BACKGROUND AND PURPOSE: Familial hemiplegic migraine is characterized by recurrent migraine, hemiparesis, and ataxia. Causes may be mutations in calcium and sodium channels or in a subunit of the Na/K-ATPse. Migraine treatment with calcium channel blockers was only successful in some patients. Summary of Case- We describe a 6-year-old girl with recurrent ischemic strokes after minor head trauma associated with seizures, hemiparesis, fever, and altered consciousness. Genetic analysis revealed a spontaneous, novel dominant CACNA1A mutation (c.4046G→A, p.R1349Q) that removed a highly conserved arginine of the voltage sensing region of the P/Q-type Ca(v)2.1 channel. Because a homologous mutation in the tottering-5J mouse increased open probability of the channel as well as calcium influx, we treated the patient with the calcium channel blocker verapamil during characteristic prodromi after head trauma. Treatment was instantly effective and prevented a new stroke. CONCLUSIONS: CACNA1A mutations should be considered in the diagnostic workup of childhood stroke, especially if associated with ataxia and migraine.
BACKGROUND AND PURPOSE:Familial hemiplegic migraine is characterized by recurrent migraine, hemiparesis, and ataxia. Causes may be mutations in calcium and sodium channels or in a subunit of the Na/K-ATPse. Migraine treatment with calcium channel blockers was only successful in some patients. Summary of Case- We describe a 6-year-old girl with recurrent ischemic strokes after minor head trauma associated with seizures, hemiparesis, fever, and altered consciousness. Genetic analysis revealed a spontaneous, novel dominant CACNA1A mutation (c.4046G→A, p.R1349Q) that removed a highly conserved arginine of the voltage sensing region of the P/Q-type Ca(v)2.1 channel. Because a homologous mutation in the tottering-5J mouse increased open probability of the channel as well as calcium influx, we treated the patient with the calcium channel blocker verapamil during characteristic prodromi after head trauma. Treatment was instantly effective and prevented a new stroke. CONCLUSIONS:CACNA1A mutations should be considered in the diagnostic workup of childhood stroke, especially if associated with ataxia and migraine.
Authors: Benjamin J Grosso; Audra A Kramer; Sidharth Tyagi; Daniel F Bennett; Cynthia J Tifft; Precilla D'Souza; Michael F Wangler; Ellen F Macnamara; Ulises Meza; Roger A Bannister Journal: Sci Rep Date: 2022-06-02 Impact factor: 4.996
Authors: Maria Isabel Bahamonde; Selma Angèlica Serra; Oliver Drechsel; Rubayte Rahman; Anna Marcé-Grau; Marta Prieto; Stephan Ossowski; Alfons Macaya; José M Fernández-Fernández Journal: PLoS One Date: 2015-12-30 Impact factor: 3.240
Authors: Mercè Izquierdo-Serra; Antonio F Martínez-Monseny; Laura López; Julia Carrillo-García; Albert Edo; Juan Darío Ortigoza-Escobar; Óscar García; Ramón Cancho-Candela; M Llanos Carrasco-Marina; Luis G Gutiérrez-Solana; Daniel Cuadras; Jordi Muchart; Raquel Montero; Rafael Artuch; Celia Pérez-Cerdá; Belén Pérez; Belén Pérez-Dueñas; Alfons Macaya; José M Fernández-Fernández; Mercedes Serrano Journal: Int J Mol Sci Date: 2018-02-22 Impact factor: 5.923