Trigeminal Neuralgia
Conditions
Keywords
genetic mutations, voltage gated sodium channels, phenotype,
Brief summary
The most common cause of trigeminal neuralgia is considered to be a neurovascular contact. However, this etiological factor only seem to be present in half of the patient group. Thus the etiology of the other half is unknown. Gain-of function genetic mutations in voltage gated sodium channels have been hypothesized as playing a role in the etiology of trigeminal neuralgia but it has yet to be confirmed. In recent years gain-of-function mutations have been identified as a causative factor in other pain-diseases presenting with trigeminal neuralgia phenotypic similarities.
Detailed description
The aim of this study was to indentify VGSC gene mutations, specifically SCN9A, SCN10A and SCN11A genes, in a group of well characterized trigeminal neuralgia patients. Setting: The study will be conducted at The Danish Headache Center, Rigshospitalet - Glostrup, Denmark (inclusion of patients and written Informed Consent, patient interview, phenotyping/diagnosis, neurological examination, blood sample. Departments of Neurology and Clinical Genomics of the Maastricht University Medical Center, Maastricht, the Netherlands: Targeted NG Sanger Sequencing
Interventions
OTHERObservational
No intervention is conducted as the study aim is to explore the link between pheno- and genetype of trigeminal neuralgia
Sponsors
Maastricht University Medical Center
Danish Headache Center
Study design
Observational model
COHORT
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
3.1. Inclusion Criteria Subjects of both sexes with TN must meet the following inclusion criteria to be eligible for participation: 1. Patients must be able to give Signed Informed Consent prior to study entry 2. Patients fulfilling of the ICHD-3 beta diagnostic criteria for classical TN.1 3. Age 18 years or older. 4. Age at debut \< 42 years and/or confirmed first-line relative with TN. 5. Respond to sodium channel blockers with a 50% reduction of pain intensity evaluated by both the patient and the examining physician using the visual analog scale (VAS). 3.2.
Exclusion criteria
Subjects will be excluded if one of the following
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Exploratory study of association between phenotype and genotype of trigeminal neuralgia | 1 day | To identify genetic mutations, via Sanger Next Generation Sequencing, in either NaV 1.7, NaV1.8 or NaV1.9 encoding genes and link the findings to the phenotype of trigeminal neurlagia patients with a high genetic load. |
Outcome results
None listed