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PRRT2 mutations cause hemiplegic migraine.

Florence Riant¹, Emmanuel Roze, Cecile Barbance

¹Groupe Hospitalier Lariboisière-Fernand Widal, Laboratoire de Génétique, Paris. florence.riant@lrb.aphp.fr

|October 19, 2012

Summary

This summary is machine-generated.

Mutations in the PRRT2 gene can occasionally cause hemiplegic migraine (HM), a rare migraine subtype. This finding expands the known spectrum of PRRT2-related disorders, highlighting its role in early-onset neurological conditions.

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Area of Science:

Genetics
Neurology
Molecular Biology

Background:

Hemiplegic migraine (HM) is a rare migraine subtype with aura, presenting as familial or sporadic.
Existing genetic research has identified three genes for familial HM, but these do not explain all cases.
PRRT2 mutations are linked to various childhood-onset episodic syndromes, including paroxysmal kinesigenic dyskinesia and epilepsy.

Purpose of the Study:

To investigate the potential role of PRRT2 gene mutations in hemiplegic migraine.
To explore PRRT2 as a candidate gene for HM, particularly in early-onset cases.

Main Methods:

Sequenced the entire coding region of the PRRT2 gene in 101 patients with early-onset HM.
Excluded patients with mutations in the three known HM genes.
Analyzed affected relatives of patients with identified PRRT2 mutations.

Main Results:

Identified PRRT2 mutations in 4 out of 101 index cases.
Found previously reported c.649dupC mutation in two patients and a novel c.649delC mutation in two others.
One patient with a PRRT2 mutation later developed paroxysmal dyskinesia and epileptic seizures.

Conclusions:

PRRT2 mutations are an occasional cause of hemiplegic migraine.
This finding broadens the phenotypic spectrum associated with PRRT2 mutations.
Suggests PRRT2 as a gene to consider in the genetic diagnosis of early-onset HM.