Neuronopathic Gaucher disease: Rare in the West, common in the East

  • Published on 06/07/2024
  •  Reading time: 8 min.

Ozlem Goker‐Alpan , Margarita M. Ivanova

Lysosomal and Rare Disorder Research and Treatment Center Fairfax Virginia USA


Gaucher disease (GD) stands as one of the most prevalent lysosomal disorders, yet neuronopathic GD (nGD) is an uncommon subset characterized by a wide array of clinical manifestations that complicate diagnosis, particularly when neurological symptoms are understated. nGD may manifest as the acute neuronopathic type, or GD type 2 (GD2), either prenatally or within the first weeks to months of life, whereas GD type 3 (GD3) symptoms may emerge at any point during childhood or occasionally...


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