Expanding the phenotypic spectrum of CLCN2-related leucoencephalopathy and ataxia

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art_NOBREGA_Expanding_the_phenotypic_spectrum_of_CLCN2related_leucoencephalopathy_and_2023.PDF (938.84 KB)
Citações na Scopus
0
Tipo de produção
article
Data de publicação
2023
DOI
Scopus
Web of Science
PubMed
Título da Revista
ISSN da Revista
Título do Volume
Editora
OXFORD UNIV PRESS
Autores
NOBREGA, Paulo R.
PAIVA, Anderson R. B. de
SOUZA, Jorge Luiz B. de
LIMA, Pedro Lucas G. S. B.
SILVA, Delson Jose da
BORGES, Viviennee K.
DIAS, Daniel A.
BISPO, Luciana M.
Citação
BRAIN COMMUNICATIONS, v.6, n.1, article ID fcad273, 11p, 2023
Projetos de Pesquisa
Unidades Organizacionais
Fascículo
Resumo
Mutations in CLCN2 are a rare cause of autosomal recessive leucoencephalopathy with ataxia and specific imaging abnormalities. Very few cases have been reported to date. Here, we describe the clinical and imaging phenotype of 12 additional CLCN2 patients and expand the known phenotypic spectrum of this disorder. Informed consent was obtained for all patients. Patients underwent either whole-exome sequencing or focused/panel-based sequencing to identify variants. Twelve patients with biallelic CLCN2 variants are described. This includes three novel likely pathogenic missense variants. All patients demonstrated typical MRI changes, including hyperintensity on T2-weighted images in the posterior limbs of the internal capsules, midbrain cerebral peduncles, middle cerebellar peduncles and cerebral white matter. Clinical features included a variable combination of ataxia, headache, spasticity, seizures and other symptoms with a broad range of age of onset. This report is now the largest case series of patients with CLCN2-related leucoencephalopathy and reinforces the finding that, although the imaging appearance is uniform, the phenotypic expression of this disorder is highly heterogeneous. Our findings expand the phenotypic spectrum of CLCN2-related leucoencephalopathy by adding prominent seizures, severe spastic paraplegia and developmental delay. Nobrega et al. describe 12 additional CLCN2 leucoencephalopathy patients expanding the phenotypic spectrum by adding prominent seizures, severe spastic paraplegia and developmental delay. All patients demonstrated typical MRI changes. They found three novel missense variants. This report is now the largest case series of patients with CLCN2-related leucoencephalopathy. Graphical abstract
Palavras-chave
ClC-2 chloride channels, leucoencephalopathies, MRI, ataxia
URI
https://observatorio.fm.usp.br/handle/OPI/57962
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Coleções
Artigos e Materiais de Revistas Científicas - FM/MNE
Artigos e Materiais de Revistas Científicas - HC/ICHC
Artigos e Materiais de Revistas Científicas - HC/InRad
Artigos e Materiais de Revistas Científicas - LIM/15
Artigos e Materiais de Revistas Científicas - LIM/43
Artigos e Materiais de Revistas Científicas - LIM/44
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