Further description of the phenotypic spectrum of neuronal ceroid lipofuscinosis type 11.

Autor:	Nóbrega PR; Division of Neurology, Universidade Federal do Ceara, Fortaleza, CE, Brazil; Centro Universitário Christus, Fortaleza, CE, Brazil., Paiva ARB; Neurogenetics Unit, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil; Mendelics Genomic Analysis, São Paulo, SP, Brazil., Amorim Junior AD; Neurology Department, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil., Lima PLGSB; Faculty of Medicine, Federal University of Ceara, Fortaleza, CE, Brazil., Cabral KSS; Neurology Department, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil., Barcelos IP; Neurology Department, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil., Pessoa ALS; Hospital Infantil Albert Sabin, Fortaleza, CE, Brazil; Universidade Estadual do Ceara, Fortaleza, CE, Brazil., Souza-Lima CFL; Hospital Oswaldo Cruz, Universidade Estadual de Pernambuco, Recife, PE, Brazil., Castro MAA; Neurogenetics Unit, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil; Mendelics Genomic Analysis, São Paulo, SP, Brazil., Freua F; Neurogenetics Unit, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil., Santos ES; Centro de Referência em Doenças Raras, Universidade Federal de Sergipe, Aracaju, SE, Brazil., Rocha MMV; Hospital Universitário de Lagarto, Universidade Federal de Sergipe, Aracaju, SE, Brazil., Maia RE; Departamento de Pediatria e Genética, Universidade Federal da Paraíba, João Pessoa, PB, Brazil., Araújo RS; Hospital Universitário de Lagarto, Universidade Federal de Sergipe, Aracaju, SE, Brazil; Hospital de Urgência de Sergipe, Aracaju, SE, Brazil., Ramos JDG; Unidad de Neuropediatría, Fundación Hospital pediátrico de la Misericordia, Bogotá DC, Colombia., Resende RG; Instituto de Olhos Carioca, Rio de Janeiro, RJ, Brazil., Carvalho GDS; Centro de Referência em Doenças Raras do Distrito Federal, Hospital de Apoio de Brasília, Brasília, DF, Brazil., Valença LPA; Centro de Ciências Médicas, Universidade Federal de Pernambuco, Recife, PE, Brazil., Lima de Carvalho JR Jr; Centro de Ciências Médicas, Universidade Federal de Pernambuco, Recife, PE, Brazil., Melo ES; Centro de Ciências Médicas, Universidade Federal de Pernambuco, Recife, PE, Brazil., Pedroso JL; Universidade Federal de São Paulo, Departamento de Neurologia, São Paulo, SP, Brazil., Barsottini OGP; Universidade Federal de São Paulo, Departamento de Neurologia, São Paulo, SP, Brazil., Houlden H; Dept of Neuromuscular Disease, UCL Institute of Neurology, Queen Sq, London; National Hospital for Neurology and Neurosurgery, Queen Sq, London., Kok F; Neurogenetics Unit, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil; Mendelics Genomic Analysis, São Paulo, SP, Brazil., Lynch DS; Dept of Neuromuscular Disease, UCL Institute of Neurology, Queen Sq, London; National Hospital for Neurology and Neurosurgery, Queen Sq, London; National Institute for Health and Care Research (NIHR) and University College London Hospitals, Biomedical Research Centre, London. Electronic address: david.lynch.13@ucl.ac.uk.
Jazyk:	angličtina
Zdroj:	Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Oct 09; Vol. 27 (1), pp. 101291. Date of Electronic Publication: 2024 Oct 09.
DOI:	10.1016/j.gim.2024.101291
Abstrakt:	Purpose: Ceroid lipofuscinosis type 11 (CLN11) is a very rare disease, being reported in only 13 unrelated families so far. Further reports are necessary to comprehend the clinical phenotype of this condition. This article aims to report 9 additional cases of CLN11 from 9 unrelated Latin American families presenting with relatively slow disease progression. Methods: This was a retrospective observational study including patients with CLN11. Patients were identified through an active search for granulin precursor gene (GRN) pathogenic variants across the entire database of next-generation sequencing of a commercial laboratory and by contacting attending physicians to check for clinical and radiologic findings compatible with a neuronal ceroid lipofuscinosis phenotype. Results: Nine CLN11 patients from unrelated families were evaluated. Age of onset varied between 3 to 17 years. The most common findings were visual impairment, cerebellar ataxia, seizures, myoclonus, and cognitive decline. One patient had a previously unreported finding of cervical, perioral, and tongue myoclonus. Most of the patients were able to walk unassisted after an average of 14.2 years (SD 4.76 y) from disease onset. Conclusion: 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. Competing Interests: Conflict of Interest The authors declare no conflicts of interest. (Copyright © 2024 The Authors. Published by Elsevier Inc. All rights reserved.)
Databáze:	MEDLINE
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