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

Affiliations

• ¹ Mendelics Genomic Analysis, São Paulo, SP, Brazil arbrandaopaiva@gmail.com.
• ² Neurology Department, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil.
• ³ Neurology Department, Hospital São Rafael - Rede D'or São Luiz, Salvador, BA, Brazil.
• ⁴ Hospital Infantil Albert Sabin, Fortaleza, CE, Brazil.
• ⁵ Universidade Estadual do Ceara, Fortaleza, CE, Brazil.
• ⁶ Neurology Department, Universidade Federal do Ceará, Fortaleza, CE, Brazil.
• ⁷ Mendelics Genomic Analysis, São Paulo, SP, Brazil.
• ⁸ Department of Neurogenetics, National Hospital for Neurology & Neurosurgery, Queen Square, London, UK.
• ⁹ Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
• ¹⁰ Neurology Department, Beneficência Portuguesa de São Paulo, São Paulo, SP, Brazil.
• ¹¹ Institut du Cerveau (ICM), APHP, Pitié Salpêtrière Hospital, Paris, France.
• ¹² Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
• ¹³ Centro de Estudos do Genoma Humano, Universidade de São Paulo, Sao Paulo, SP, Brazil.
• ¹⁴ Sabará Hospital Infantil, São Paulo, SP, Brazil.
• ¹⁵ Hospital Regional Dom Moura, Garanhuns, PE, Brazil.
• ¹⁶ Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brazil.
• ¹⁷ Neuropediatrics, Penna Hospital, Bahía Blanca, Buenos Aires, Argentina.
• ¹⁸ Universidade Federal do Paraná, Curitiba, PR, Brazil.
• ¹⁹ Pediatric Neurology Department, Hospital Clínico San Borja Arriarán, University of Chile, Santiago, Chile.
• ²⁰ Hospital de Niños Sor María Ludovica, La Plata, Argentina.
• ²¹ Laboratorio de Neuroquímica Dr. N.A. Chamoles, Buenos Aires, Argentina.
• ²² Hospital Universitário Oswaldo Cruz, Universidade de Pernambuco, Recife, PE, Brazil.
• ²³ Public Health Department, Universidade Federal do Maranhão, São Luís, MA, Brazil.