increased individual number. All in all, replication studies, possess the power to validate existing polymorphisms found across all population and thus increase both statistical significance as well as identify novel potentially diagnostic markers.

Forensic sex estimation using the vertebrae: an evaluation on two European populations.

Sex estimation is one of the primary steps for constructing the biological profile of skeletal remains leading to their identification in the forensic context. While the pelvis is the most sex diagnostic bone, the cranium and other post-cranial elements have been extensively studied. Earlier research has also focused on the vertebral column with varying results regarding its sex classification accuracy as well as the underlying population specificity. The present study focuses on three easily identifiable vertebrae, namely T1, T12, and L1, and utilizes two modern European populations, a Greek and a Danish, to evaluate their forensic utility in sex identification. To this end, 865 vertebrae from 339 individuals have been analyzed for sexual dimorphism by further evaluating the effects of age-at-death and population affinity on its expression. Our results show that T1 is the best sex diagnostic vertebra for both populations reaching cross-validated accuracy of almost 90%, while age-at-death has limited effect on its sexual dimorphism. On the contrary, T12 and L1 produced varying results ranging from 75 to 83% accuracy with the Greek population exhibiting distinctively more pronounced sexual dimorphism. Additionally, age-at-death had significant effect on sexual dimorphism of T12 and L1 and especially in the Greek female and Danish male groups. Our results on inter-population comparison suggest that vertebral sex discriminant functions, and especially those utilizing multiple measurements, are highly population specific and optimally suitable only for their targeted population. An open-source software tool to facilitate classifying new cases based on our results is made freely available to forensic researchers.

Genome-wide association study identifies candidate markers related to lincRNAs associated with male infertility in the Greek population.

BACKGROUND: Male infertility is currently one of the most common problems faced by couples worldwide. We performed a GWAS on Greek population and gathered statistically significant SNPs in order to investigate whether they lie within or near lncRNA regions. OBJECTIVES: The aim of this study was to investigate whether polymorphisms on or near lncRNAs affect interactions with miRNAs and can cause male infertility. MATERIALS AND METHODS: In the present study, a GWAS was conducted, using samples from 159 individuals (83 normozoospermic individuals and 76 patients of known fertility issues). Standard procedures for quality controls and association testing were followed, based on case-control testing. RESULTS: We detected six lncRNAs (LINC02231, LINC00347, LINC02134, NCRNA00157, LINC02493, Lnc-CASK-1) that are associated with male infertility through their interaction with miRNAs. Furthermore, we identified the genes targeted by those miRNAs and highlighted their functions in spermatogenesis and the fertilization process. DISCUSSION AND CONCLUSION: lncRNAs are involved in spermatogenesis through their interaction with miRNAs. Thus, their study is very important, and it may contribute to the understanding of the molecular mechanisms underlying male infertility.

Investigating the sex-related geometric variation of the human cranium.

Accurate sexing methods are of great importance in forensic anthropology since sex assessment is among the principal tasks when examining human skeletal remains. The present study explores a novel approach in assessing the most accurate metric traits of the human cranium for sex estimation based on 80 ectocranial landmarks from 176 modern individuals of known age and sex from the Athens Collection. The purpose of the study is to identify those distance and angle measurements that can be most effectively used in sex assessment. Three-dimensional landmark coordinates were digitized with a Microscribe 3DX and analyzed in GNU Octave. An iterative linear discriminant analysis of all possible combinations of landmarks was performed for each unique set of the 3160 distances and 246,480 angles. Cross-validated correct classification as well as multivariate DFA on top performing variables reported 13 craniometric distances with over 85% classification accuracy, 7 angles over 78%, as well as certain multivariate combinations yielding over 95%. Linear regression of these variables with the centroid size was used to assess their relation to the size of the cranium. In contrast to the use of generalized procrustes analysis (GPA) and principal component analysis (PCA), which constitute the common analytical work flow for such data, our method, although computational intensive, produced easily applicable discriminant functions of high accuracy, while at the same time explored the maximum of cranial variability.

Prevalence of Apolipoprotein E Polymorphisms in Alzheimer's Disease, Mild Cognitive Impairment, and Healthy Elderly: A Northern Greece Study.

BACKGROUND: Apolipoprotein E ε4 allele (APOEε4) is a major genetic risk factor for Alzheimer's disease (AD). APOEε4 carriers have a higher risk of cognitive impairment and AD in a gene dose-dependent manner. The above notion is investigated in the Greek population. METHODS: A sample of 1,703 subjects (967 AD patients, 576 mild cognitive impairment [MCI] and 160 Healthy Elderly), was genotyped for APOE from 2008 to 2017. DNA was extracted from peripheral blood using the QIAamp Blood DNA purification kit (Qiagen Inc., USA). Descriptive statistics, one-way analysis of variance with Bonferroni post hoc tests, Pearson chi-square test, and binary logistic regression models were used for the statistical analysis. RESULTS: The APOE genotype and allele frequencies in AD group were significantly different from those in the Control and MCI groups. The frequencies of ε4/4 homozygotes were 1.9, 1.6, and 5.7%, while the ε4/- carriers' distribution was 22.5, 24.1, and 37.4% in the Control, MCI, and AD groups respectively. The estimated odds of ε4/4 for AD was 5.731-fold higher compared to the estimated odds of ε3/3. The interaction between gender and APOE did not have a significant effect on the odds for MCI (p = 0.942) and AD (p = 0.984). CONCLUSION: In Greece, APOE ε4 presence is related to an increased risk for AD in a dose-related manner. Contrary to long-standing views, men and women with the APOE ε4 genotype have nearly the same odds of developing MCI and AD.

The Association of Vitamin D Receptor Polymorphisms with COVID-19 Severity.

BACKGROUND: Association studies of vitamin D receptor (VDR) polymorphisms with COVID-19 severity have produced inconsistent results in different populations. Herein we examined VDR gene polymorphisms in a Caucasian Greek cohort of COVID-19 patients. METHODS: This was a case-control study in a tertiary university hospital in Greece including 137 COVID-19 patients with varying disease severities and 72 healthy individuals. In total 209 individuals were genotyped for the FokI (rs10735810), ApaI (rs7975232), TaqI (rs731236) and BsmI (rs1544410) single-nucleotide polymorphisms (SNP) of the VDR gene by polymerase chain reaction and restriction fragment length polymorphism analysis (PCR-RFLPs). Statistical analyses were performed to determine the association between genotype and disease severity, adjusting for various confounding factors. RESULTS: Genotype distribution of the studied VDR SNPs in the control group was in Hardy-Weinberg equilibrium. The TaqI variant was differentially distributed between controls and COVID-19 patients according to the additive model (p = 0.009), and the CC genotype was significantly associated with an increased risk for severe COVID-19 according to the recessive model [OR: 2.52, 95%CI:1.2-5.29, p = 0.01]. Multivariate analysis demonstrated a robust association of COVID-19 severity and TaqI polymorphism in the recessive model even after adjusting for multiple confounders, including age, sex and CRP levels [Adj.OR:3.23, 95%CI:1.17-8.86, p = 0.023]. The distribution of FokI, ApaI and BsmI genotypes was similar between COVID-19 patients and controls. CONCLUSIONS: The CC genotype of TaqI polymorphism is significantly associated with an increased risk for severe COVID-19 independently of age, sex or degree of inflammation.

Translation and Cross-Cultural Adaptation of the Thyroidectomy-Related Voice Questionnaire (TVSQ) in Greek Population.

OBJECTIVES: The Thyroidectomy-Related Voice Questionnaire (TVSQ) is a useful tool in the detection of voice changes and dysfunctions and the diagnosis of other symptoms related to transient or permanent laryngeal nerve damage in patients after thyroidectomy. The aim of our study is the translation and validation of (TVSQ) in the Greek language and in Greek population for the first time. METHODS: The TVSQ was translated from English to Greek and vice versa by two independent researchers, while before the application of the TVSQ in clinical practice, a control group of 20 people was used. The following methods were used for the weighting and analysis of the TVSQ: Polychoric correlation, Cronbach's alpha, confirmatory factor analysis, and item response theory (IRT). RESULTS: Polychoric correlations revealed that questions 1-10 have a strong positive correlation with each other, while the correlation of the rest of the TVSQ items is positive. Subsequently, for the first subgroup of questions ("voice change") Cronbach's alpha was equal to 0.950, while for the second ("throat and neck discomfort") Cronbach's alpha was equal to 0.846. Thus, we conclude that the internal consistency reliability is high for both subgroups of TVSQ questions. With the IRT method we showed that for the first subgroup of questions ("voice change"), the item with the least predictive value is question 5, while for the second subgroup of questions ("throat and neck discomfort"), the item with the least educational value was question 15. CONCLUSIONS: Our team translated and validated the TVSQ with the above statistical methods in the Greek language, so that it can be used as a valuable tool in clinical practice, and more specifically in patients undergoing thyroidectomy. TVSQ can play a significant role on the diagnosis of either postoperative voice disorders and other symptoms related to thyroidectomy.

Exploring Greek Population Attitudes Towards Using Health-Related Websites for Managing Their Health.

The last few years the Internet has evolved into a prominent information source for many people worldwide. Latest research has shown that an ever increasing number of citizens and patients go online in order to access health information and seek support in managing their health, including understanding their condition, adopting life-saving lifestyle adjustments and keeping up with treatment or aftercare guidelines. Due to this rise on the demand of online health information, health-related sites have increased substantially, with each one of them striving to maintain the most comprehensive and reliable source of health and medical information on the Internet. This paper presents a survey conducted among Greek population aiming at exploring participants general attitudes towards using the Internet to access health information as well as their views regarding a specific Greek health-related website, namely Iatronet. To this end, an online Greek version of eHealth Impact Questionnaire has been used which was developed using RedCAP platform.

Screening for the FMR1 premutation in Greek patients with late-onset movement disorders.

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset, X-linked, neurodegenerative disorder that affects premutation carriers of the FMR1 gene. FXTAS is often misdiagnosed as spinocerebellar ataxia (SCA) or Parkinson's disease (PD). Herein, we sought to investigate the frequency, genotypic and phenotypic profile of FXTAS in two cohorts of Greek patients with late-onset movement disorders, one with cerebellar ataxia and the other with PD. In total, 90 index patients with late-onset cerebellar ataxia and 171 with PD were selected. None of the cases had male-to-male transmission. Genetic screening for the FMR1 premutation was performed using standard methodology. The FMR1 premutation was detected in two ataxia patients (2.2%) and two PD patients (1.2%). Additional clinical features in FXTAS patients from the ataxia cohort included neuropathy, mild parkinsonism, cognitive impairment and pyramidal signs. The FXTAS patients from the PD cohort had typical PD. We conclude that, in the Greek population, the FMR1 premutation is an important, albeit rare, cause of late-onset movement disorders. Routine premutation screening should be considered in SCA panel-negative late-onset ataxia cases. Directed premutation screening should be considered in all ataxia and PD cases with additional features suggestive of FXTAS. Our study highlights the importance of FMR1 genetic testing in the diagnosis of late-onset movement disorders.

APOE Allele Frequency in Southern Greece: Exploring the Role of Geographical Gradient in the Greek Population.

BACKGROUND: the apolipoprotein e4 allele (APOE4) constitutes an established genetic risk factor for Alzheimer's Disease Dementia (ADD). We aimed to explore the frequency of the APOE isoforms in the Greek population of Southern Greece. METHODS: peripheral blood from 175 Greek AD patients, 113 with mild cognitive impairment (MCI), and 75 healthy individuals. DNA isolation was performed with a High Pure PCR Template Kit (Roche), followed by amplification with a real-time qPCR kit (TIB MolBiol) in Roche's Light Cycler PCR platform. RESULTS: APOE4 allele frequency was 20.57% in the ADD group, 17.69% in the MCI group, and 6.67% in the control group. APOE3/3 homozygosity was the most common genotype, while the frequency of APOE4/4 homozygosity was higher in the AD group (8.60%). APOE4 carrier status was associated with higher odds for ADD and MCI (OR: 4.49, 95% CI: [1.90-10.61] and OR: 3.82, 95% CI: [1.59-9.17], respectively). CONCLUSION: this study examines the APOE isoforms and is the first to report a higher APOE frequency in MCI compared with healthy controls in southern Greece. Importantly, we report the occurrence of the APOE4 allele, related to ADD, as amongst the lowest globally reported, even within the nation, thus enhancing the theory of ethnicity and latitude contribution.

Male infertility and the impact of lifestyle in the Greek population: A case-control study.

Background and Aims: Collection of epidemiological data has become a crucial step in every fertility evaluation, especially regarding idiopathic male infertility. Information on data such as tobacco smoking, alcohol intake, and body mass index can provide crucial information regarding the dynamics between fertility status and everyday practices. We aim to set the base for epidemiological studies on male infertility in the Greek population. Methods: Four hundred and fourteen Greek volunteers were asked to fill in a questionnaire regarding their characteristics and lifestyle preferences, followed by a seminogram. Depending on their answers, they were divided into groups and data were analyzed for correlation with seminogram parameters using Spearman's rank correlation test. Results: Our results indicate that a high body mass index (BMI) is negatively correlated with all three seminogram parameters (number, motility, and morphology) and exposure to radiation or chemicals is negatively correlated with sperm motility, with a p < 0.01. Conclusions: These findings indicate negative correlations of BMI and exposure to radiation/chemicals with semen parameters in the Greek population. Such information can be used to plan a diagnostic approach or even therapeutic interventions.

Impaired Endothelial Glycocalyx Predicts Adverse Outcome in Subjects Without Overt Cardiovascular Disease: a 6-Year Follow-up Study.

We investigated whether disturbance of glycocalyx integrity is related with increased cardiovascular risk. In 600 healthy subjects, we measured perfused boundary region (PBR), a marker of glycocalyx integrity, in sublingual microvessels with diameter ranging 5-25 µm using a dedicated camera (Sideview Darkfield Imaging). Increased PBR indicates reduced glycocalyx thickness. We prospectively monitored the occurrence of cardiovascular events (MACE-death, myocardial infarction, and stroke) during a 6-year follow-up. Fifty-seven MACE were documented. Increased values of PBR5-25 predicted higher risk for MACE in a model including sex, age, hyperlipidemia, diabetes, hypertension, smoking, family history of coronary disease, treatment with ACEi/ARBs, or lipid-lowering agents (hazard ratio (HR), 6.44, p = 0.011; net reclassification improvement (NRI), 28%; C-statistic: 0.761). PBR5-25 was an independent and additive predictor of outcome when added in a model including the European Heart SCORE, diabetes, family history of CAD, and medication (HR, 4.71; NRI: 39.7%, C-statistic from 0.653 to 0.693; p < 0.01).Glycocalyx integrity is an independent and additive predictor to risk factors for MACE at 6-year follow-up in individuals without cardiovascular disease. ClinicalTrials.govIdentifier:NCT04646252. PBR5-25 was an independent and additive predictor of adverse cardiovascular events in a model including the European Heart SCORE, diabetes, family history of coronary disease, and medication (HR: 4.71, NRI: 39.7%, C-statistic from 0.653 to 0.693; p < 0.01, NRI:37.9%).

Adjustment of the MIND diet tool for discriminating Greek patients with dementia: A confirmatory factor analysis.

Background: The MIND diet, a hybrid of the Mediterranean and DASH diets, has been shown to reduce cognitive decline and dementia occurrence. Aim: In the current cross-sectional study the effect of the MIND diet in elderly Greek individuals, assessed for cognitive decline, was investigated. Confirmatory factor analysis (CFA) evaluated the MIND diet score's factor structure in relation to the ability to distinguish the Greek elderly population diagnosed with or without dementia. Methods: One hundred fifteen participants recently diagnosed with dementia and 52 cognitively healthy controls, after proper neuropsychological testing by neurologists, were included. To ensure the variance-covariance of matrix for the CFA, a second reference group of 36 participants who self-reported as healthy in terms of cognitive status from the general Greek population, was included. Demographic, anthropometric characteristics, emotional status, cognitive function, and dementia diagnosis were recorded. A prediction model investigated the MIND diet's components to separate the study participants according to their cognitive health. CFA was used to examine if the structure of the MIND diet tool scale was a proper model fit or if a different model more appropriately fit our sample data. Results and discussion: The CFA conducted, suggested that the 9 components MIND diet score supported our sample data better than the original 15-item MIND diet. Conclusion: The MIND diets' components must be considered in relevance to the dietary habits and cultural background of the respective population studied. Future studies should evaluate prospectively the effect of MIND-9 on preventing the onset of dementia in Greek adults.

Expanding the spectrum of C9ORF72-related neurodegenerative disorders in the Greek population.

The C9ORF72 hexanucleotide repeat expansion is an established cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) and has also been associated with Huntington disease (HD)-like syndromes and rarely with Parkinson's disease (PD) and Alzheimer's disease (AD). In the present study we aimed to investigate the genotypic and phenotypic profile of C9ORF72-related disorders in Greece. For this reason, 957 patients (467 with ALS, 53 with HD-like syndromes, 247 with dementia, 175 with PD and 15 with hereditary spastic paraplegia, HSP) and 321 controls were tested for the C9ORF72 repeat expansion. Forty-nine patients with ALS (10.5%), 2 with HD-like syndromes (3.8%), 13 with FTD (11.5%), 1 with AD (1.6%), and 2 with PD (1.1%) were expansion-positive. The expansion was not detected in the HSP or control groups. The results of this study provide an update on the spectrum of C9ORF72-related neurodegenerative diseases, emphasizing the importance of C9ORF72 genetic testing in Greek patients with familial and sporadic ALS and/or FTD and HD-like syndromes.