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Papers of the Week

2022 Sep 12

Neurol Sci

Aseptic meningitis in Fabry disease due to a novel GLA variant: an expanded phenotype?


Nóbrega P R, Morais J L A, Ferreira A M, de Medeiros A D, Duarte B A, Rangel D M, Lima F O, de Paiva A R B, Paim-Marques L, Kok F, Pessoa A L S, Braga-Neto P, Carvalho F M M
Neurol Sci. 2022 Sep 12.
PMID: 36094773.


F abry disease (FD) is an X-linked lysosomal storage disorder with accumulation of globotriosylceramide, causing neurologic involvement mainly as acroparesthesias and cerebrovascular disease. Aseptic meningitis has been reported in 11 patients with FD, but no prior study has correlated alpha-galactosidase (GLA) specific variants with meningitis. We present in this manuscript a family in which a novel GLA pathogenic variant was associated with aseptic meningitis in 2 of 5 family members.