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Phenotypic/Genotypic Profile of Children with Neuronal Ceroid Lipofuscinosis in Southern Brazil.
Santos, Berkmis Viana; de Souza, Josiane; Zeny, Michelle Silva; Santos, Mara Lúcia Schmitz Ferreira; do Valle, Daniel Almeida.
Afiliación
  • Santos BV; Department of Neurology, Hospital Pequeno Príncipe, Curitiba, Paraná, Brazil.
  • de Souza J; Departament of Medical Genetic, Hospital Pequeno Príncipe, Curitiba, Paraná, Brazil.
  • Zeny MS; Department of Neurology, Hospital Pequeno Príncipe, Curitiba, Paraná, Brazil.
  • Santos MLSF; Department of Neurology, Hospital Pequeno Príncipe, Curitiba, Paraná, Brazil.
  • do Valle DA; Department of Neurology, Hospital Pequeno Príncipe, Curitiba, Paraná, Brazil.
Neuropediatrics ; 55(5): 303-310, 2024 10.
Article en En | MEDLINE | ID: mdl-38857616
ABSTRACT

INTRODUCTION:

Neuronal ceroid lipofuscinoses (CLNs) are a group of lysosomal storage disorders of genetic origin, characterized by progressive neurodegeneration and intracellular accumulation of autofluorescent lipopigment. Thirteen genes related to CLNs are currently described, showing genetic and allelic heterogeneity, most of them with an autosomal recessive pattern. Due to the few descriptions of cases related to CLNs in Brazil, it is necessary to describe the phenotypic and genotypic characteristics of these patients. This study aims to evaluate the genotypic profile and correlate it with the phenotypic characteristics of patients with CLN in a children's hospital.

METHODS:

This study was performed as a descriptive cross-sectional study with analysis of medical records, imaging, and laboratory tests of patients who had a confirmed molecular diagnosis of CLN.

RESULTS:

The sample consisted of 11 patients from nine families with different subtypes of CLNs (CLN2, 5, 6, 7, and 8), with CLN2 being the most prevalent in the study. A total of 16 mutation variants were identified in genes associated with the five CLNs described in this study, with typical and atypical clinical phenotypes depending on the subtype and its variants.

CONCLUSION:

Novel mutations identified in the patients in this study showed phenotypes of rapid and severe progression in the CLN2 patient and similar characteristics in CLN6 and CLN7 patients, as previously described in the literature.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Lipofuscinosis Ceroideas Neuronales Límite: Adolescent / Child / Child, preschool / Female / Humans / Male País/Región como asunto: America do sul / Brasil Idioma: En Revista: Neuropediatrics Año: 2024 Tipo del documento: Article País de afiliación: Brasil Pais de publicación: Alemania
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Lipofuscinosis Ceroideas Neuronales Límite: Adolescent / Child / Child, preschool / Female / Humans / Male País/Región como asunto: America do sul / Brasil Idioma: En Revista: Neuropediatrics Año: 2024 Tipo del documento: Article País de afiliación: Brasil Pais de publicación: Alemania