Adriana Ulate-Campos1, Carmen Fons2, Jaume Campistol2, Loreto Martorell3, Ramón Cancho-Candela4, Jesús Eiris5, Eduardo López-Laso6, Mercedes Pineda7, Anna Sans8, Ramón Velázquez9. 1. Servicio de Neurología Pediátrica, Hospital Universitario Sant Joan de Déu, Barcelona, España. Electronic address: adrianaulate@hotmail.com. 2. Servicio de Neurología Pediátrica, Hospital Universitario Sant Joan de Déu, Barcelona, España; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, España. 3. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, España; Servicio de Genética Molecular, Hospital Universitario Sant Joan de Déu, Barcelona, España. 4. Unidad de Neurología Pediátrica, Servicio de Pediatría, Hospital Universitario Río Hortega, Valladolid, España. 5. Servicio de Neurología Pediátrica, Departamento de Pediatría, Hospital Clínico Universitario, Universidad de Santiago de Compostela, Santiago de Compostela, A Coruña, España. 6. Unidad de Neurología Pediátrica, Hospital Universitario Reina Sofía, Instituto Maimónides de Investigación Biomédica de Córdoba (IMIBIC), Córdoba, España. 7. Fundación Sant Joan de Déu, Barcelona, España. 8. Servicio de Neurología Pediátrica, Hospital Universitario Sant Joan de Déu, Barcelona, España. 9. Servicio de Neurología Infantil, Hospital Infantil Universitario La Paz, Madrid, España.
Abstract
BACKGROUND AND OBJECTIVE: Alternating hemiplegia in childhood (AHC) is a disease characterized by recurrent episodes of hemiplegia, tonic or dystonic crisis and abnormal ocular movements. Recently, mutations in the ATP1A3 gene have been identified as the causal mechanism of AHC. The objective is to describe a series of 16 patients with clinical and genetic diagnosis of AHC. PATIENTS AND METHOD: It is a descriptive, retrospective, multicenter study of 16 patients with clinical diagnosis of AHC in whom mutations in ATP1A3 were identified. RESULTS: Six heterozygous, de novo mutations were found in the ATP1A3 gene. The most frequent mutation was G2401A in 8 patients (50%) followed by G2443A in 3 patients (18.75%), G2893A in 2 patients (12.50%) and C2781G, G2893C and C2411T in one patient, respectively (6.25% each). CONCLUSIONS: In the studied population with AHC, de novo mutations were detected in 100% of patients. The most frequent mutations were D801N y la E815K, as reported in other series.
BACKGROUND AND OBJECTIVE: Alternating hemiplegia in childhood (AHC) is a disease characterized by recurrent episodes of hemiplegia, tonic or dystonic crisis and abnormal ocular movements. Recently, mutations in the ATP1A3 gene have been identified as the causal mechanism of AHC. The objective is to describe a series of 16 patients with clinical and genetic diagnosis of AHC. PATIENTS AND METHOD: It is a descriptive, retrospective, multicenter study of 16 patients with clinical diagnosis of AHC in whom mutations in ATP1A3 were identified. RESULTS: Six heterozygous, de novo mutations were found in the ATP1A3 gene. The most frequent mutation was G2401A in 8 patients (50%) followed by G2443A in 3 patients (18.75%), G2893A in 2 patients (12.50%) and C2781G, G2893C and C2411T in one patient, respectively (6.25% each). CONCLUSIONS: In the studied population with AHC, de novo mutations were detected in 100% of patients. The most frequent mutations were D801N y la E815K, as reported in other series.
Keywords:
ATP1A3 gen; Alternating hemiplegia of childhood; Bomba de sodio-potasio de trifosfato de adenosina; Gen ATP1A3; Hemiplejía alternante de la infancia; Sodium-potassium adenosine triphosphatase pump
Authors: Louis Viollet; Gustavo Glusman; Kelley J Murphy; Tara M Newcomb; Sandra P Reyna; Matthew Sweney; Benjamin Nelson; Frederick Andermann; Eva Andermann; Gyula Acsadi; Richard L Barbano; Candida Brown; Mary E Brunkow; Harry T Chugani; Sarah R Cheyette; Abigail Collins; Suzanne D DeBrosse; David Galas; Jennifer Friedman; Lee Hood; Chad Huff; Lynn B Jorde; Mary D King; Bernie LaSalle; Richard J Leventer; Aga J Lewelt; Mylynda B Massart; Mario R Mérida; Louis J Ptáček; Jared C Roach; Robert S Rust; Francis Renault; Terry D Sanger; Marcio A Sotero de Menezes; Rachel Tennyson; Peter Uldall; Yue Zhang; Mary Zupanc; Winnie Xin; Kenneth Silver; Kathryn J Swoboda Journal: PLoS One Date: 2015-05-21 Impact factor: 3.240