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

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 pr...

Full description

Saved in:

Bibliographic Details
Published in:	Genetics in medicine Vol. 27; no. 1; p. 101291
Main Authors:	Nóbrega, Paulo Ribeiro, Paiva, Anderson Rodrigues Brandão, Amorim Junior, Antonio Duarte, Lima, Pedro Lucas Grangeiro Sá Barreto, Cabral, Katiane Sayão Souza, Barcelos, Isabella Peixoto, Pessoa, André Luis Santos, Souza-Lima, Carlos Frederico Leite, Castro, Matheus Augusto Araújo, Freua, Fernando, Santos, Emerson de Santana, Rocha, Margleice Marinho Vieira, Maia, Rayana Elias, Araújo, Rodrigo Santos, Ramos, Juan David Guevara, Resende, Rosane Guazi, Carvalho, Gerson da Silva, Valença, Luciana Patrizia Andrade, Lima de Carvalho, José Ronaldo, Melo, Eduardo Sousa, Pedroso, José Luiz, Barsottini, Orlando Graziani Povoas, Houlden, Henry, Kok, Fernando, Lynch, David S.
Format:	Journal Article
Language:	English
Published:	United States Elsevier Inc 01-01-2025
Subjects:	CLN11 disease GRN GRN-related neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 11 Progranulin GRN-related neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 11 CLN11 disease GRN Progranulin GRN-Related Neuronal Ceroid-Lipofuscinosis CLN11 Disease
Online Access:	Get full text
Tags:	Add Tag No Tags, Be the first to tag this record!

Description
Summary:	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. 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. 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. 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.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	1098-3600 1530-0366 1530-0366
DOI:	10.1016/j.gim.2024.101291