SM Journal of Neurology and Neuroscience

Archive Articles

Article Image 1

Cdk5 and Folate Gene Variants may Regulate Efficacy of Pharmaceutical Intervention in ADHD Probands

Aim: Therapeutic intervention forms crucial part in ADHD management. However, treatment is often discontinued due to adverse outcome. We attempted to find out gene variants which may predict treatment outcome.

Patients & Methods: ADHD patients recruited through DSM-IV, were assessed through Conner’s Parent Rating Scale and Drug side effect rating scale. CDK5 and folate gene variants were analyzed by sequencing and RFLP based genotyping.

Results: MPH treatment caused significant improvement in presence of MTHFR rs1801131 “C”, while ATX caused improvement in presence of MTR rs1805087 “G”. Behavioural problem and hyperactivity improved in presence of CDK5 rs2069459 “TT”. Studied variants showed significant independent as well as interactive effects which correlated with phenotypes.

Conclusion: We hypothesize that genes encoding for CDK5 and folate may modulate post-treatment outcome of ADHD by affecting function of MPH.

Subhamita Maitra¹,², Tanusree Saha¹,³, Mahasweta Chatterjee¹, Anirban Ray⁴, Swagata Sinha¹, and Kanchan Mukhopadhyay¹*


Article Image 1

A Case Report of Megalencephalic Leukoencephalopathy with Subcortical Cysts

Megalencephalic leukoencephalopathy with subcortical cysts is a rare degenerative disease first described by Vander knap1.

Megalencephalic leukoencephalopathy with subcortical cysts is clinically characterized by macrocephaly, mild motor developmental delay, and seizures. Later, patients may develop gradual onset of ataxia and pyramidal features and mental deterioration. The combination of clinical findings and MRI features is essential for the diagnosis.The condition is inherited as an autosomal recessive pattern and the gene locus has been mapped to MLC 1 at chromosome 22q.

We report a case of young male with neuroregression and intractable seizures. On detailed workup and genetic analysis the patient is found to have a rare neurodegenerative condition the Vander knap disease.

Sampath Kumar NS, Shyam Sundar M, Sangamithra G*, and Surya Teja P


Article Image 1

Relationship between Serum Vitamin D Level, Interferon Alpha and Psychological Disorders in Patients with SLE (Systemic Lupus Erythematosus)

Background: In different studies, the correlation between systemic lupus erythematosus (SLE) and disease activity with vitamin D has been shown. Also, low level of vitamin D and interferon alpha was associated with psychological disorders but there wasn’t more evidence about the relationship between vitamin D deficiency and psychological disorders.

Objective: This study aimed to investigate Relationship between serum vitamin D level, interferon alpha and psychological disorders in patients with SLE.

Methods: In this cross-sectional descriptive study, 50 SLE patients were recruited. Serum 25-OH Vitamin D concentration and IFN-α levels and also, levels of SLEDAI were measured. Statistical methods were used to determine the correlation between vitamin D and IFN-α and also the correlation between INF-α with Depression, Stress and Anxiety scores in SLE patients.

Results: Vitamin D deficiency (<40 nmol/L) was detected in 20% of SLE patients. The mean Vitamin D and INF-α in SLE patients was 23.94 ± 11.93 and 396.60 ± 54.73, respectively. There was significantly negative correlation between vitamin D and depression (r=-0.479, p=0.001) and Anxiety (r=-0.34, p=0.01) but the relation between vitamin D and stress wasn’t significant. Of all SLE patients, 56% had depression, 64% had anxiety and 66% had stress in very severe level.

Conclusion: Results showed that the level of vitamin D was negatively correlated with depression and anxiety of patients. Also, it seems that, by increasing the QOL of patients and decreasing the rate of depression and anxiety in SLE patients we could improve the vitamin D level and then SLEDAI.

Afsaneh Enteshari-Moghaddam¹, Ahad Azami¹*, Yusef Mohammadi-Kebar¹, and Saeid Sadeghieh-Ahari²


Article Image 1

Frequency and Clinical Characteristics of Patients with Subarachnoid Hemorrhage (SAH) referred to Ardabil Hospital during 2012-2017

Background and Objective: Subarachnoid Hemorrhage (SAH) usually occurs due to the rupture of a cerebral artery aneurysm. About 9 million people suffer worldwide. According to the importance of SAH in the province, the aim of this study was to investigate the Frequency and clinical characteristics of patients with Subarachnoid Hemorrhage (SAH).

Methods: This descriptive cross-sectional study was performed on 109 patients with SAH who were referred to Alavi Hospital during 2012-2017. Demographic data and clinical information were extracted from the patient’s hospital records and then analyzed by statistical methods in SPSS version 21.P-value less than 0.05 was considered significant.

Results: The mean age of patients was 58.33 ± 14.39 years. 63 patients (58.8%) were female and the rest were male. The most common past medical history was high blood pressure. The most common symptom was headache. 77 patients (77.6%) died. There was a meaningful relationship between sex and the mortality of patients. The most common angiographically confirmed aneurysm was MCA; seen in 34% of the angiograms. SAH was visible on CT-scan in 70.7% of patients. The most prevalent symptom in the first three months after surgery was motor symptoms. 27.5% of the surviving patients had memory problem, being the most common residual symptom in the first 6 months after surgery.

Conclusion: The most common presenting symptom in patients with subarachnoid hemorrhage is headache. A majority of patients had a history of high blood pressure. A majority of the patients died during the initial hospitalization. We conclude that patients with high blood pressure and acute thunderclap headache should undergo emergent diagnostic work-up to rule our aneurismal subarachnoid hemorrhage.

Ghasem Fattahzadeh-Ardalani¹, Vahid Abbasi¹*, Afshan Sharghi², Abolfazl Atalu¹, and Reza Shirinkar³


Article Image 1

Risk Factors and Clinical Manifestations of Cerebral Venous Thrombosis (CVT) in Patients Admitted to Ardabil City Hospitals during 2012-2017

Background and Objective: In Cerebral venous thrombosis (CVT), blood clots create in the veins and sinuses. Detection of disease due to the wide spectrum of clinical symptoms may be delayed, the importance of timely diagnosis of this disease is that with early treatment, death can be avoided and serious and lifelong complications can be prevented in many patients. Also, recognizing the underlying causes and other factors that contribute to the onset of the disease can prevent the disease.

Methods: This cross-sectional descriptive study has been done on 28 patients diagnosed with cerebral venous sinus thrombosis during years 2012 to 2017 that hospitalized in Ardabil city hospital. Demographic data of patients and information about laboratory tests and clinical and Para-clinical findings were entered in a checklist and then analyzed by statistical methods in SPSS version 19.

Results: The mean age of the patients was 36.6 ± 8.7 years and most of them were in age group less than 30. Of all patients, 53.6% were female. The most prevalent symptoms and signs among patients was headache. Upper sagittal sinus with 50% was the most prevalent involved vein. 53.4% of women were taking oral contraceptive pills (OCP) and 46.2% of male patients had smoking and drug addiction. Thrombotic occlusion often affected the sagittal and then transverse sinuses. 10 cases (35.7%) had findings based on ischemia and 4 (14.3%) had intracranial hemorrhage.

Conclusion: The results showed that the high incidence of CVT in females was more than males which can be the sign for relation between CVT with factors such as OCP use and pregnancy. Also regarding to the vomiting and dizziness as the most common clinical symptoms in patients so it can be a means of distinguishing headaches caused by the disease with other common headaches and help in diagnosis.

Abolfazl Atalu¹, Ghasem Fattahzadeh-Ardalani¹*, Afshan Sharghi², and Hamed Ezzativand³