Methylenetetrahydrofolate Reductase Deficiency in Ischemic Stroke

NCT ID: NCT04287881

Last Updated: 2020-02-27

Basic Information

• Recruitment Status: COMPLETED
• Clinical Phase: NA
• Total Enrollment: 32 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2019-10-31
• Study Completion Date: 2020-02-20

Brief Summary

Adult onset epileptic seizures is rare and often associated with metabolic disorders, drugs and intracranial pathologies such as ischemia, hemorrhage or space-occupying lesions. Methylenetetrahydrofolate reductase (MTHFR) deficiency is one of the reasons that cause epileptic seizures in adults and can be ignored. MTHFR deficiency is an autosomal recessive disorder that results in hyperhomocysteinemia and causes a predisposition to venous and arterial thrombosis. The incidence of the polymorphism is around 40% in some countries. The aim of the retrospective study is to investigate the incidence of MTHFR deficiency in patients with adult-onset epileptic seizures.

Detailed Description

Epileptic seizures that begin in adulthood seriously affect patients, their relatives and the society in which they live financially and psychologically. The etiology of epileptic seizures starting at adult age includes head trauma, central nervous system infections, intracranial lesions, cerebrovascular events, metabolic diseases and drugs. While the causes of childhood epileptic seizures are generally considered idiopathic, adult-onset epileptic seizures are almost always due to a pathological process. Epileptic seizures in adults may be a symptom of ischemic stroke. MTHFR deficiency is associated with raised homocysteine concentration in the body and increased risk of stroke (1). Studies have demonstrated that hyperhomocysteinemia is an independent risk factor for stroke (2).

MTHFR is the key enzyme in remethylation of homocysteine to methionine. MTHFR deficiency is an autosomal-recessive disease characterized by high homocysteine and low or normal methionine. MTHFR deficiency can cause vascular thrombosis in adults at early age; increased osteoporosis in elderly people; deep vein thrombosis, abortus during pregnancy; and infertility in adult males. In children, it is associated with intrauterine growth retardation, congenital heart diseases, neural tube defects, chromosome anomalies and hematologic tumors. In any age group, it might cause convulsions, increased thrombosis risk with some anticonvulsants and with the use of nitrogen protoxide in surgeries, and neuromotor retardation (3).

The aim of this retrospective study is to investigate the incidence of MTHFR deficiency in patients presenting with adult-onset epileptic seizures and diagnosed as ischemic cerebrovascular disease as a result of diagnostic tests.

Conditions

Hyperhomocysteinemia, Thrombotic, Cbs-Related; Ischemic Stroke; Epilepsy

Study Design

• Allocation Method: NA
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: SCREENING
• Blinding Strategy: NONE

Study Groups

Adult patients who have epileptic seizures

Patients with adult-onset epileptic seizures and diagnosed ischemic stroke.

Group Type: OTHER

Methylenetetrahydrofolate reductase (MTHFR) deficiency

Intervention Type: GENETIC

To investigate the incidence of MTHFR deficiency in patients with adult-onset epileptic seizures and diagnosed ischemic stroke

Interventions

Methylenetetrahydrofolate reductase (MTHFR) deficiency

To investigate the incidence of MTHFR deficiency in patients with adult-onset epileptic seizures and diagnosed ischemic stroke

Intervention Type: GENETIC

Eligibility Criteria

Inclusion Criteria

• The patients with adult-onset epileptic seizures and diagnosed ischemic stroke in 3 years period.

Exclusion Criteria

• Pediatric patients with epileptic seizures

• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Istanbul Medeniyet University

OTHER

Sponsor Role: lead

Responsible Party

Zeynep Nur Orhon

Principal Investigator

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

ZEYNEP ORHON, MD

Role: PRINCIPAL_INVESTIGATOR

Istanbul Medeniyet University

Locations

Zeynep Orhon

Istanbul, , Turkey (Türkiye)

Istanbul MU Goztepe Training and Research Hospital

Istanbul, , Turkey (Türkiye)

Countries

Turkey (Türkiye)

Other Identifiers

İstanbulMUZEYNEP2

Identifier Type: -

Identifier Source: org_study_id