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

doi:10.1016/j.gim.2024.101291

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Article

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

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2025

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

Abstract excerpt

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...

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Topics

Humans
Neuronal Ceroid-Lipofuscinoses

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Female

Male

Adolescent

Child

Phenotype

Child, Preschool

Retrospective Studies

Mutation

High-Throughput Nucleotide Sequencing

Age of Onset

Adult

Source

Open in PubMed

Identifiers

PMID: 39394881
DOI: 10.1016/j.gim.2024.101291

Genes

Provenance

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