Noropsikiyatri Arsivi-Archives of Neuropsychiatry最新文献

Introduction: Lateral temporal lobe epilepsy (LTLE) is characterized by auditory auras and is often associated with genetic factors. Previous studies have identified various genes linked to LTLE, including LGI1. However, there remains a need to explore other genetic variants that contribute to the LTLE phenotype, particularly in the absence of LGI1 mutations.

Methods: A cohort followed in our epilepsy center and diagnosed as LTLE with auditory aura was recruited to the study. We have performed whole exome sequencing data analysis of 19 patients using a two-step approach. In the first step, we have focused on six LTLE associated genes, namely LGI1, RELN, MICAL1, CNTNAP2, DEPDC5 and SCN1A. In the second step, the data was filtered against a list of epilepsy related genes.

Results: Our analysis identified novel variants in LTLE-associated genes, including RELN, SCN1A, and CNTNAP2, which confirmed previous findings. Importantly, for the first time, we identified a loss-of-function variation in the CHRNB2 gene that may be associated with the LTLE phenotype.

Conclusion: Our study underscores the genetic heterogeneity of lateral temporal lobe epilepsy (LTLE) by identifying new genetic variants linked to the disorder. Notably, we propose that CHRNB2 is a novel gene associated with LTLE, thereby broadening the spectrum of known genetic contributors. This finding highlights the complexity of LTLE's genetic landscape and suggests new pathways for future research and clinical application.

Introduction: Huntington's disease is a monogenic neurodegenerative disease that is inherited in an autosomal dominant manner and is characterized by motor, psychiatric and cognitive symptoms that progress within 15 -20 years after diagnosis. In this study, we aimed to summarize our retrospectively compiled Huntington's disease diagnostic test results by correlating them with the patients' clinical findings.

Methods: We conducted an analysis on a cohort of 88 individuals and evaluated their clinical symptoms. The research included the sample collections, isolation of DNA, the polymerase chain reaction (PCR) step, and capillary electrophoresis for fragment analysis. The results were assessed and the Cytosine-Adenine-Guanine (CAG) repetition count was computed.

Results: The patients' CAG trinucleotide repeat (TNR) counts were determined. Individuals with a TNR of 39 and above were considered to have HD. Patients with increased clinical findings and pathogenic TNR counts were evaluated in terms of detailed phenotypic features and family history. The ages of the patients ranged from 24 to 85, with a mean age of 50.12. The study suggests that the expansion of genetic repeats may affect the age of onset of the disease. The most common initial symptoms were chorea and psychiatric symptoms. Most patients had a family history of the disease and the transmission from the father occurred earlier.

Conclusion: It was emphasized that individuals with a TNR between 39 and above should be under the supervision of a physician. Prenatal diagnosis is recommended for those planning to have children. In addition, cases with a CAG trinucleotide repeat of 33 and 36 are recommended to inform the next generations about HD and to inform them about the possible effects in the future.

Introduction: Myasthenia gravis (MG) is an autoimmune disease that is caused by autoantibodies targeting the neuromuscular junction. A few studies in the literature show that MG may negatively affect muscle metabolism. However, no current study investigates MG pathophysiology's effect on muscle oxygenation. In this study, we aimed to investigate the difference in muscle oxygenation in MG disease and to evaluate its clinical Pathophysiological implications.

Methods: 19 MG patients and 19 age, gender and body mass index (BMI) matched healthy controls participated in the study. Functional near-infrared spectroscopy (fNIRS) recordings were recorded from six channels over the biceps brachii muscles during the rhythmic elbow flexion-extension task.

Results: It was observed that oxygenated-hemoglobin (HbO) (p = 0.008) and total hemoglobin (HbT) (p = 0.017) values during exercise were significantly lower in MG patients in the motor point of the biceps brachii muscle. In addition, at rest, deoxygenated-hemoglobin (HbR) levels were significantly lower in patients (p<0.05) in the motor point and the lateral region of the biceps brachii muscles. Additionally, a difference is observed in fNIRS values between the moderate-severe MG group and healthy controls. Also, a negative correlation was observed between exercise-state HbO and rest-state HbR values and disease severity (p<0.05).

Conclusion: MG patients show deterioration in muscle oxygenation values during exercise and rest. Oxygenation values show significant differences in disease severity and negatively correlate with disease severity. Based on these findings, MG disease may affect muscle oxygenation and can be monitored by fNIRS.

Introduction: Infantile Epileptic Spasms Syndrome (IESS) is an age-related developmental and epileptic encephalopathy that may be resistant to treatment and can negatively affect neurodevelopment. The classification of the etiology of IESS is important for its treatment, considering prognosis, and for future studies. The present study aimed to investigate the difficulties in etiologic classification of IESS based on the International League Against Epilepsy (ILAE, 2017).

Methods: The data of patients diagnosed with IESS between 2014 and 2023 were reviewed retrospectively. The diagnosis of IESS was made by the presence of epileptic spasm and/or hypsarrhythmia on electroencephalography (EEG). Etiological classification was made based on the 2017 (ILAE) etiologic classification and the difficulties encountered were examined.

Results: In this study, 108 patients, 63 (%58) girls and (%42)45 boys, with a mean age of 22±13 (3-72) months, were included. The etiology remained unclear in 30 patients (27.7%) and was detected in 78 patients (72.2%). The underlying causes of patients were genetic 16 (14.8%), structural 57 (61.5%), inherited metabolic diseases 4 (3.7%), and infectious 1 (0.9%). Congenital metabolic diseases were included in the metabolic diseases group. Since different etiologies could cause IESS, either alone or in combination, difficulties were encountered especially in grouping the patients with a genetic origin of the disease, resulting in structural anomalies and inherited metabolic diseases.

Conclusion: The basic difficulty encountered during the ILAE classification of this large group of patients was to classify the genetic causes that result in structural anomalies and congenital metabolic diseases. Previous experience, along with the findings of the present study, suggest that ILAE 2017 etiologic classification may be revised, genetic reasons resulting in structural and/or metabolic abnormalities should be classified under the name of genetic origin and that genetic titles should be divided into subgroups such as genetic metabolic, genetic structural, and other genetic categories.

Introduction: Multiple sclerosis (MS) is a multifactorial disease resulting from the interaction of genetic and environmental factors. Although several genetic polymorphisms have been associated with MS pathogenesis, the role of atypical chemokine receptors (ACKRs) remains insufficiently elucidated. Experimental studies suggest that CCRL2, an ACKR, may play a role in the chronic phase of the disease. This study aimed to investigate whether the CCRL2 F167Y polymorphism is associated with MS susceptibility, age at disease onset, and disease severity.

Methods: A total of 134 patients with MS, diagnosed according to the 2017 McDonald criteria, and 44 healthy controls were included. The CCRL2 F167Y (rs3204849) polymorphism was analyzed using the PCR-RFLP method. Genotype and allele frequencies and their associations with clinical parameters were evaluated using appropriate statistical analyses.

Results: No significant differences in genotype or allele distributions were observed between patients and controls. The F167Y polymorphism was not associated with MS susceptibility, age at onset, or EDSS scores.

Conclusion: The CCRL2 F167Y polymorphism is not associated with MS pathogenesis or disease severity in the Turkish population. However, the present findings need to be confirmed and reinforced in future studies using large-scale populations with different ethnicities.

Introduction: Contrast enhanced magnetic resonance imaging (MRI) could not be performed in all patients due to some contraindications. We aimed to demonstrate the characteristics of brain metastases that could be diagnosed with positron emission tomography - computed tomography (PET-CT) among patients with lung cancer.

Methods: Four hundred thirty nine patients diagnosed with lung cancer and brain metastasis between 2019 and 2023 were evaluated. A total of 642 brain metastasis lesions were identified, of which 286 were detectable on PET-CT. Univariate and multivariate logistic regression analyses were used to identify independent predictors of PET-CT positivity.

Results: Out of all patients, 86.6% were male and the mean ± SD age was 64.8±9.3. Comorbidities were present in 205 patients (46.7%), with chronic obstructive pulmonary disease (COPD) being the most prevalent (27.1%). The majority of metastases were located in the frontal lobe (37.2%) followed by the parietal lobe (26.6%). Notably, PET-CT negative lesions were more likely to have peritumoral edema than PET-CT positive lesions had (67% vs. 56%, p=0.004). The median tumor diameter for PET-CT positive lesions was larger than PET-CT negative lesions (18 vs 10 mm, p<0.001). The discriminative accuracy of tumor diameter in predicting PET-CT positivity was found to be high, with an area under the curve (AUC) of 0.70 (95% CI: 0.65 to 0.73). For an optimal cut-off value of 14 mm, sensitivity of tumor diameter was 71.68% and specificity was 58.71.

Conclusion: Brain metastases larger than 14 mm and those without peritumoral edema tend to have increased detectability with PET-CT in a large group of lung cancer patients. Since the diagnostic role of PET-CT could not be fully analyzed due to the study design, further research including patients without brain metastases is recommended.

Introduction: Multiple sclerosis (MS) is the leading cause of disability in young adults. We aimed to monitor disease progression characteristics using cognitive and physical parameters with optical coherence tomography (OCT) and Magnetic Resonance Spectroscopy (MRS).

Methods: Fifteen relapsing remitting (RRMS), thirteen secondary progressive (SPMS) and twelve primary progressive (PPMS) patients were included. The Expanded Disability Status Scale (EDSS), Nine-Hole Peg Test (9 HPT), Timed 25-Foot Walk Test (T25FWT), Brief International Cognitive Assessment for Multiple Sclerosis (BICAMS), Montreal Cognitive Assessment (MoCA), MRS and OCT examinations were performed at baseline and follow-up.

Results: EDSS, Beck Depression Scale scores, 9-HPT and T25FWT duration scores were higher in the PPMS group compared to the other groups, whereas MoCA, SDMT, CVLT2, and BVMT-R scores were the lowest in this group. Retinal nerve fiber layer (RNFL) measurements in the right (p=0.023) and left (p=0.028) nasal quadrants were found to be higher in the RRMS group compared to the progressive groups. Baseline MRS showed a lower Thalamus myoinositol/creatinine (mI/Cr) ratio in progressed patients compared to stable patients (p=0.003). A cut-off value of baseline Thalamus mI/Cr ratio <0.066 for predicting disease progression based on baseline Thalamus mI/Cr was determined to be <0.066, with an 81.82% sensitivity, and 79.17% specificity, 64.29% positive predictive value (PPV), and 90.48% negative predictive value (NPV) (p=0.003).

Conclusion: Early detection of disease progression has critical importance for MS. Besides prognostic serum or cerebrospinal fluid biomarker tests, noninvasive methods such as disability scales and/or imaging techniques may have a significant impact and are easily replicable. As an advanced imaging technique, MRS has the potential for ongoing tissue inflammation. In parallel with that, we have obtained a cut-off thalamic mI/Cr ratio value as a significant predictor of disease progression in MS patients.

Introduction: Although there are several studies on the neuroanatomical mechanisms underlying Parkinson's disease (PD)-associated cognitive impairment, the clinical usefulness of the findings from these investigations is limited. In this study, we aimed to identify magnetic resonance imaging (MRI) markers that can be practically utilized for diagnosing PD-associated cognitive impairment using a visual rating scale (VRS).

Methods: Anatomical MRIs of cognitively normal (PD-CN), and PD with mild cognitive impairment (PD-MCI) patients were visually evaluated for six bilateral cortical regions. Then, hypothesis-driven cortical thickness analysis (CTA) was performed in the regions obtained from VRS.

Results: As a consequence of VRS, a significant difference was found between the two groups with regards to right posterior atrophy (PA) scores (pFDR-corr = 0.042, Cohen's d= 1.06). Hypothesis-driven CTA confirmed the result of VRS by revealing cortical thinning at the precuneus and parieto-occipital sulcus junction (Max. T= 6.171, P= 0.0006, MNI_{x, y, z} = 11.0, -62.2, 25.4). The area under the curve was 0.75, showing a good association between the PD-MCI and the right PA score. The cut-off for maximum accuracy was ≥ 2, based on the highest sum of sensitivity (0.68) and specificity (0.72).

Conclusions: Our findings indicate that right PA atrophy may be helpful for clinicians in the diagnosis of PD-associated cognitive impairment.

Introduction: This study investigates the relationship between NQO1 and NQO2 gene polymorphisms and methamphetamine-associated psychosis (MAP) in the Makassar population.

Methods: Case-Control Study to determine the role of the NQO1 and NQO2 genes in the onset of psychotic symptoms due to methamphetamine abuse. The control group consists of individuals who consume methamphetamine without psychotic characteristics (n=139), while the case group consists of individuals who consume methamphetamine with psychotic characteristics (n=128).

Results: The NQO1 gene polymorphism demonstrates a significant association with the duration of MAP, with the TT genotype and the T allele occurs more frequently in prolonged cases. The CT genotype is linked to an increased risk of spontaneous relapse, while the TT genotype is more prevalent among patients with polysubstance abuse. Additionally, the NQO2 (I/D) gene polymorphism indicates a trend towards differential genotype distribution in patients with MAP, with the DD genotype appearing more frequently in prolonged cases, and the I allele associated with a heightened risk of spontaneous relapse.

Conclusion: These findings suggest that polymorphisms in the NQO1 and NQO2 genes may play a role in the susceptibility to and clinical manifestations of MAP within the Makassar population.

Introduction: Myasthenia gravis (MG) is an autoimmune disease characterized by conduction defects at the neuromuscular junction. Recent studies suggest that impairment in acetylcholine neurotransmission occurs not only at the neuromuscular junction but also in the central and peripheral nervous systems. In this context, we aimed to investigate the presence of auditory and olfactory dysfunction, which are non-motor symptoms (NMS), alongside motor symptoms in patients with MG.

Methods: A total of 30 MG patients and 30 healthy controls were enrolled in the study. Demographic characteristics of all participants were recorded. Olfactory functions were assessed using the Connecticut Chemosensory Clinical Research Center (CCCRC) test, while auditory functions were evaluated through pure tone audiometry (PTA) and tympanometric assessment. Additionally, patients were evaluated with MG Foundation of America (MGFA) Clinical Classification, MG-Composite scoring (MGC) and MG-Quality of Life Questionnaire 15-item scale Turkish version (MG-QOL15-T).

Results: No statistically significant difference was found between the MG and control groups for the n-Butanol threshold test score, identification test score, and total test score, which are components of the CCCRC test. There was no significant correlation between the age of disease onset and olfactory scores. A statistically significant moderate negative correlation was found between disease duration and both identification and total olfactory scores (r=-0.447, p=0.013 and r=-0.374, p=0.042, respectively). In the PTA test, the hearing threshold at 2000 Hz frequency in the right ear of patients was higher compared to the control group, and this difference was found to be statistically significant. No association was found between the patients' olfactory and auditory functions with the MG-QOL15- T.

Conclusion: This study suggests partial impairment in olfactory and auditory functions, NMS, in MG patients; however, these findings do not seem to effect the patients' quality of life. It should be considered that MG may be accompanied not only by motor symptoms but also by NMS.