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Clinical Trials/NCT04287881
NCT04287881CompletedNot Applicable

Investigation the Incidence of Methylenetetrahydrofolate Reductase Deficiency in Ischemic Cerebrovascular Diseases Presenting With Epileptic Seizures in Adults

Istanbul Medeniyet University4 sites in 1 country32 target enrollmentStarted: October 31, 2019Last updated:
Conditions

Trial Snapshot

Phase
Not Applicable
Status
Completed
Sponsor
Enrollment
32
Locations
4
Primary Endpoint
Methylenetetrahydrofolate reductase (MTHFR) deficiency

Study Overview

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.

Study Design

Study Type
Interventional
Allocation
Na
Intervention Model
Single Group
Primary Purpose
Screening
Masking
None

Eligibility Criteria

Sex
All
Accepts Healthy Volunteers
No

Inclusion Criteria

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

Exclusion Criteria

  • Pediatric patients with epileptic seizures

Outcomes

Primary Outcomes

Methylenetetrahydrofolate reductase (MTHFR) deficiency

Time Frame: Up to 6 weeks

The incidence of methylenetetrahydrofolate reductase (MTHFR) deficiency in ischemic stroke

Secondary Outcomes

No secondary outcomes reported

Investigators

Sponsor
Istanbul Medeniyet University
Sponsor Class
Other
Responsible Party
Principal Investigator
Principal Investigator

Zeynep Nur Orhon

Principal Investigator

Istanbul Medeniyet University

Study Sites (4)

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