Zeliha Yücel

Aim: Vascular cognitive impairment (VCI), which affects many people, is important to distinguish from other types of cognitive impairment because vascular risk factors can slow disease onset and progression. In our study, we aimed to determine the most appropriate cognitive screening tool for vascular cognitive impairment. Methods: This study included 110 patients with mild VCI and a control group of 90 volunteers aged over 55 and was conducted between July 2024 and September 2025. Mild VCI was diagnosed according to DSM-5 criteria. We administered the Montreal Cognitive Assessment (MoCA), the Standardized Mini-Mental State Examination (MMSE), and Addenbrooke’s Cognitive Examination Test (ACE-R) to all participants. Results: Our findings demonstrate that all three screening tools significantly differentiate patients with mild VCI from healthy controls. ACE-R had the highest area under the curve (AUC = 0.967) and showed 90% sensitivity and 100% specificity at a cut-off of 68.5. MoCA also showed relatively high sensitivity (86.4%) and specificity (91.1%), with high diagnostic accuracy (AUC = 0.946). In contrast, the MMSE showed a slightly lower diagnostic performance (AUC = 0.926) but still had high specificity (92.2%). Conclusions: Our study demonstrates that the ACE-R is the most accurate screening tool for detecting mild vascular cognitive impairment, with the MoCA trailing by a very small margin, while the MMSE may be less sensitive in the early stages. Given the administration time, the MoCA can be a quicker alternative to the ACE-R.

Objective: Thrombophilic and cardiovascular genetic variants are known contributors to venous and arterial thrombotic disease. However, their combined effect on neurovascular and neurodegenerative outcomes is less understood. This study explores the independent and combined links of these genetic factors with neurovascular events and cognition using a multivariate approach. Methods: This retrospective clinical-genetic study involved 91 adult patients evaluated between January 2022 and February 2025. Genetic analyses were performed using a standardized thrombophilia panel focusing on MTHFR C677T, PAI-1 4G/5G, Factor V Leiden (G1691A), and Prothrombin G20210A polymorphisms. Clinical endpoints included ischemic stroke, transient ischemic attack, venous thrombosis, vascular dementia, and cognitive impairment assessed by Mini-Mental State Examination. Results: MTHFR C677T homozygosity was independently associated with vascular dementia (OR 3.2; 95% CI 1.1–8.9; p=0.027) and showed clustering with cognitive impairment. Factor V Leiden (OR 2.6; 95% CI 1.1–6.3; p=0.031) and Prothrombin G20210A carriage (OR 2.1; 95% CI 1.0–4.2; p=0.049) were independently associated with stroke and thrombotic events. Individuals carrying multiple mutations demonstrated higher rates of stroke (up to 40%), thrombosis (up to 40%), and cognitive impairment compared with single-mutation carriers or genetically negative individuals, supporting a cumulative polygenic risk effect. Biochemical correlations were concordant with genotype–phenotype patterns, including elevated homocysteine levels among MTHFR carriers and increased fibrinogen tendency among β-fibrinogen polymorphism carriers. Conclusion: Thrombophilic and cardiovascular genetic variants are associated not only with classical thrombotic phenotypes but also with neurovascular and cognitive outcomes.

Aim: Vascular cognitive impairment (VCI), which affects many people, is important to distinguish from other types of cognitive impairment because vascular risk factors can slow the onset and progression of the disease. In our study, we aimed to determine the most appropriate cognitive screening tool. Methods: The study included 110 patients with minor VCI and a control group of 90 volunteers aged over 55 and was conducted between July 2024 and September 2025. The diagnosis of mild VCI was determined according to DSM-5 criteria. The Montreal Cognitive Assessment (MoCA), the Standardized Mini-Mental State Examination (MMSE), and the Addenbrooke's Cognitive Examination Test (ACE-R) were administered to all participants. Results: Our findings demonstrate that all three screening tools significantly differentiate patients with mild VCI from healthy controls. ACE-R had the highest area under the curve (AUC=0.967) and showed 90% sensitivity and 100% specificity at a cutoff point of 68.5. MoCA also showed relatively high sensitivity (86.4%) and specificity (91.1%), with high diagnostic accuracy (AUC = 0.946). In contrast, MMSE showed slightly lower diagnostic performance (AUC=0.926) but still had high specificity (92.2%). Conclusion: Our study shows that ACE-R is the most accurate screening tool for detecting mild vascular cognitive impairment, closely followed by MoCA, while MMSE, though useful, may be less sensitive in the early stages. Further studies involving larger, multicenter cohorts and different subtypes of vascular cognitive impairment are needed.

Assessment of Physical Activity Behaviors and Perspectives in Epilepsy Patients - Archives of Epilepsy

Frontotemporal dementia (FTD) represents a heterogeneous group of neurodegenerative disorders marked by progressive deterioration in behavior, language, and executive function. While its genetic architecture dominated by mutations in C9orf72, GRN, and MAPT has been widely studied, less attention has been given to how early neurodevelopmental processes may shape regional vulnerability. This review integrates current findings in molecular genetics with insights from embryonic development of the frontal and temporal lobes. Key signaling pathways such as Wnt, SHH, and Notch are examined in the context of FTD-related pathology. Emphasis is placed on how embryological disruption may predispose cortical regions to later neurodegeneration. The clinical implications of these developmental-genetic interactions are also explored, underscoring their relevance in future biomarker discovery and therapeutic targeting.

Relationship Between Cognitive Impairments and Serum Orexin Levels in Epilepsy Patients - Archives of Epilepsy

Parkinson's disease (PD) is one of the most common neurodegenerative diseases worldwide. Approximately 15% of PD patients have a family history of the disease in one or more first-degree relatives, and 5-10% of PD cases exhibit a classical Mendelian inheritance pattern. In 1997, the heritable transmission of PD was first documented. Recent studies have found 90 independent genome-wide signals at 78 loci that may be associated with PD. The identification of genes linked to PD and their functions has uncovered novel biological pathways and treatment options that play a role in the development of PD. In this article, it is aimed to review up-to-date information on the genetics of PD.

Diabetic neuropathy, a common complication of diabetes mellitus (DM), involves nerve damage resulting from prolonged exposure to high blood sugar levels. Genetic factors play a crucial role in influencing susceptibility to this condition. Variations in genes related to nerve structure and function, inflammatory responses, and metabolic processes have been implicated in diabetic neuropathy. For instance, polymorphisms in the gene encoding protein kinase C beta (PKC-β) contribute to increased vulnerability by promoting oxidative stress and inflammation in nerve tissues. Similarly, genetic variations in the aldose reductase gene (AKR1B1), involved in the polyol pathway, may disrupt glucose metabolism and contribute to nerve damage. Furthermore, genes regulating neurotrophic factors like nerve growth factor (NGF) and those affecting mitochondrial function and oxidative stress responses also influence neuropathy risk. Understanding these genetic underpinnings not only enhances our knowledge of diabetic neuropathy’s pathophysiology but also opens avenues for personalized therapeutic strategies aimed at mitigating its impact. Continued research into the interplay of genetic predisposition and environmental factors promises further insights into preventing and managing this debilitating complication effectively.

Spinal musküler atrofi (SMA), kranial sinir motor çekirdekleri ve omurilikteki ön boynuz motor nöronların kaybının yol açtığı ilerleyici kas güçsüzlüğü ve atrofisi ile seyreden kalıtsal bir hastalıktır. Otozomal resesif geçiş gösterir ve Survival Motor Nöron 1 (SMN1, MIM *600354) genindeki mutasyonlar sonucu ortaya çıkar. Dünya genelinde SMA görülme sıklığı 10 000 canlı doğumda ~1-3, SMN1 gen mutasyonlarının taşıyıcı sıklığı ise ~1/50’dir. SMA, klinik şiddeti ve hastalık başlangıç yaşına göre beş ayrı fenotip olarak olarak sınıflandırılır. Temel klinik bulgu kas güçsüzlüğü ve atrofisidir. Ülkemizde Sağlık Bakanlığı verilerine göre yaklaşık 3000 SMA hastası izlenmektedir. SMA’nın kalıtımından sorumlu SMN1 geni, 5. kromozomun uzun kolunda, 5q13.2 bölgesinde yer almaktadır. Son on yılda, SMA tanı ve tedavisinde çığır açıcı gelişmeler yaşanmış, erken tanı ve tedavinin hastalık seyrini değiştirdiği izlenmiştir. Erken tanıya yönelik ülkemizde yenidoğan ve evlilik öncesi SMA tarama programları uygulanmaktadır. Günümüzde SMA tedavisinde birçok preklinik ve klinik çalışma halen devam etmekte ve klinik yararlanımı artırmaya yönelik kombine tedavi stratejileri denenmektedir.