Further description of the phenotypic spectrum of neuronal ceroid lipofuscinosis type 11
We describe 9 new cases of a very rare type of neuronal ceroid lipofuscinosis (CLN11) from Latin America with a recurrent p.(Gln257ProfsTer27) and a novel p.(Cys83Ter) nonsense variant. Our findings suggest that a slowly progressive neuronal ceroid lipofuscinosis might be a clue for the diagnosis of CLN11.
Authors
- Anderson Rodrigues Brandão de Paiva (ORCID: https://orcid.org/0000-0002-8261-2275)
- David S. Lynch (ORCID: https://orcid.org/0000-0003-0615-7159)
- Rayana Elias Maia (ORCID: https://orcid.org/0000-0002-8574-0168)
- Gérson Carvalho
- Katiane Sayão Souza Cabral
- Orlando Graziani Póvoas Barsottini (ORCID: https://orcid.org/0000-0002-0107-0831)
- Fernando Freua (ORCID: https://orcid.org/0000-0001-9378-2539)
- Rosane Guazi Resende
- José Ronaldo Lima de Carvalho (ORCID: https://orcid.org/0000-0002-7024-1702)
- Paulo Ribeiro Nóbrega (ORCID: https://orcid.org/0000-0002-0021-9358)
- Matheus Augusto Araújo Castro (ORCID: https://orcid.org/0000-0003-0335-8799)
- Isabella Peixoto de Barcelos (ORCID: https://orcid.org/0000-0002-3843-4520)
- Eduardo Sousa de Melo (ORCID: https://orcid.org/0000-0002-0952-6653)
- José Luiz Pedroso (ORCID: https://orcid.org/0000-0002-1672-8894)
- Emerson de Santana Santos (ORCID: https://orcid.org/0000-0002-9175-2210)
- Fernando Kok (ORCID: https://orcid.org/0000-0002-7577-9122)
- Henry Houlden (ORCID: https://orcid.org/0000-0002-2866-7777)
- Antonio Duarte Amorim (ORCID: https://orcid.org/0000-0002-4911-5365)
- Luciana Patrizia Andrade Valença
- Carlos Frederico Leite Souza-Lima
- Margleice Marinho Vieira Rocha
- André Luis Santos Pessoa
- Pedro Lucas Grangeiro Sá Barreto Lima
- Rodrigo Santos Araújo
- Juan David Guevara Ramos
Institutions
- Universidade Estadual do Ceará (BR)
- Universidade Federal da Paraíba (BR)
- Universidade Federal de Sergipe (BR)
- Universidade Federal do Ceará (BR)
- Universidade Federal de Pernambuco (BR)
- Hospital de Base (BR)
- National Institute for Health and Care Research (GB)
- Hospital Universitário Oswaldo Cruz (BR)
- Unichristus (BR)
- Fundação Instituto de Pesca do Estado do Rio de Janeiro (BR)
- Instituto de Olhos de Goiânia (BR)
- Fundación Universitaria de Ciencias de la Salud (CO)
- Hospital Infantil Albert Sabin (BR)
- Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (BR)
- National Hospital for Neurology and Neurosurgery (GB)
- University College London (GB)
- Universidade Federal de São Paulo (BR)
Publication Details
- Journal
- Genetics in Medicine
- Published
- 2024-10-09
- DOI
- https://doi.org/10.1016/j.gim.2024.101291
- Citations
- 5
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 1.63
Funders
- Wellcome Trust
- National Institute for Health and Care Research
- University College London
- Medical Research Council
- University College London Hospitals Biomedical Research Centre
- Medical Research Foundation