Headache and <i>NOTCH3</i> Gene Variants in Patients with CADASIL

• Main Authors: Oliwia Szymanowicz (Author), Izabela Korczowska-Łącka (Author), Bartosz Słowikowski (Author), Małgorzata Wiszniewska (Author), Ada Piotrowska (Author), Ulyana Goutor (Author), Paweł P. Jagodziński (Author), Wojciech Kozubski (Author), Jolanta Dorszewska (Author)
• Format: Book
• Published: MDPI AG, 2023-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Summary

Autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited vascular disease characterized by recurrent strokes, cognitive impairment, psychiatric symptoms, apathy, and migraine. Approximately 40% of patients with CADASIL experience migraine with aura (MA). In addition to MA, CADASIL patients are described in the literature as having migraine without aura (MO) and other types of headaches. Mutations in the <i>NOTCH3</i> gene cause CADASIL. This study investigated <i>NOTCH3</i> genetic variants in CADASIL patients and their potential association with headache types. Genetic tests were performed on 30 patients with CADASIL (20 women aged 43.6 ± 11.5 and 10 men aged 39.6 ± 15.8). PCR-HRM and sequencing methods were used in the genetic study. We described three variants as pathogenic/likely pathogenic (p.Tyr189Cys, p.Arg153Cys, p.Cys144Arg) and two benign variants (p.Ala202=, p.Thr101=) in the <i>NOTCH3</i> gene and also presented the <i>NOTCH3</i> gene variant (chr19:15192258 G>T), which has not been previously described in the literature. Patients with pathogenic/likely pathogenic variants had similar headache courses. People with benign variants showed a more diverse clinical picture. It seems that different <i>NOTCH3</i> variants may contribute to the differential presentation of a CADASIL headache, highlighting the diagnostic and prognostic value of headache characteristics in this disease.

Item Description

10.3390/neurolint15040078
2035-8377