Article
Pediatric Gaucher disease with intermediate type 2-3 phenotype associated with parkinsonian features and levodopa responsiveness.
Parkinsonism & related disorders - 1 Oct 2021
Darling Alejandra, Irún Pilar, Giraldo Pilar, Armstrong Judith, Gort Laura, Díaz-Conradi Álvaro, Yubero Delia, De Oryazábal Sanz Alfonso Luis, Ormazábal Aída, Artuch Rafael, García-Cazorla Àngels, O'Callaghan Mar
Abstract excerpt
INTRODUCTION: Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by a deficiency of acid β-glucosidase encoded by the GBA gene. In patients with GD, childhood onset parkinsonian features have been rarely described. METHODS: Twin siblings with GD are described, including clinical follow-up and treatment response. Bone marrow, enzyme activity studies and genotyping were performed....
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