Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings.

Autor: Paiva ARB; Mendelics Genomic Analysis, São Paulo, SP, Brazil arbrandaopaiva@gmail.com.; Neurology Department, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil.; Neurology Department, Hospital São Rafael - Rede D'or São Luiz, Salvador, BA, Brazil., Pessoa ALS; Hospital Infantil Albert Sabin, Fortaleza, CE, Brazil.; Universidade Estadual do Ceara, Fortaleza, CE, Brazil., Nóbrega PR; Neurology Department, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil.; Neurology Department, Universidade Federal do Ceará, Fortaleza, CE, Brazil., Moreno CAM; Mendelics Genomic Analysis, São Paulo, SP, Brazil.; Neurology Department, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil., Lynch DS; Department of Neurogenetics, National Hospital for Neurology & Neurosurgery, Queen Square, London, UK.; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Taniguti LM; Mendelics Genomic Analysis, São Paulo, SP, Brazil., Kitajima JP; Mendelics Genomic Analysis, São Paulo, SP, Brazil., Freua F; Neurology Department, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil.; Neurology Department, Beneficência Portuguesa de São Paulo, São Paulo, SP, Brazil., Della-Ripa B; Mendelics Genomic Analysis, São Paulo, SP, Brazil.; Neurology Department, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil., Cunha P; Neurology Department, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil.; Institut du Cerveau (ICM), APHP, Pitié Salpêtrière Hospital, Paris, France., Peixoto de Barcelos I; Neurology Department, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil.; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Macedo-Souza LI; Centro de Estudos do Genoma Humano, Universidade de São Paulo, Sao Paulo, SP, Brazil., Takeuchi CA; Sabará Hospital Infantil, São Paulo, SP, Brazil., Garcia AMS; Hospital Regional Dom Moura, Garanhuns, PE, Brazil., Nardes F; Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brazil., Fontão R; Neuropediatrics, Penna Hospital, Bahía Blanca, Buenos Aires, Argentina., Antoniuk SA; Universidade Federal do Paraná, Curitiba, PR, Brazil., Troncoso M; Pediatric Neurology Department, Hospital Clínico San Borja Arriarán, University of Chile, Santiago, Chile., Spécola N; Hospital de Niños Sor María Ludovica, La Plata, Argentina., Durand C; Laboratorio de Neuroquímica Dr. N.A. Chamoles, Buenos Aires, Argentina., Madeiro BACS; Hospital Universitário Oswaldo Cruz, Universidade de Pernambuco, Recife, PE, Brazil., Doriqui MJR; Public Health Department, Universidade Federal do Maranhão, São Luís, MA, Brazil., Vergara D; Pediatric Neurology Department, Hospital Clínico San Borja Arriarán, University of Chile, Santiago, Chile., Houlden H; Department of Neurogenetics, National Hospital for Neurology & Neurosurgery, Queen Square, London, UK.; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Kok F; Mendelics Genomic Analysis, São Paulo, SP, Brazil.; Neurology Department, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil.

Publikováno v: Journal of neurology, neurosurgery, and psychiatry [J Neurol Neurosurg Psychiatry] 2023 May; Vol. 94 (5), pp. 405-408. Date of Electronic Publication: 2023 Feb 03.