Article
Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview.
Molecular genetics and metabolism - 1 Feb 2020
Caciotti Anna, Melani Federico, Tonin Rodolfo, Cellai Lucrezia, Catarzi Serena, Procopio Elena, Chilleri Chiara, Mavridou Irene, Michelakakis Helen, Fioravanti Antonella, d'Azzo Alessandra, Guerrini Renzo, Morrone Amelia
Abstract excerpt
Lysosomal storage diseases (LSDs) are rare to extremely rare monogenic disorders. Their incidence, however, has probably been underestimated owing to their complex clinical manifestations. Sialidosis is a prototypical LSD inherited as an autosomal recessive trait and caused by mutations in the NEU1 gene that result in a deficiency of alpha-N-acetyl neuraminidase 1 (NEU1). Two basic forms of this disease, type I...
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