Clinical, neuroimaging and genetic findings in Brazilian patients with neurodegeneration with brain iron accumulation.
Parkinsonism Relat Disord
; 123: 106103, 2024 Jun.
Article
em En
| MEDLINE
| ID: mdl-38582019
ABSTRACT
Neurodegeneration with brain iron accumulation (NBIA) encompasses a clinically and genetically heterogeneous group of rare disorders. Here, we report clinical, neuroimaging and genetic studies in twenty three Brazilian NBIA patients. In thirteen subjects, deleterious variants were detected in known NBIA-causing genes (PANK2, PLA2G6, C9ORF12, WDR45 and FA2H), including previously unreported variants in PANK2 and PLA2G6. Two patients carried rare, likely pathogenic variants in genes not previously associated with NBIA KMT2A c.11785A > C (p.Ile3929Leu), and TIMM8A c.127T > C (p.Cys43Arg), suggesting an expansion of their associated phenotypes to include NBIA. In eight patients the etiology remains unsolved, suggesting variants undetectable by the adopted methods, or the existence of additional NBIA-causing genes.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Neuroimagem
Limite:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
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Male
País/Região como assunto:
America do sul
/
Brasil
Idioma:
En
Revista:
Parkinsonism Relat Disord
Assunto da revista:
NEUROLOGIA
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Brasil