Clinical, neuroimaging and genetic findings in Brazilian patients with neurodegeneration with brain iron accumulation

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.

Source: Parkinsonism and Related Disorders - March 22, 2024 Category: Neurology Authors: Rubens Paulo Ara újo Salomão, Flávio Moura de Rezende Filho, Vanderci Borges, Manju A. Kurian, Henrique Balallai Ferraz, Guido J. Breedveld, Vincenzo Bonifati, Orlando G. Barsottini, José Luiz Pedroso Source Type: research