Article
Vasculitic peripheral neuropathy in deficiency of adenosine deaminase 2.
Neuromuscular disorders : NMD - 1 Sept 2021
Carneiro Diogo Reis, Rebelo Olinda, Matos Anabela, Baldeiras Inês, Almendra Luciano, Fernandes Carolina, Negrão Luís, Almeida Maria Rosário, Matias Fernando, Brás José, Guerreiro Rita, Santo Gustavo C
Abstract excerpt
Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive inflammatory vasculopathy characterized by systemic vasculitis, early-onset stroke and livedo racemosa. We report a family cohort of 3 patients with ADA2 compound heterozygous mutation p.[Thr360Ala] and [Gly383Ser]. Two of them had progressive involvement of the peripheral nervous system in the fourth decade, both after stroke. In one patient,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.